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
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 cholesterol level RxrgRxrg HOM Early adult 9.28×10-14
increased circulating triglyceride level RxrgRxrg HOM Early adult 3.25×10-07
increased circulating HDL cholesterol level RxrgRxrg HOM Early adult 4.63×10-14
abnormal bone mineralization RxrgRxrg HOM Early adult 1.04×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Rippling Muscle Disease 1
Muscle mounding, Percussion-induced rapid rolling muscle contractions OMIM:600332
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... OMIM:160800
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia... ORPHA:684
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Osteoporosis, Gout OMIM:610947
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon OMIM:255700
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia OMIM:168300
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... OMIM:616516
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia 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
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Rippling Muscle Disease 2
Muscle mounding, Percussion-induced rapid rolling muscle contractions OMIM:606072
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Myotonia, Potassium-Aggravated
Percussion myotonia, Myotonia, Handgrip myotonia OMIM:608390
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Myotonia Fluctuans
Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ... ORPHA:99734
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypophosphatemic Bone Disease
Rickets, Hypophosphatemia, Osteomalacia OMIM:146350
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Steatorrhea, Rickets OMIM:607748
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Hypercholesterolemia ORPHA:254531
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia ORPHA:77296
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Temple Syndrome
Hypertriglyceridemia, Flexion contracture, Joint hypermobility, Hypercholesterolemia OMIM:616222
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:618620
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Laron Syndrome
Osteoarthritis, Hypercholesterolemia ORPHA:633
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Joint hypermobility, Hypoalbuminemia OMIM:619013
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Renal Tubular Acidosis Iii
Rickets, Hypokalemia, Osteomalacia OMIM:267200
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Decreased HDL cholesterol co... ORPHA:412
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Osteomalacia, Hypocalcemia, Elevated circulating creatinine con... OMIM:179800
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline OMIM:603471
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Bone cyst, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Tangier Disease
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... OMIM:205400
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Osteoporosis, Joint contracture OMIM:615381
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi... OMIM:600785
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... OMIM:615947
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... ORPHA:98855
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Xp21 Deletion Syndrome
Reduced bone mineral density, Osteoporosis, Elevated circulating creatine kinase concentration, H... ORPHA:261476
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Hypercholesterolemia ORPHA:96184
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Werner Syndrome
Elevated hemoglobin A1c, Reduced bone mineral density, Osteoporosis, Hypertriglyceridemia OMIM:277700
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia ORPHA:89937
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... ORPHA:98863
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... ORPHA:261
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalan... OMIM:248370
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemia, Pathologic fracture, Increased circulating beta-C... ORPHA:157215
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Myotonia, Handgrip myotonia, Percussion-induced rapid rolling muscle contractions ORPHA:324442
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Arthritis, Xanthelasma,... OMIM:210250
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Rickets, Hypophosphatemia, Osteopenia ORPHA:2088
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Hypophosphatemia, Osteomalacia, Coarse metaphyseal trabecularization, Bone cyst, Recu... ORPHA:93160
Hypokalemic Periodic Paralysis
Myotonia ORPHA:681
Fanconi Renotubular Syndrome 2
Rickets, Hypophosphatemia, Osteomalacia, Osteopenia, Recurrent fractures OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemia, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... OMIM:300554
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypocalcemia,... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia OMIM:602722
Macrophage Activation Syndrome
Juvenile rheumatoid arthritis, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158061
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Osteoporosis, Osteopenia ORPHA:369
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Joint stiffness ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Myotonia Permanens
Myotonia ORPHA:99735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration OMIM:615605
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Megalocornea-Intellectual Disability Syndrome
Joint hyperflexibility, Hypercholesterolemia, Osteopenia ORPHA:2479
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemic rickets, ... OMIM:241530
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... ORPHA:79240
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Osteopenia OMIM:249310
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Osteopenia, Conjugated hyperbilirubinemia OMIM:211600
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... ORPHA:264580
Fanconi Renotubular Syndrome 1
Rickets, Hypophosphatemia, Hypokalemia, Osteomalacia OMIM:134600
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Osteopenia, Elevated circulating creatine kinase concentration, Hypertriglyceridemi... OMIM:613327
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Osteoarthritis, Hypophosph... OMIM:307800
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Myotonic Dystrophy 1
Myotonia OMIM:160900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Delayed epiphyseal ossification, Sparse bone tr... OMIM:264700
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Alstrom Syndrome
Hypertriglyceridemia, Hyperostosis frontalis interna, Decreased HDL cholesterol concentration, Hy... OMIM:203800
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Pathologic fracture, ... ORPHA:470
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia OMIM:611590
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypophosphatemia, Hypocalcemic seizures, Osteomalacia, Delayed epiphyseal ossification, ... ORPHA:289157
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Unicameral bone cyst ORPHA:79086
Infantile Systemic Hyalinosis
Camptodactyly of finger, Joint stiffness, Steatorrhea, Osteoporosis, Osteomalacia, Osteopenia, In... ORPHA:2176
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Dent Disease 1
Rickets, Hypophosphatemia, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae,... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Delayed epiphyseal ossification, Sparse bone tr... OMIM:277440
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Flexion contracture, Arthritis OMIM:617591
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Myotonic Dystrophy 2
Myotonia, Handgrip myotonia OMIM:602668
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Richieri Costa-Da Silva Syndrome
Myotonia of the upper limb, Handgrip myotonia ORPHA:3101
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Gout, Hyperproteinemia, Hypertriglyceridemia, H... ORPHA:90041
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia ORPHA:589821
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Gout, Osteoporosis, Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma,... ORPHA:79259
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid... ORPHA:79303
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Hypophosphatemia, Fibrous dysplasi... ORPHA:249
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Reduced bone mineral density ORPHA:1414
Microtriplication 11Q24.1
Hyperlipidemia, Limitation of joint mobility ORPHA:289522
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... ORPHA:90674
Hyperkalemic Periodic Paralysis
Myotonia ORPHA:682
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
H Syndrome
Hypertriglyceridemia, Camptodactyly, Osteolysis, Recurrent fractures ORPHA:168569
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Acroosteolysis of distal phalanges (feet), Decreased HDL cholesterol concen... ORPHA:280365
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Glycerol Kinase Deficiency
Hypertriglyceridemia, Osteoporosis, Pathologic fracture, Hyperglycerolemia OMIM:307030
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Hypophosphatemia OMIM:616026
Lowe Oculocerebrorenal Syndrome
Rickets, Camptodactyly of finger, Pathologic fracture, Bicarbonaturia, Elevated circulating creat... OMIM:309000
Cystinosis
Rickets, Hypophosphatemia, Hypokalemia ORPHA:213
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Hypertriglyceridemia, Joint hypermobility, Hypercalcemia ORPHA:369837
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myotonic runs ORPHA:353
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Renal hypophosphatemia, Increased bone mineral dens... ORPHA:289176
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Joint stiffness, Osteoporosis, Osteopenia, Osteomalacia, Joint hyperflexibility ORPHA:1901
Fanconi-Bickel Syndrome
Rickets, Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Osteomalacia, Increased ... OMIM:227810
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Chronic Visceral Acid Sphingomyelinase Deficiency
Increased LDL cholesterol concentration, Abnormal circulating lipid concentration, Pathologic fra... ORPHA:77293
Mccune-Albright Syndrome
Fibrous dysplasia of the bones, Hypophosphatemia, Increased circulating cortisol level, Primary h... ORPHA:562
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Schwartz-Jampel Syndrome, Type 1
Percussion myotonia OMIM:255800
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis OMIM:560000
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Joint hypermobility, Osteopenia ORPHA:536532
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Dent Disease
Rickets, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration... ORPHA:1652
Immunodeficiency 47
Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Steatorrhea, Osteoporosis, Osteomalacia ORPHA:309031
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia, Joint hemorrhage ORPHA:35909
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Joint stiffness, Enthesitis, Hyperostosis... ORPHA:437
X-Linked Hypophosphatemia
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Hypophosphat... ORPHA:89936
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Joint stiffness, Hypokalemia, Osteoma... ORPHA:534
Celiac Disease, Susceptibility To, 1
Rickets, Steatorrhea, Osteoporosis, Hypocalcemia OMIM:212750
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Osteopenia, Osteolytic defects of the phalanges of the hand, Hypertriglyceridemi... OMIM:619127
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges... ORPHA:90153
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Joint hypermobility OMIM:619418
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia ORPHA:167
Idiopathic Camptocormia
Myotonia ORPHA:1320
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges... ORPHA:90154
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Progressive clavicular acroosteolysis, Osteolytic defe... OMIM:608612
Stuve-Wiedemann Syndrome 1
Myotonia OMIM:601559
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Increased circulating cortisol level, Osteoporosis, Hyperlipidemia, Paradoxic... ORPHA:189427
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... ORPHA:79474
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Osteomalac... ORPHA:3337
Neu-Laxova Syndrome
Rickets, Arthrogryposis multiplex congenita, Osteoporosis, Osteopenia, Osteomalacia, Flexion cont... ORPHA:2671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Hypertriglyceridemia, Cystic angiomatosis of bone OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cystic angiomatosis of bone OMIM:608594
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Wilson Disease
Hypouricemia, Osteoporosis, Increased circulating copper concentration, Osteoarthritis, Osteomala... OMIM:277900
Glycogen Storage Disease Ia
Hyperuricemia, Gout, Osteoporosis, Hyperlipidemia, Xanthelasma OMIM:232200
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture of toe, Flexion contracture of finger, Hypertriglyce... OMIM:256040
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Hypokalemia, Osteomalacia, Increased susceptibility to fra... ORPHA:18
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Schwartz-Jampel Syndrome
Myotonia ORPHA:800
Aromatase Deficiency
Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Osteopenia ORPHA:91
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Osteomalacia, Hypercalcemia ORPHA:405
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Osteoporosis, Hyperlipidemia, Paradoxical increased cortiso... ORPHA:189439
Glycogen Storage Disease Ib
Hyperuricemia, Gout, Osteoporosis, Hyperlipidemia, Xanthelasma OMIM:232220
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Reduced bone mineral density, Osteopenia, Unconjugated hyperbilirubinemia, Joint laxity,... OMIM:613658
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs ORPHA:206549
Thyrotoxic Periodic Paralysis
Myotonia ORPHA:79102
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Elevated circu... ORPHA:157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration... ORPHA:228308
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
X-Linked Lymphoproliferative Disease
Hypertriglyceridemia, Increased circulating ferritin concentration ORPHA:2442
Occipital Horn Syndrome
Rickets, Osteolysis, Osteoporosis, Synostosis of joints, Osteopenia, Osteomalacia, Joint hyperfle... ORPHA:198
Cystinosis, Nephropathic
Rickets, Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, De... OMIM:219800
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Flexion contracture OMIM:264090
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Osteopenia, Hypertriglyceridemia, Joint hypermobility, Synovitis ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Osteopenia, Hyperbilirubinemia, Elevated circulating creatinine co... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Glycogen Storage Disease Ic
Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomalacia, Elevated circulating C-reactive protein concentration, Osteomyelitis, Hy... OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteoporosis, Osteopenia, Osteomalacia, Abnormally ossified vertebrae ORPHA:2636
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Woodhouse-Sakati Syndrome
Hyperlipidemia, Osteopenia ORPHA:3464
Generalized Arterial Calcification Of Infancy
Fused cervical vertebrae, Osteomalacia, Abnormal calcification of the carpal bones, Hypophosphate... ORPHA:51608
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Alström Syndrome
Hypertriglyceridemia, Hyperlipidemia, Hyperostosis frontalis interna 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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