Gene Summary

Name:
retinoid X receptor gamma
Synonyms:
Nr2b3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level RxrgRxrg HOM Early adult 9.28×10-14
increased circulating HDL cholesterol level RxrgRxrg HOM Early adult 4.63×10-14
decreased grip strength RxrgRxrg HOM Early adult 2.22×10-06
decreased thermal nociceptive threshold RxrgRxrg HOM   Early adult 4.22×10-05
increased circulating triglyceride level RxrgRxrg HOM Early adult 3.25×10-07
abnormal bone mineralization RxrgRxrg HOM Early adult 1.04×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 Rxrg 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 Rxrg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thomsen And Becker Disease
Myotonia ORPHA:614
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... ORPHA:684
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia OMIM:610947
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Paramyotonia Congenita
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia OMIM:168300
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Myotonia, Potassium-Aggravated
Handgrip myotonia, Myotonia, Percussion myotonia OMIM:608390
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Myotonia Fluctuans
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... ORPHA:99734
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypercholanemia, Familial 1
Steatorrhea, Rickets, Increased serum bile acid concentration OMIM:607748
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Joint hypermobility ORPHA:254531
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Temple Syndrome
Joint hypermobility, Flexion contracture, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Myotonia OMIM:255710
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Joint hypermobility, Hypertriglyceridemia OMIM:619013
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Hypertriglyceridemia OMIM:618010
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Hypercholestero... ORPHA:412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Joint contracture, Hypertriglyceridemia OMIM:615381
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Contractures of the large joints, Acroosteolysis of ... ORPHA:2457
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Bone cyst, Hypertriglyceridemia ORPHA:528
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... ORPHA:98855
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia OMIM:604367
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Rickets OMIM:607765
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Joint hypermobility ORPHA:96184
Xp21 Deletion Syndrome
Joint hypermobility, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Os... ORPHA:261476
Werner Syndrome
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia OMIM:277700
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia ORPHA:209335
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... ORPHA:98863
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... ORPHA:261
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Hyperlipidemia ORPHA:369
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Myotonia, Percussion-induced rapid rolling muscle contractions ORPHA:324442
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Fanconi-Bickel Syndrome
Osteopenia, Hypophosphatemia, Rickets, Hypertriglyceridemia ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Elbow flexion contracture, Joint stiffness, Hyperlipidemia, Acroosteolysis of distal ... OMIM:248370
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
Myotonia Permanens
Myotonia ORPHA:99735
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Smith-Magenis Syndrome
Joint stiffness, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated cir... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Myotonia of the upper limb ORPHA:3101
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia, Joint hypermobility ORPHA:2479
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... OMIM:241530
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Osteoporosi... OMIM:613327
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia, Knee flexion contracture OMIM:620454
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Myotonic Dystrophy 1
Myotonia OMIM:160900
Lysinuric Protein Intolerance
Osteopenia, Increased circulating ferritin concentration, Decreased HDL cholesterol concentration... ORPHA:470
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Hypertriglyceridemia ORPHA:79083
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:264700
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Acquired Generalized Lipodystrophy
Unicameral bone cyst, Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
Proteasome-Associated Autoinflammatory Syndrome 3
Flexion contracture, Arthritis, Hypertriglyceridemia OMIM:617591
Cholestasis-Lymphedema Syndrome
Reduced bone mineral density, Hyperlipidemia ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrhea, Conjugated hype... ORPHA:79303
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor... OMIM:277440
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Microtriplication 11Q24.1
Limitation of joint mobility, Hyperlipidemia ORPHA:289522
Gaisböck Syndrome
Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circ... ORPHA:90041
Myotonic Dystrophy 2
Handgrip myotonia, Myotonia OMIM:602668
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthritis, Abnormal circu... OMIM:307800
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Familial Chylomicronemia Syndrome
Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia ORPHA:444490
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Xanthelasma, Hyperlipidemia, Increased susceptibility to fractures, Hyperuricemia, Go... ORPHA:79259
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... OMIM:176270
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia ORPHA:589821
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia, Rickets OMIM:616026
Fibrous Dysplasia Of Bone
Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Pathologic fr... ORPHA:249
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypocalcemia, Increased susceptibility to... ORPHA:289157
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Increased serum bile acid concentration,... OMIM:227810
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
H Syndrome
Camptodactyly, Osteolysis, Recurrent fractures, Hypertriglyceridemia ORPHA:168569
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Hyperkalemic Periodic Paralysis
Myotonia ORPHA:682
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the phalanges of the hand, Decre... ORPHA:280365
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myotonic runs ORPHA:353
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Cystinosis
Hypokalemia, Hypophosphatemia, Rickets ORPHA:213
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Joint hypermobility, Hypertriglyceridemia, Craniosynostosis, Hypercalcemia ORPHA:369837
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Osteomalacia, ... OMIM:309000
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Glycerol Kinase Deficiency
Pathologic fracture, Hyperglycerolemia, Osteoporosis, Hypertriglyceridemia OMIM:307030
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Abnormal circulating lipid concentration, Pathologic fracture, Increased LDL choleste... ORPHA:77293
Mccune-Albright Syndrome
Aneurysmal bone cyst, Increased circulating cortisol level, Osteomalacia, Monostotic fibrous dysp... ORPHA:562
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Osteopenia, Hypertriglyceridemia ORPHA:536532
Schwartz-Jampel Syndrome, Type 1
Percussion myotonia OMIM:255800
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabe... ORPHA:1652
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Joint hypermobility OMIM:300972
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration, Elevated hemoglobin... OMIM:203800
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Mandibuloacral Dysplasia With Type A Lipodystrophy
Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolyt... ORPHA:90153
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia OMIM:620275
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Celiac Disease, Susceptibility To, 1
Steatorrhea, Osteoporosis, Rickets, Hypocalcemia OMIM:212750
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hyperaldosteronism, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia... ORPHA:534
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Arthritis, E... ORPHA:89936
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Calcinosis, Osteolytic defects of the ... ORPHA:90154
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Joint stiffness, Osteolytic defects of the phalanges of the hand, Hypertriglyceridemi... OMIM:619127
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phala... OMIM:608612
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Joint hypermobility, Hypertriglyceridemia OMIM:619418
19P13.12 Microdeletion Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Hyperlipidemia ORPHA:254346
Glycogen Storage Disease Ia
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Osteoporosis OMIM:232200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Increased susceptibilit... ORPHA:189427
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Idiopathic Camptocormia
Myotonia ORPHA:1320
Stuve-Wiedemann Syndrome 1
Myotonia OMIM:601559
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Cystic angiomatosis of bone, Hypertriglyceridemia OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Hypertriglyceridemia OMIM:608594
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... ORPHA:3337
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:91
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Elbow flexion contracture, Hypertriglyceridemia, Flexion contracture of ... OMIM:256040
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Glycogen Storage Disease Ib
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Osteoporosis OMIM:232220
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Reduced bone mineral d... ORPHA:18
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Schwartz-Jampel Syndrome
Myotonia ORPHA:800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Joint hypermobility, Thin bony cortex, Unconj... OMIM:613658
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets ORPHA:411629
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Wilson Disease
Hypouricemia, Hypoalbuminemia, Osteomalacia, Hyperbilirubinemia, Increased circulating copper con... OMIM:277900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs ORPHA:206549
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Bardet-Biedl Syndrome
Joint hypermobility, Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:110
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Hypophosphatemic rickets,... OMIM:219800
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Joint hypermobility, Synovitis, Hypertriglyceridemia ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypertriglyceridemia OMIM:264090
Glycogen Storage Disease Ic
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia OMIM:232240
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein ... OMIM:619381
Fabry Disease
Reduced bone mineral density, Hyperlipidemia, Arthritis, Abnormal circulating lipid concentration ORPHA:324
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Woodhouse-Sakati Syndrome
Osteopenia, Hyperlipidemia ORPHA:3464
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Alström Syndrome
Hyperostosis frontalis interna, Hyperlipidemia, Hypertriglyceridemia ORPHA:64

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 Rxrg

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 Rxrg.

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

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