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Gene: Acads MGI:87868

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
acyl-Coenzyme A dehydrogenase, short chain
Synonyms:
Hdlq8,  SCAD,  Bcd1,  Bcd-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Acads mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Acads by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... ORPHA:26792
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Myopathy, Ethylmalonic aciduria, Weakness of facial musculature OMIM:201470

The table below shows human diseases predicted to be associated to Acads by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... OMIM:232700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Anorexia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis OMIM:261650
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Myopathy, Hypertriglyceridemia ORPHA:366
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... ORPHA:26792
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67046
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction OMIM:606528
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Myopathy, Elevated circulating creatine kinase concentration, Fatty replacement... OMIM:255100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... OMIM:619048
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hepatic s... OMIM:615703
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... OMIM:608709
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fo... OMIM:618400
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Organic aciduria, Hypoglycemia ORPHA:35
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia, Lower limb muscle weakness, Elevated circulating aspartate aminotransfera... OMIM:617950
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... OMIM:605911
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Postprandial hyperglyc... ORPHA:2088
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... OMIM:222100
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia ORPHA:6
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Distal lowe... ORPHA:171706
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Rena... OMIM:261680
Glycogen Storage Disease Iii
Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232400
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abno... OMIM:615980
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... ORPHA:228305
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... OMIM:612526
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra... ORPHA:42
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... OMIM:620357
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... ORPHA:209919
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hypoglycemia, Di... ORPHA:289504
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Calf muscle hypertrophy, Hypertriglyceride... ORPHA:280356
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Recurrent hypoglycemia, Ele... OMIM:212140
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia, Hypoglycemia, Nephrolithiasis ORPHA:163693
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... OMIM:261750
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... OMIM:201475
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co... OMIM:619355
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine, Camptodactyly of toe, Camptodactyly of finger ORPHA:1325
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Elevated circulating hepatic tr... ORPHA:26791
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Ragged-red muscle fibers, Hypocalcemia, Nephrolithiasis, Polyphagia, Cystin... OMIM:606407
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Hydroxykynureninuria
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia,... OMIM:210200
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con... ORPHA:369840
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Myopathy, Cirrhosis, Hyperactivity, Hype... ORPHA:363400
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, 3-Methylglutaconic acidu... OMIM:618120
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Cystinosis
Aminoaciduria, Nephropathy, Type I diabetes mellitus, Polydipsia, Renal insufficiency, Portal hyp... ORPHA:213
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Hsd10 Mitochondrial Disease
Hypoglycemia, Aggressive behavior, Elevated circulating tiglylglycine concentration, Restlessness... OMIM:300438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating hepatic transami... ORPHA:264580
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxylic aciduria, Hep... OMIM:212138
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Methylmalonic aciduria, Hypoglycemia, Elevated circulating aspartate ami... OMIM:245400
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, 3-Methylglutaconic aciduria ORPHA:67048
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Intrahepatic cholestasis, Hypouricemia, Ke... OMIM:227810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... OMIM:266150
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... OMIM:620454
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Myopathy, Splenomegal... ORPHA:79083
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Limb muscle weakness, Aggressive behavior, Facial palsy, Dysphagia, Generalized... OMIM:614707
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo... OMIM:210210
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Mehmo Syndrome
Micropenis, Aggressive behavior, Hypoglycemia OMIM:300148
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperprolinemia, Hyperalaninemia, Lacticaciduria ORPHA:79246
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscl... ORPHA:199343
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Dicarboxylic ... ORPHA:228308
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Myopathy, Splenomegaly, Glomerulopathy, Pancreatitis, Hype... ORPHA:2348
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Generalized aminoaciduria, Chronic kidney disease, Hypouricemia, Decreas... ORPHA:3337
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Hypospadias, Hypoglycemia OMIM:201910
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa... ORPHA:53693
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature... OMIM:618811
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertr... ORPHA:528
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level OMIM:229100
Mody
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Pancreatic hypoplasia, Insulin-resistan... ORPHA:552
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Hypoketotic h... ORPHA:157
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly, Myopathy ORPHA:33574
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu... OMIM:230400
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Hypoglycemia OMIM:618958
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinemia, Hypera... OMIM:606054
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase c... ORPHA:94086
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Limb hypertonia, Hepatic steatosis OMIM:615918
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Muscular dystrophy OMIM:204730
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Calf muscle hypertrophy, Hy... ORPHA:435651
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficien... OMIM:604387
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c... OMIM:615595
Glutaric Acidemia Type 3
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Abnormal circulat... ORPHA:35706
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... ORPHA:436271
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Hepatomegaly, Lacticaciduria, Campt... OMIM:604273
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Dysphagia, Limb hypertonia, Lacticaciduria OMIM:618247
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... OMIM:600649
Dysbetalipoproteinemia
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholest... ORPHA:412
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Oliguria, Elevated circulating... ORPHA:159
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E... OMIM:615381
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... OMIM:262190
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Elevated circulating hepatic transamin... OMIM:229600
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin... ORPHA:416
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Oral aversion, Hyperuricemia, Anorexia, H... ORPHA:134
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ... OMIM:619013
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Hand muscle weakness, G... ORPHA:98908
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Urinary bladder sphincter dysfun... ORPHA:52430
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... ORPHA:348
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Hawkinsinuria
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Restlessness, 4-hydroxyphenylac... OMIM:140350
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Ketonuria, Inflexible adherence to routines OMIM:608049
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Abnormality of end... ORPHA:93111
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Elevated circula... ORPHA:66634
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Microphallus, Decreased muscle mass ORPHA:631
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy... OMIM:611126
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia, Abnormality of the lower urinary tract, Dysphagia, Abnormal concent... ORPHA:391428
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... OMIM:617093
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia OMIM:248360
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Nephropathy, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Hypophosphatemia, Pol... OMIM:239200
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Elevated circulating aspartate aminotransferase concentration, 3-Methy... OMIM:610198
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Diastasis recti, Hypoglycemia ORPHA:231140
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac... OMIM:615238
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f... OMIM:615453
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Cirr... ORPHA:470
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... ORPHA:79085
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia, Hyperprolinemia, Lacticaciduria OMIM:619003
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Hepat... OMIM:276700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Hepatic steatosis OMIM:615996
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia, Tongue thrusting, Micropenis, Elevated circulating D-glyceric concen... OMIM:220120
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Juvenile Nephropathic Cystinosis
Aminoaciduria, Chronic kidney disease, Renal phosphate wasting, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia OMIM:614736
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperalaninemia, Hyperammonemia, 3-Methylglutaconic aciduria OMIM:614739
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Hypoglycemia, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammon... OMIM:251000
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating S-adenosyl-L-h... OMIM:614300
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Argininemia
Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, Hyperargini... OMIM:207800
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating propionylcarnitine concentr... OMIM:251110
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Seckel Syndrome 10
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... OMIM:617253
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia ORPHA:633
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Penile freckling, Hepatic steatosis ORPHA:210548
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating h... OMIM:619487
Smith-Magenis Syndrome
Abnormality of the urinary system, Head-banging, Onychotillomania, Self-mutilation, Abnormal rena... OMIM:182290
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Abnormal renal collecting system morphology, Skel... ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Lacticaciduria OMIM:619063
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased intramusc... OMIM:151660
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... OMIM:620300
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... ORPHA:97279
Central Diabetes Insipidus
Hyponatremia, Nocturia, Polydipsia, Anorexia ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 9
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hepatomegaly, E... OMIM:614582
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Foot dorsiflexor ... ORPHA:298
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hep... OMIM:231670
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... OMIM:220110
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Hypoglycemia, Anorexia, Hyperglycemia, Rec... ORPHA:3008
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Hepatic steatosis, Decreased liver function ORPHA:70472
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Finger joint contracture, Hypoglycemia, Flexion contracture of toe ORPHA:48431
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Aggressive behavior, Limb hypertonia, Severe temper tantru... OMIM:617710
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami... OMIM:615486
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... ORPHA:320
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Dicarboxylic aciduria, Attention deficit hyperactivity disorder, Ketotic hypoglyc... OMIM:620646
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonatal hypoglycemia, ... OMIM:619046
Tyrosinemia, Type Iii
Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro... OMIM:276710
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232220
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia, Methion... OMIM:236200
Leigh Syndrome
Generalized aminoaciduria, Hepatic failure, Skeletal muscle atrophy, Methylmalonic aciduria, Hypo... ORPHA:506
Ddost-Cdg
Nephrotic range proteinuria, Elevated circulating hepatic transaminase concentration, Hepatic ste... ORPHA:300536
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp... OMIM:617049
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n... ORPHA:199296
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Dysphagia, Hyperammonemia, Hypoglycemia OMIM:618253
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Dysphagia, Limb hypertonia, Joint contracture ORPHA:35708
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypercalciuria, P... OMIM:613677
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent... ORPHA:79096
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level OMIM:201400
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Myopathy... OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:608594
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Re... ORPHA:20
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Polydipsia, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hy... OMIM:612780
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Attention... ORPHA:79239
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Gluco... ORPHA:189427
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Hepatocellular ne... OMIM:256810
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Hepatomegal... OMIM:219800
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Adrenomyodystrophy
Myopathy, Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hypospadias, Hyperlipidemia, Hepatic steatosis, Hyperactivity, Arthrogry... ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H... ORPHA:445038
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas... OMIM:232240
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Temple Syndrome
Polyphagia, Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ... ORPHA:98907
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of th... ORPHA:2126
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ... ORPHA:263501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Stage 5 chronic kidney diseas... ORPHA:79259
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Polydipsia, Hydroureter, Functional abnormality of the bladder, Renal insuffic... ORPHA:223
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Long penis, Skeletal muscle atrophy, Cholestasis, H... OMIM:246200
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Nephritis, Insulin resistance, Biliary cirrhosis, Hypotriglyceridemia... ORPHA:2298
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Glucocortocoid-insensitive... ORPHA:251274
Familial Glucocorticoid Deficiency
Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Decreased circulating cortisol ... ORPHA:361
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Immunodeficiency 10
Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Myopathy, Hepatomegaly, Nephrotic... OMIM:612783
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... ORPHA:18
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He... ORPHA:79322
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Aggressive behavior, Pica, Organic aciduria, Abnormal circulating acylcarnitine concentration OMIM:620191
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Attention deficit hyperactivity di... ORPHA:73272
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Hepatic steatosis... OMIM:243910
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... ORPHA:411629
Methylmalonyl-Coa Epimerase Deficiency
Hyperhomocystinemia, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine... OMIM:251120
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia OMIM:608688
Acute Adrenal Insufficiency
Hypoglycemia, Renal insufficiency, Hyperuricemia, Hyponatremia, Salt craving, Decreased urinary p... ORPHA:95409
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Increased urinary glycerol OMIM:229700
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Fasting hypoglycemia, Urethral valve, Hypospadias, Con... OMIM:180860
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia ORPHA:23
Bachmann-Bupp Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperbilirubinemia, Hypoglycemia OMIM:619075
Shigellosis
Acute kidney injury, Hepatic failure, Hypoglycemia, Urethritis, Cholestasis, Rhabdomyolysis, Hypo... ORPHA:810
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... ORPHA:47159
Pearson Syndrome
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnormality of ... ORPHA:699
Nephronophthisis 11
Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5... OMIM:613550
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased HDL cholesterol concentration, Hepatic steatosis, Myopathy, Splenom... ORPHA:280365
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Organic aciduria, Anorexia ORPHA:79242
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... OMIM:212065
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration,... OMIM:619055
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614702
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration... OMIM:602522
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Lower limb muscle weakness, Rhabdomyolysis, 3-Methylglutaconic aciduria, Elevated circ... OMIM:251900
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Dent Disease 1
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Gitelman Syndrome
Hypocalciuria, Polydipsia, Renal magnesium wasting, Enuresis, Hypomagnesemia, Rhabdomyolysis, Hyp... OMIM:263800
Temple Syndrome
Flexion contracture, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglycerid... OMIM:616222
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618839
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, Rhabdomyolysis, ... ORPHA:746
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Decreased liver function, Hypoglycemia, Elevated circulating aspartate a... OMIM:608779
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia ORPHA:95428
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Glucocor... ORPHA:231580
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Ragged-red muscle fibers, Hyperprolinemia, Hyperalaninemia, Lacticaciduria OMIM:620451
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Type 2 muscle fiber predominance, Organic aciduria, Skeletal muscle atrophy... OMIM:619743
Dent Disease
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosi... ORPHA:1652
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico... OMIM:619377
Alstrom Syndrome
Nephritis, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes me... OMIM:203800
Glucocorticoid Deficiency 3
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:609197
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Lacticaciduria OMIM:245450
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis, 3-Methylglutaconic aciduria OMIM:616271
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c... ORPHA:431361
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Attention deficit hyperactivity disorder, Hypospadias, Microphallus ORPHA:397590
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Houge-Janssens Syndrome 1
Facial hypotonia, Hypoglycemia, Congenital muscular torticollis OMIM:616355
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Hypoalbuminemia, Splenomegaly, Prote... OMIM:617303
Smith-Magenis Syndrome
Self-injurious behavior, Abnormality of the ureter, Renal hypoplasia/aplasia, Attention deficit h... ORPHA:819
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hepatitis, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circula... ORPHA:199299
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... OMIM:208920
Long-Olsen-Distelmaier Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620609
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, 3-hydroxydicarb... OMIM:252010
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Urinary incontinence, Tubulointerstitial nephritis, Re... ORPHA:358
Orthostatic Hypotension 1
Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Nocturia, Elevated... OMIM:223360
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... OMIM:618156
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Hypospadias, Hyperactivity, Diastasis recti ORPHA:457485
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:557000
Addison Disease
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Decreased urin... ORPHA:85138
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Polydipsia, Insulin... ORPHA:769
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Brain-Lung-Thyroid Syndrome
Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking behavior, Hyperact... ORPHA:209905
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Isolated Complex I Deficiency
Proximal tubulopathy, Hypoglycemia, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus, Ab... ORPHA:2609
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polydipsia, Polyuria, Megacystis OMIM:125800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Hypoglycemia, Contracture of the proximal interphalangeal joint of the ... ORPHA:457279
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polydipsia, Polyuria, Megacystis OMIM:304800
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Glycerol Kinase Deficiency
Muscular dystrophy, Hypoglycemia, Increased urinary glycerol, Chronic pancreatitis, Myopathy, Hyp... OMIM:307030
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation,... OMIM:620423
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Polydipsia, Nephrolithiasis, Polyuria, Achilles tendon calcification, Hypercal... OMIM:617994
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Left ventricular noncompaction, Left ventricular hypertrophy, Lacticaciduria, Hepatome... OMIM:619167
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... OMIM:616263
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Addictive alcohol use, Hypercholesterolemia, Left ventricular hypertrophy ORPHA:90065
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Decreased circulating cortisol level OMIM:600955
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Elevated circulating hepati... ORPHA:404454
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... ORPHA:469
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ... OMIM:207900
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hep... ORPHA:2959
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Hyperglycinemia, Hyperammonemia, Elevated urine 3-hydroxypropi... OMIM:251100
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Tenorio Syndrome
Macroglossia, Hypoinsulinemia, Enuresis, Hypoglycemia OMIM:616260
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating palmitoleylcarnitine concen... ORPHA:79282
Richards-Rundle Syndrome
Distal amyotrophy, Ketonuria ORPHA:1399
Smith-Kingsmore Syndrome
Diastasis recti, Hypoglycemia OMIM:616638
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Camptoda... OMIM:309000
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... OMIM:261515
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, Skeletal muscle atrophy, Alpha-aminoadipic aciduria, 3-Met... OMIM:620089
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Cholera
Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H... ORPHA:173
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Shashi-Pena Syndrome
Unilateral renal agenesis, Limb hypertonia, Hypoglycemia OMIM:617190
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Hypoglycemia, Elbow contracture OMIM:620275
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Dysphagia, Fasting hypoglycemia ORPHA:25
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Recurrent hypoglycemia OMIM:616817
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperglycemia, Hyperinsulinemia, ... OMIM:248370
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Fetal pyelectasis, Hepatic steatosis ORPHA:96168
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria ORPHA:30
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac... OMIM:614946
Bardet-Biedl Syndrome 17
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Mirage Syndrome
Hypoglycemia, Microphallus, Recurrent urinary tract infections, Hyponatremia, Hypoplastic spleen,... OMIM:617053
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fib... OMIM:614924
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Whipple Disease
Insulin resistance, Polydipsia, Splenomegaly, Myositis, Hyponatremia, Anorexia, Hepatomegaly ORPHA:3452
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Hyperaldosteronism, Nephrolithiasis ORPHA:369929
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma c... OMIM:620358
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Polydipsia, Nephrocalcinosi... OMIM:241200
Holocarboxylase Synthetase Deficiency
Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Org... OMIM:253270
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ... OMIM:203700
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Amish Lethal Microcephaly
Hepatomegaly, Limb hypertonia, Organic aciduria ORPHA:99742
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Skeletal muscle atr... ORPHA:508
Sotos Syndrome
Glucose intolerance, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormality o... OMIM:117550
Familial Cold Urticaria
Polydipsia ORPHA:47045
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, A... ORPHA:3463
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Renal s... ORPHA:90791
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypospadias, Hypocalcemia, Hypoglycemia OMIM:607143
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria OMIM:619053
Prader-Willi Syndrome
Self-injurious behavior, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Hype... OMIM:176270
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Splenomegaly, Polyphagia, Hy... ORPHA:525731
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Ragged-red muscle fibers, Multiple glomerular cysts, Abnormal renal tubule morph... ORPHA:255210
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia OMIM:301032
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia... ORPHA:116
Perlman Syndrome
Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Congenital diaphragmatic he... OMIM:267000
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertrigly... ORPHA:90041
Citrullinemia, Classic
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, Elev... OMIM:215700
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ... ORPHA:99826
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:613658
Wars2-Related Combined Oxidative Phosphorylation Defect
Aggressive behavior, Limb hypertonia, Neonatal hypoglycemia, Dysphagia, Generalized amyotrophy ORPHA:572798
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Hypercalcemia, Renal in... ORPHA:99880
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Decreased muscle mass, Horseshoe kidney, Oral aversion, Fasting hypoglycemia,... ORPHA:96182
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Skeletal muscle atrophy, Increased circulating ferritin concentrat... OMIM:222700
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Hypercalcemia, Renal in... ORPHA:143
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Silver-Russell Syndrome
Insulin resistance, Abnormality of the urinary system, Decreased muscle mass, Recurrent hypoglyce... ORPHA:813
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat... OMIM:118450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hypospadias, Elevated circulating hepatic transaminase concentration, Viole... OMIM:619475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Microvesicular hepatic steatosis, Left ve... OMIM:220111
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hepatomegal... OMIM:301066
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria OMIM:618250
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia OMIM:616113
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Self-injurious be... ORPHA:534
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglyc... ORPHA:90062
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Cirrhosis, Hepatomegaly, Duplicated collecting system, Hypospadias, Renal agen... OMIM:270400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia ORPHA:90790
Bardet-Biedl Syndrome
Chronic kidney disease, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transa... ORPHA:110
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Hyperkalemi... ORPHA:168558
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Nephrocalcinosis, Joint contracture OMIM:618005
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Abnormal circulating thyro... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Microvesicular hepatic steatosis OMIM:616672
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Hyperkalemi... ORPHA:289548
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyposthenuria, Hypoglycemia ORPHA:91355
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Type I diabetes mellitus, Elevated circulating hepatic transaminase concent... OMIM:619525
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Hyposthenuria ORPHA:95513
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, Hypoglycemia, Torticollis OMIM:620224
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Proteinuria, Pancreatitis, Hypercholeste... OMIM:619471
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis ORPHA:91
Simpson-Golabi-Behmel Syndrome
Macroglossia, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Camptodactyly of finger, Hy... ORPHA:373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Hepatic ... OMIM:615356
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Flexion contracture, Diabetes mellitus, Pancr... OMIM:609069
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Hypercholesterolemia ORPHA:2479
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Attention deficit hyperactivity disorder, Joint contracture of the 5th fing... OMIM:619934
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Gluc... OMIM:619127
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,... ORPHA:79324
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Maternal diabetes ORPHA:3157
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Hypoglycemia, Hypokalemia ORPHA:786
Atypical Werner Syndrome
Skeletal muscle atrophy, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemi... ORPHA:79474
Congenital Syphilis
Hypoglycemia, Hepatosplenomegaly, Pancreatitis, Prolonged neonatal jaundice, Nephrotic syndrome ORPHA:499009
Holoprosencephaly
Abnormality of the urinary system, Hypoglycemia, Abnormality of the spleen, Congenital diaphragma... ORPHA:2162
Neuhauser Syndrome
Dysphagia, Hypercholesterolemia OMIM:249310
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Hyperammonemia, Organic aciduria OMIM:253260
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Diastasis ... OMIM:130650
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Jaundice, Neonatal hypoglycemia, Dysphagia OMIM:617248
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia ORPHA:447788
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Hypoglycemia ORPHA:95496
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures ORPHA:565624
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Lower limb muscle weakness, Glucose intolerance, Re... OMIM:606721
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of the urethra, ... ORPHA:537
1P36 Deletion Syndrome
Self-injurious behavior, Hypospadias, Annular pancreas, Camptodactyly of finger, Abnormality of t... ORPHA:1606
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Hyperammonemia, Dysphagia, Renal tubular acidosis OMIM:616457
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia, Insulinoma, Pancreatic islet cell adenoma, Hy... OMIM:131100
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia OMIM:233600
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Hy... OMIM:311250
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Hyp... ORPHA:293987
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Insulin resistance, Cholelithiasis, Distal amyotrophy, Skeletal... ORPHA:273
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Hepatic steatosis, Splenomegaly, Limb hy... OMIM:615846
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia ORPHA:95613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Knee flexion contracture, Bila... OMIM:300868
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Elevated circulating aspartate aminotransferase conce... ORPHA:466677
Oculodentodigital Dysplasia
Neurogenic bladder, Hypoglycemia, Camptodactyly of finger ORPHA:2710
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Erdheim-Chester Disease
Polydipsia, Xanthelasma, Renal insufficiency, Hydronephrosis, Dysuria, Retroperitoneal fibrosis ORPHA:35687
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Hypoglycemia OMIM:616007
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Skeletal muscle atrophy, Myopathy ORPHA:109
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Deeah Syndrome
Exocrine pancreatic insufficiency, Self-mutilation, Hepatomegaly, Micropenis, Neonatal hypoglycem... OMIM:619004
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Dysphagia, Foot dorsiflexor ... OMIM:619503
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Cholestasis, Dark urine, Hyperbilirubinemia, Congenital hepatic f... OMIM:619534
Bloom Syndrome
Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic steatosis OMIM:210900
Biotinidase Deficiency
Hyperammonemia, Limb muscle weakness, Organic aciduria ORPHA:79241
Ogden Syndrome
Hyperbilirubinemia, Microvesicular hepatic steatosis, Motor stereotypy, Global glomerulosclerosis... OMIM:300855
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Renal ... ORPHA:391665
Menkes Disease
Prolonged neonatal jaundice, Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Macroglossia, Hypoglycemia OMIM:614501
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria, Increased erythrocyte protoporphyrin concentration OMIM:301310
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Kabuki Syndrome 2
Horseshoe kidney, Neonatal hypoglycemia OMIM:300867
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma,... ORPHA:363618
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Hypoglycemia ORPHA:137675
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Hepatic steatosis, Micropenis, Flexion contracture, Azotemia OMIM:619321
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Orotic Aciduria
Oroticaciduria, Hematuria, Orotic acid crystalluria OMIM:258900
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Alström Syndrome
Chronic kidney disease, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Hepatic ... ORPHA:64
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Enlarged kidney, Myopathy OMIM:261740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hyperkalemia, Hypernatriuria, Hyponatremia, Decreased circulating cortisol level, Uro... ORPHA:90794
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Camptodactyly of finger, Wide penis, Vesicoureteral reflux, H... ORPHA:3455
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Recurrent hypoglycemia ORPHA:293978
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco... OMIM:618278
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Macroglossia, Hypoglycemia ORPHA:226307
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hepatic steatosis, Splenomegaly, ... OMIM:188400
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria ORPHA:85276
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Renal agenesis ORPHA:1848
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Costello Syndrome
Hypoglycemia, Renal insufficiency, Achilles tendon contracture, Macroglossia, Rhabdomyosarcoma OMIM:218040
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Myopathy, Ethylmalonic aciduria, Weakness of facial musculature OMIM:201470
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Vesicovaginal fistula, Hypoglycemia, Horseshoe kidney, Decreased c... OMIM:201750
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Sotos Syndrome
Ankle flexion contracture, Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral ref... ORPHA:821
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Neonatal hypoglycemia, Facial hypotonia ORPHA:457359
Holoprosencephaly 1
Micropenis, Hypoglycemia OMIM:236100
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acads

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acads.

No publications found that use IMPC mice or data for Acads.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Acadstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acadstm39380(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acadsem1(IMPC)Hmgu Exon Deletion Mice
Acadstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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