banner
Genes Phenotypes Help, News, Blog

Gene: Bco2 MGI:2177469

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
beta-carotene oxygenase 2
Synonyms:
CMO2,  B-diox-II,  Bcmo2,  beta-diox-II,  Bcdo2

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 Bco2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bco2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries, ... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypertriglyceride... OMIM:612526
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute... OMIM:278000
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Hepatic steatosis,... OMIM:616829
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hepat... OMIM:615381
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome... OMIM:613313
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, H... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, Oligozoospermia,... OMIM:615703
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Oligomenorrhea, Hypertrigl... OMIM:613877
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Pr... OMIM:617872
Wolman Disease
Reduced lysosomal acid lipase activity, Adrenal calcification, Acute hepatic failure, Splenomegal... OMIM:620151
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... OMIM:619868
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertrigl... OMIM:615238
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card... OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic steatosis, Splenomega... ORPHA:79083
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Lipodystrophy, Pan... ORPHA:2348
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hypopituitarism, Microcytic anemia, Hepa... OMIM:619013
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Labial pseudohyper... OMIM:151660
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr... ORPHA:209902
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... ORPHA:528
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Left ventricula... OMIM:619048
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormality of the menstrual ... ORPHA:905
Acquired Partial Lipodystrophy
Lymphocytosis, Lipoatrophy, Hepatic steatosis ORPHA:79087
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Thyroid carcinoma, Hepatic steatosis, Multiple lipomas, Hurthle cell thyroid ad... ORPHA:210548
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, In... OMIM:602390
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tiss... ORPHA:363400
Hemochromatosis, Type 4
Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Impotence, Diabetes mellitus OMIM:606069
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metabolism OMIM:611721
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Decreased beta-galactosidase activity OMIM:230350
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:264580
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
3-Methylglutaconic Aciduria, Type V
Decreased testicular size, Elevated circulating aspartate aminotransferase concentration, Normoch... OMIM:610198
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy... OMIM:607616
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Primar... ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Adrenal insufficiency, Hepatic ste... OMIM:619386
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypercholesterolemia, Hype... OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Hypertriglyceridemia, Hepat... OMIM:603552
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ... OMIM:613490
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration... OMIM:608594
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phosphorylase kin... OMIM:261750
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Hepatic steatosis OMIM:615996
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hyperinsulinemia, Type II diabetes mellitus, Decreased fertility, Hepatic s... OMIM:269700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Lipodystrophy, Diabetes mellitus, Hepatic steatosis OMIM:615980
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase... OMIM:618805
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the neck, Increased fac... ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:614582
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Abnormal circulating enzyme concentration or activity, H... ORPHA:70472
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ... ORPHA:465508
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... ORPHA:42
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Wolman Disease
Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hep... ORPHA:75233
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope... ORPHA:59303
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... OMIM:261680
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatos... ORPHA:79086
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:601847
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, External genital hypop... ORPHA:79322
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate... OMIM:615486
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:615595
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Increased proportion of transitional B cells, Lymphadenopathy, Decrease... OMIM:615513
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated cir... OMIM:605814
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Decreased carnitine level in liver... OMIM:212140
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Reduced... OMIM:201450
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hypertrigl... OMIM:613101
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m... ORPHA:91
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular... OMIM:256810
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cirrhosis... ORPHA:298
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hype... ORPHA:247585
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l... OMIM:617093
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Hurler-Scheie Syndrome
Hepatomegaly, Hernia, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Redu... ORPHA:228305
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, H... ORPHA:158061
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Acanthocytosis, Hep... ORPHA:71
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi... OMIM:619375
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... OMIM:619183
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Splenomegaly, Hepatic ... OMIM:613327
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Hepatomegaly OMIM:231000
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Recurrent pancreatitis... ORPHA:444490
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascites, Hepatosplenom... OMIM:619487
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lipod... OMIM:617591
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
19P13.12 Microdeletion Syndrome
Precocious puberty, Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Crypto... ORPHA:254346
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Portal fibrosis, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:614300
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... OMIM:257200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto... ORPHA:457077
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly OMIM:201475
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, H... OMIM:212065
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Uterine leiomyosarcoma, Uterine leiomyoma OMIM:150800
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... ORPHA:294
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Increased circulating lactate dehydrogenase concentration, Pers... OMIM:613673
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Normochromic m... ORPHA:66634
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... OMIM:201100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Absent vas deferens, Abnormality of endo... ORPHA:93111
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi... ORPHA:98907
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormality of Krebs cycle metabolism ORPHA:31
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating aspartat... OMIM:617253
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Dysbetalipoproteinemia
Acute pancreatitis, Xanthelasma, Hepatic steatosis, Hypothyroidism, Hypercholesterolemia, Hypertr... ORPHA:412
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypothyroidism, Delayed p... OMIM:616263
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... ORPHA:1133
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Cho... OMIM:611881
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm... ORPHA:398124
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... OMIM:224120
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Flexion co... ORPHA:85212
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro... OMIM:611126
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg... ORPHA:1655
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans... ORPHA:445038
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Lipogranulomatosis OMIM:228000
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia,... OMIM:251110
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Panniculitis OMIM:618398
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:300842
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration ORPHA:52430
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:99901
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Increase... OMIM:619802
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Primary adre... OMIM:261515
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia,... OMIM:251100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Chronic neutropenia, Irregular ... ORPHA:79259
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Mucopolysaccharidosis, Type Iiia
Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Umbilical hernia, Inguinal hernia, ... OMIM:252900
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Ascites ORPHA:2414
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Elbow flexion contracture, Elevated circ... OMIM:608836
Wilson Disease
Hepatic failure, Portal fibrosis, Chondrocalcinosis, Acute hepatic failure, Elevated circulating ... OMIM:277900
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Pancreatitis, Hepatic steatosis, Reduced cystathionine beta-synthase activity in... OMIM:236200
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:247598
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... OMIM:301078
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, Inguinal her... OMIM:235255
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ... OMIM:619525
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Ascites, Reduced subcutaneous adipose ti... OMIM:606812
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... ORPHA:186
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... ORPHA:699
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:207750
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:618329
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Alstrom Syndrome
Irregular menstruation, Elevated circulating hepatic transaminase concentration, Insulin-resistan... OMIM:203800
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Abnorma... ORPHA:348
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eosinophilia,... ORPHA:39041
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa... OMIM:619573
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614924
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Hep... OMIM:617303
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, E... OMIM:617156
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activ... OMIM:277410
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... ORPHA:1454
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Reduced hepatic glucose-6-phosphate tran... OMIM:232220
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Splenomegaly, Hypercholesterolemia, Jaundic... OMIM:238600
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Oculoskeletodental Syndrome
Elbow flexion contracture, Splenomegaly, Cryptorchidism, Hypothyroidism, Hepatomegaly OMIM:618440
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Splenomegaly ORPHA:33577
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Type I diabetes mellitus, Pancreatic hypoplasia, Camptodactyly of fin... OMIM:602782
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Chronic hepatic failure, Left ventricular hypertrophy, Hypoparathyroidism, Diffuse h... ORPHA:746
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Anemia, Prolong... OMIM:619377
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Hyperlipidemia, Hepatic steatosis, Hepatic calcification, Cardiomegaly, Reduced ... ORPHA:228308
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ... OMIM:308230
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Hy... OMIM:619991
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Portal vein thrombosis, Right ven... OMIM:616028
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Parotitis, Cholestasis, Elevated circ... OMIM:620376
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosis OMIM:210200
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Garg-Mishra Progeroid Syndrome
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis OMIM:620601
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, A... ORPHA:14
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosi... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosi... OMIM:233710
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re... ORPHA:288
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Elevated circulating hepatic transaminase concentration, Decreased liver function,... OMIM:613658
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Anemia, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Bloom Syndrome
Azoospermia, Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Decreased fertility in... OMIM:210900
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de... ORPHA:169090
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosi... OMIM:233690
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Flexion contracture OMIM:616271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:17
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Monosomy 13Q34
Hepatic steatosis, Metrorrhagia ORPHA:96168
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity, Megaloblasti... OMIM:277400
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired... OMIM:618935
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Microvesicular hepati... OMIM:618278
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Micropenis, ... OMIM:619321
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Impaired growth-hormone resp... OMIM:301068
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab... ORPHA:309854
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon... OMIM:615512
Aicardi-Goutieres Syndrome 7
Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Anemia, Hypothyroidism, Generalized lym... OMIM:615846
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Lipid accumula... ORPHA:20
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Elevated circulating hepatic transaminase ... OMIM:615688
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Inguinal hernia, Eryth... OMIM:612541
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification... OMIM:607625
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... OMIM:613471
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Splenome... ORPHA:158048
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Anemia, Increased intramyocellular lipid droplets, Hepatomegaly, Increa... OMIM:220110
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Sitosterolemia 1
Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Xanth... OMIM:210250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:615356
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Cholestasis, Asc... ORPHA:731
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S... ORPHA:1572
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:276700
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:615947
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring, Reduc... OMIM:263700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Hyperlipidemia, Splenom... ORPHA:77293
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly, Menorrhagia OMIM:139090
Bardet-Biedl Syndrome
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:110
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran... OMIM:306400
Atypical Werner Syndrome
Chondrocalcinosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cirrhosis, Reduced he... OMIM:229600
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Cholestatic liver disease, Bifid scrotum, Hypocholesterolemia,... OMIM:270400
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Hyperlipidemia, Splenomegaly, Increased mu... ORPHA:565612
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Epididymitis, Irregular menstruat... OMIM:256040
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Hepatic steatosis, Ovarian cyst, Spleno... OMIM:188400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Hip contracture, Microvesicular hepatic steatosis, Knee flexion contra... OMIM:300868
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Inguinal hernia, Hypoplasi... ORPHA:84064
Lymphatic Malformation 6
Cellulitis, Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, Hydrocele testis OMIM:616843
1P36 Deletion Syndrome
Annular pancreas, Camptodactyly of finger, Abnormal female external genitalia morphology, Hypogon... ORPHA:1606
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly OMIM:249100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla... OMIM:153670
Alström Syndrome
Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra... ORPHA:64
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Left ventricu... OMIM:619127
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Hepatomegaly, Arthrogryposis multiplex congenita, Splenomegaly ORPHA:163746
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly OMIM:243910
Ogden Syndrome
Polycythemia, Umbilical hernia, Decreased testicular size, Cryptorchidism, Inguinal hernia, Micro... OMIM:300855
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly OMIM:231005
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:50918
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Fetal ascites, Arthrogryposis multiplex congenita, Decreased response to g... OMIM:619503
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Elevated circulating hepatic transaminase concentra... ORPHA:273
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Increased circulating prolactin concentration, Cam... ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis OMIM:619934
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Hepatomegaly, Splenomegaly OMIM:612132
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Bifid scrot... OMIM:619475
Johanson-Blizzard Syndrome
Elevated gamma-glutamyltransferase level, Clitoral hypertrophy, Cryptorchidism, Elevated circulat... OMIM:243800
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Camptodactyly, Testicular atrophy, Hypospadias ORPHA:3063
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Left ventricular hypertrophy, Hypospadias, Inc... OMIM:220111
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Diabetic ketoacidosis OMIM:601992
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hypercholesterolemia, Hepatic steatosis ORPHA:391665

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 Bco2

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 Bco2.

No publications found that use IMPC mice or data for Bco2.

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
Bco2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bco2em1(IMPC)Ccpcz Exon Deletion Mice
Bco2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter