Gene: Fabp3 MGI:95476

Gene Summary

Name:

fatty acid binding protein 3, muscle and heart

Synonyms:

Fabph1, Mdgi, Fabph-4, Fabph4, H-FABP, Fabph-1, Fabp3

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal lens morphology		Fabp3^{tm1a(EUCOMM)Wtsi}	HET		Early adult	6.93×10^-05
cataract		Fabp3^{tm1a(EUCOMM)Wtsi}	HET		Early adult	8.42×10^-05

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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 Fabp3 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.

Human diseases associated with Fabp3 (0 diseases)
Human diseases predicted to be associated with Fabp3 (1058 diseases)

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

The table below shows human diseases predicted to be associated to Fabp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cataract 20, Multiple Types	Membranous cataract, Cataract	OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 18	Cataract	OMIM:610019
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 39, Multiple Types	Developmental cataract	OMIM:615188
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Aniridia 3	Cataract	OMIM:617142
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 12, Multiple Types	Developmental cataract, Progressive cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:616511
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus, Diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Corneal Dystrophy, Groenouw Type I	Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy	OMIM:121900
Corneal Degeneration, Band-Shaped Spheroid	Corneal degeneration	OMIM:217520
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy	OMIM:615523
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride...	OMIM:232700
Pupillary Membrane, Persistence Of	Megalocornea, Developmental cataract, Persistent pupillary membrane	OMIM:178900
Cataract 7	Developmental cataract	OMIM:115660
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole...	OMIM:610947
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis	OMIM:246650
Galactosemia Iv	Cataract	OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Lipodystrophy, Familial Partial, Type 1	Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss...	OMIM:608600
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Nathalie Syndrome	Cataract	ORPHA:2663
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly...	OMIM:612526
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:610021
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Fatigue, Hypoglycemia, Fasting hyperinsu...	ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ...	ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Mandibuloacral Dysplasia	Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc...	ORPHA:2457
Cataract-Microcornea Syndrome	Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy	ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h...	ORPHA:79299
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Cataract 47	Cataract, Microcornea	OMIM:612018
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Cardiomyopathy, Sudden death	OMIM:609016
Cataract 42	Developmental cataract	OMIM:115900
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal...	OMIM:604367
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con...	OMIM:615703
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Hypertriglyceridemia 1	Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:144600
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Galactosemia Ii	Cataract	OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Cataract 1, Multiple Types	Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta...	OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Zonular cataract	OMIM:600881
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ...	OMIM:610717
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis...	OMIM:614480
X-Linked Retinoschisis	Cataract	ORPHA:792
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:436182
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Akt2-Related Familial Partial Lipodystrophy	Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, ...	ORPHA:79085
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 15, Multiple Types	Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract	OMIM:615274
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Developmental cataract, Corneal dystrophy	OMIM:271320
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent...	OMIM:136120
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane...	ORPHA:435660
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Schnyder Corneal Dystrophy	Crystalline corneal dystrophy, Corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy...	OMIM:306000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Band keratopathy, Corneal dystrophy	OMIM:300779
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures	ORPHA:293964
Cidec-Related Familial Partial Lipodystrophy	Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hypertri...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia, Lipodystrop...	OMIM:615238
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Cataract 3, Multiple Types	Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract	OMIM:601547
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Persistent pupillary membrane	OMIM:225200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia...	ORPHA:71212
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you...	ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop...	OMIM:604765
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Cataract 9, Multiple Types	Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract	OMIM:604219
Macrophagic Myofasciitis	Myalgia, Fatigue, Arthralgia	ORPHA:592
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum...	OMIM:617319
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri...	OMIM:613027
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance	OMIM:617885
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Nathalie Syndrome	Cataract	OMIM:255990
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m...	OMIM:151660
Hyperferritinemia With Or Without Cataract	Pulverulent cataract, Nuclear cataract	OMIM:600886
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Megalocornea	Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir...	OMIM:309300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami...	OMIM:615381
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia	OMIM:240900
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Cholesteryl Ester Storage Disease	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi...	ORPHA:75234
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Niemann-Pick Disease, Type B	Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co...	OMIM:607616
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper...	OMIM:605814
Temple Syndrome	Maturity-onset diabetes of the young, Hypertriglyceridemia, Flexion contracture, Hypercholesterol...	OMIM:616222
Aniridia 2	Iris coloboma, Lens subluxation, Cataract, Aniridia	OMIM:617141
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Ketotic hypoglycemia, Decrea...	ORPHA:79159
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Pontiac Fever	Myalgia, Fatigue	ORPHA:99748
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Elevated transfe...	OMIM:606069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pain, Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Increase...	ORPHA:26793
Mantle Cell Lymphoma	Fatigue, Splenomegaly	ORPHA:52416
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts	Cataract	OMIM:225740
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Cataract 16, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:613763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cellulitis, Hypertriglyceridemia, Lipodyst...	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci...	ORPHA:79083
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycardia,...	ORPHA:276556
Cataract 11, Multiple Types	Cataract	OMIM:610623
Congenital Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Increased C-peptide level, Cirrhosis, Hypertriglyceridemia, Lipod...	ORPHA:528
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J...	OMIM:603552
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Cataract 30, Multiple Types	Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract	OMIM:116300
Cataract 5, Multiple Types	Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract	OMIM:116800
Loeffler Endocarditis	Chest pain, Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of ...	ORPHA:75566
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis	OMIM:251750
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Sudden cardiac death, Arrhythmia, Fatigue, Hypoglycemia, Transient hyperlipidemia, ...	ORPHA:156
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abdominal pain	ORPHA:314811
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Left ventricular hypertrophy, Hypoglycemia, Bradycardia, Decreased plasma free carn...	OMIM:619048
Cataract 21, Multiple Types	Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea	OMIM:610202
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Decreased plasma carnitin...	OMIM:212140
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitat...	ORPHA:276575
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Arrhythmia, Hypoglycemia, Cardiomyopathy	ORPHA:35
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E...	OMIM:603471
Glycogen Storage Disease Iii	Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, V...	OMIM:232400
Exfoliation Syndrome	Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos...	OMIM:177650
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Fatigue, ...	ORPHA:276608
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Cataract 17, Multiple Types	Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea	OMIM:611544
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Anterior Segment Dysgenesis 7	Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea	OMIM:269400
Glycerol Kinase Deficiency	Hypoglycemia, Hypertriglyceridemia	OMIM:307030
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitat...	ORPHA:276580
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Edict Syndrome	Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract	OMIM:614303
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Exercise intolerance, Left ventricular hypertrophy, Elevated circulating creatine k...	OMIM:617713
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ...	ORPHA:79086
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H...	OMIM:300635
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Timothy Syndrome	Hypocalcemia, Tetralogy of Fallot, Sudden death, Ventricular septal defect, Hypoglycemia, Patent ...	OMIM:601005
Cataract 31, Multiple Types	Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract	OMIM:605387
Coats Disease	Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Fatigue, Splenomegaly	ORPHA:75563
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr...	OMIM:618620
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic gl...	ORPHA:2088
Anterior Segment Dysgenesis 1	Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula...	OMIM:107250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Leg, Absence Deformity Of, With Congenital Cataract	Developmental cataract, Progressive cataract	OMIM:246000
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Peters Anomaly	Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi...	ORPHA:708
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Weill-Marchesani Syndrome 4	Phakodonesis, Iridodonesis, Ectopia lentis	OMIM:613195
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ...	OMIM:618838
Tremor, Hereditary Essential, 2	Fatigue	OMIM:602134
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly, Panniculitis	OMIM:618398
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Pellagra-Like Syndrome	Cataract	OMIM:260650
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci...	ORPHA:369
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Retinitis Pigmentosa 23	Posterior subcapsular cataract	OMIM:300424
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Palpitations, Fatigue, Syncope, Heart murmur, Abnormal car...	ORPHA:422
Tuberculosis	Fatigue	ORPHA:3389
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Steatorrhea, Hepatic ...	OMIM:278000
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Fatigue, Hypotension, Hypoglycemic seizures, Hyponatremia, ...	ORPHA:199296
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:600649
Cataract 33, Multiple Types	Cortical cataract, Lamellar cataract, Nuclear cataract	OMIM:611391
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Fatigue, Syncope, Pulm...	OMIM:265400
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus	ORPHA:181393
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe...	OMIM:615558
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome	Cataract	OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane	ORPHA:1067
Glucocorticoid Resistance, Generalized	Hypoglycemia, Hypertension, Fatigue	OMIM:615962
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:255120
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ...	OMIM:136800
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Hepatomegaly	ORPHA:67046
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr...	ORPHA:280365
Isolated Aniridia	Peters anomaly, Cataract, Aniridia	ORPHA:250923
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Fatigue,...	OMIM:616000
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Cataract 24	Anterior polar cataract	OMIM:601202
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic...	OMIM:619013
Atrial Standstill	Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompac...	ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Hyperalaninemia	OMIM:614702
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue	OMIM:619477
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Fatigue, Abdominal pain, Congestive heart failure	OMIM:616794
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Myalgia, Hepatomegaly, Episodic abdominal pain,...	ORPHA:228305
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hyperammonemia, Exercise-induced myalgia, Elevated circulating creatine kinase conc...	ORPHA:42
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid...	OMIM:615160
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ...	OMIM:214900
Autoimmune Hemolytic Anemia, Cold Type	Fatigue, Splenomegaly	ORPHA:228312
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Kahrizi Syndrome	Iris coloboma, Cataract	OMIM:612713
Nephrotic Syndrome, Type 14	Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit...	ORPHA:1414
Stickler Syndrome Type 2	Corneal opacity, Cataract	ORPHA:90654
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Fatigue	OMIM:616323
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating selenium concentration	ORPHA:171706
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration...	OMIM:207750
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig...	ORPHA:209902
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr...	ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia	OMIM:616113
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Fatigue, Chest pain, Bone pain	ORPHA:98293
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Elevated circulating creatine kinase...	ORPHA:79240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	ORPHA:158057
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:66628
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal...	ORPHA:263455
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Myalgia, Exercise intolerance, Lower limb pain, Increased serum pyruvate, Fatigue, Chest pain, Di...	ORPHA:1349
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato...	ORPHA:370
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Hypothyroidism, Congenital, Nongoitrous, 7	Fatigue	OMIM:618573
Seckel Syndrome 10	Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Elevated circulating aspartate aminotra...	OMIM:617253
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased circulati...	ORPHA:444490
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy	ORPHA:26792
Sengers Syndrome	Hypertrophic cardiomyopathy, Fatigue, Exercise intolerance	OMIM:212350
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Chronic fatigue, Hepatomegaly, Splenomegaly, Hypocholesterolemia, Bone pain	OMIM:610539
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia	OMIM:610582
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	OMIM:608594
Cholangiocarcinoma	Fatigue, Abdominal pain	ORPHA:70567
Peripartum Cardiomyopathy	Myocarditis, Heart murmur, Chest pain, Reduced left ventricular ejection fraction, Hypertension, ...	ORPHA:563
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hyperammonemia, Exercise intolerance, Elevated circulating creatine kinase concentration, Hypogly...	OMIM:618120
Congenital Varicella Syndrome	Cataract	ORPHA:291
Cataract 2, Multiple Types	Developmental cataract, Nuclear cataract, Microcornea	OMIM:604307
Takayasu Arteritis	Myalgia, Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Fatigue, Vasculitis, Cere...	ORPHA:3287
Intellectual Developmental Disorder And Retinitis Pigmentosa	Cataract	OMIM:618195
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ...	ORPHA:247585
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:179494
Isolated Right Ventricular Hypoplasia	Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep...	ORPHA:439
Atrial Septal Defect, Sinus Venosus Type	Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Exercise intol...	ORPHA:99105
Adiposis Dolorosa	Chronic pain, Fatigue, Arthralgia	OMIM:103200
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Dysbetalipoproteinemia	Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A...	ORPHA:412
Exudative Vitreoretinopathy 6	Cataract	OMIM:616468
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated circulating creatine ...	OMIM:613327
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated he...	OMIM:617591
Intellectual Disability-Cataracts-Kyphosis Syndrome	Iris coloboma, Cataract	ORPHA:171860
Amoebic Keratitis	Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo...	ORPHA:67043
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Choles...	ORPHA:264580
Primary Lipodystrophy	Hyperlipidemia, Lipoatrophy, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Li...	ORPHA:90970
Mucolipidosis Type Iii	Abnormal heart valve morphology, Abnormal aortic valve morphology, Fatigue	ORPHA:577
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Increased serum pyruvate, Hepatomegaly	OMIM:614741
X-Linked Endothelial Corneal Dystrophy	Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology	ORPHA:293621
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:246900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL...	ORPHA:98855
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:86893
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, Eleva...	ORPHA:2394
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia, Hyperalaninemi...	OMIM:619386
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Myalgia, Exercise intolerance, Left ventricular hypertrophy, Elevated circulating creatine kinase...	OMIM:615418
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Abnormal heart morphology	ORPHA:231147
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype...	ORPHA:35878
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ...	OMIM:269700
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Shashi-Pena Syndrome	Hypoglycemia, Atrial septal defect	OMIM:617190
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Anterior Segment Dysgenesis 2	Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o...	OMIM:610256
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci...	ORPHA:158061
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki...	OMIM:212138
Autosomal Dominant Keratitis	Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro...	ORPHA:2334
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy	ORPHA:67048
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Ebstein Malformation Of The Tricuspid Valve	Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car...	ORPHA:1880
Hepatitis, Fulminant Viral, Susceptibility To	Type I diabetes mellitus, Hepatomegaly, Fatigue	OMIM:618549
Epiphyseal Dysplasia, Multiple, 2	Knee pain, Fatigue, Foot pain	OMIM:600204
Lcat Deficiency	Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles...	ORPHA:650
Schnitzler Syndrome	Myalgia, Hepatomegaly, Splenomegaly, Fatigue, Vasculitis, Bone pain, Arthralgia	ORPHA:37748
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent...	OMIM:615947
Liddle Syndrome	Hypokalemia, Arrhythmia, Fatigue, Cerebral ischemia, Hypertension	ORPHA:526
Cardiomyopathy, Familial Hypertrophic 27	Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M...	OMIM:618052
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Fatigue, Cardiomyopathy, Increased serum iron, Elev...	OMIM:604250
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract	OMIM:120433
X-Linked Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL...	ORPHA:98863
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL...	ORPHA:98853
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Fatigue	ORPHA:79283
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hyperlipoproteinemia, Type I	Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron...	OMIM:238600
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Epigastric pain, Abdominal pain, Elevated alpha-fetoprotein, Fatigue	ORPHA:33402
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Corneal Endothelial Dystrophy	Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des...	OMIM:217700
Congenital Gerbode Defect	Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur...	ORPHA:99095
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration	OMIM:300438
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Fatigue	OMIM:616326
Pyruvate Carboxylase Deficiency	Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Hyperalaninemia	OMIM:266150
Pfapa Syndrome	Hepatomegaly, Abdominal pain, Splenomegaly, Fatigue, Arthralgia	ORPHA:42642
Werner Syndrome	Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig...	OMIM:277700
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Morm Syndrome	Cataract	ORPHA:75858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hyperammonemia, Exercise-induced myalgia, Sudden cardiac death, Elevated circulatin...	OMIM:201475
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp...	ORPHA:567548
Hyperlipidemia, Familial Combined, 3	Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co...	OMIM:144250
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles...	OMIM:267700
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Arthralgia, Hepatomegaly, Abdominal pain, Splenomeg...	ORPHA:465508
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Tachycardia, Fatigue, Increased total bilirubin, Congestive heart failure	ORPHA:90037
Riboflavin Deficiency	Hypoglycemia, Elevated circulating acylcarnitine concentration	OMIM:615026
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue	ORPHA:199276
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Myalgia, Hyperalaninemia, Exercise intolerance	OMIM:617950
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia	ORPHA:6
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu...	OMIM:608612
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Hepatomegaly	OMIM:617872
Congenital Cataracts, Hearing Loss, And Neurodegeneration	Cataract, Developmental cataract	OMIM:614482
Fixed Subaortic Stenosis	Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu...	ORPHA:3092
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Cirrhotic Cardiomyopathy	Hepatomegaly, Exercise intolerance, Asthenia, Elevated pulmonary artery pressure, Reduced left ve...	ORPHA:57777
Typhoid	Myalgia, Hepatomegaly, Abdominal pain, Splenomegaly, Epistaxis, Arrhythmia, Fatigue, Gastrointest...	ORPHA:99745
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor...	ORPHA:247598
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Undifferentiated Pleomorphic Sarcoma	Fatigue	ORPHA:2023
Babesiosis	Myalgia, Hepatomegaly, Splenomegaly, Fatigue, Myocardial infarction, Arthralgia, Congestive heart...	ORPHA:108
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:618241
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Retinitis Pigmentosa 37	Cataract	OMIM:611131
Alstrom Syndrome	Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration...	OMIM:203800
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist...	OMIM:262190
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Elevated circulating creatine kinase concentration, Fatigue	OMIM:253601
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension, Fatigue, Hyperglycemia, Increased circulating cortisol level	OMIM:615954
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Myalgia, Elevated circulating C-reactive protein co...	OMIM:616050
Congenital Corneal Opacities, Cornea Guttata, And Corectopia	Ectopia pupillae, Corneal opacity	OMIM:608484
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Methylmalonic acidemia, Impaired continence, Dicarboxylic acidemia	ORPHA:289504
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hype...	ORPHA:79237
Insulinoma	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Palpitations, Fatigue, Reactive hypoglycemia, No...	ORPHA:97279
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Abdominal pain	OMIM:248360
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, N...	ORPHA:79644
Mast Cell Sarcoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:66661
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease...	ORPHA:540
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Iris coloboma, Cataract	OMIM:212550
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Exercise intolerance, Exercise-induced myalgia, Tachycardia, Elevated circulating creatine kinase...	ORPHA:368
Methylmalonic Acidemia With Homocystinuria	Fatigue	ORPHA:26
Polymyositis	Abnormal mitral valve morphology, Myalgia, Hepatomegaly, Abdominal pain, Elevated circulating cre...	ORPHA:732
Myasthenic Syndrome, Congenital, 21, Presynaptic	Fatigue, Exercise intolerance	OMIM:617239
Follicular Lymphoma	Night sweats, Fatigue, Splenomegaly	ORPHA:545
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Splenomegaly, Fatigue, Myocardial infarction, Hypertension	OMIM:133100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma	ORPHA:1473
Infantile Liver Failure Syndrome 2	Hypoglycemia, Cardiomyopathy, Hyperammonemia	OMIM:616483
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Myopathy, Centronuclear, 4	Myalgia, Fatigue	OMIM:614807
Glycogen Storage Disease Ixd	Hypoglycemia, Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Exerc...	OMIM:300559
H Syndrome	Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Lipodystrophy, Hernia, Diabetes mellitus	ORPHA:168569
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Abdominal pain, ...	OMIM:235200
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Classical-Like Ehlers-Danlos Syndrome Type 1	Myalgia, Arrhythmia, Fatigue, Mitral valve prolapse, Gastrointestinal hemorrhage, Arthralgia	ORPHA:230839
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati...	OMIM:619418
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Attrv122I Amyloidosis	Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi...	ORPHA:85451
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ...	OMIM:248370
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Anterior Segment Dysgenesis 5	Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel...	OMIM:604229
Adult-Onset Still Disease	Myalgia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Spl...	ORPHA:829
Familial Atrial Myxoma	Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Chest pa...	ORPHA:615
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen	OMIM:619313
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Neonatal...	OMIM:261740
Rheumatic Fever	Abnormal mitral valve morphology, Abdominal pain, Endocarditis, Abnormal aortic valve morphology,...	ORPHA:3099
Danon Disease	Myocardial fibrosis, Wolff-Parkinson-White syndrome, Exercise intolerance, Myocardial necrosis, E...	OMIM:300257
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly, Fatigue, Abdominal pain	ORPHA:234
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp...	ORPHA:2298
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Fatigue, Increased circulating renin level, Increa...	OMIM:241150
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hypertr...	ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato...	OMIM:603553
Achromatopsia 3	Cataract	OMIM:262300
Laryngeal Neuroendocrine Tumor	Chronic fatigue, Elevated carcinoembryonic antigen level	ORPHA:100083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Myalgia, Exercise intolerance, Arrhythmia, Fatigue, Diabetes mellitus, Cardiomyopathy, Bradycardia	OMIM:609286
Osteopetrosis, Autosomal Dominant 3	Asthenia, Hepatomegaly, Fatigue, Splenomegaly	OMIM:618107
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Decreased circu...	OMIM:618839
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, De...	OMIM:618835
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr...	OMIM:231100
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia, Cardiomyopathy, H...	OMIM:619046
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc...	ORPHA:79096
Solitary Fibrous Tumor/Hemangiopericytoma	Night sweats, Hypophosphatemic rickets, Hypoinsulinemia, Fatigue, Hypoglycemia, Low back pain, Re...	ORPHA:2126
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia, Hypoalbuminemia	OMIM:617156
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p...	ORPHA:860
Autosomal Dominant Optic Atrophy Plus Syndrome	Fatigue, Cardiomyopathy, Diabetes mellitus	ORPHA:1215
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Exercise intolerance, Sudden cardiac death, Tachycardia, Elevated circulating creat...	OMIM:614921
Mitochondrial Myopathy With Lactic Acidosis	Hyperalaninemia, Increased serum pyruvate, Fatigue	OMIM:251950
Familial Cold Autoinflammatory Syndrome 1	Myalgia, Elevated circulating C-reactive protein concentration, Fatigue, Chills, Arthralgia	OMIM:120100
Autoimmune Hemolytic Anemia	Abdominal pain, Splenomegaly, Arrhythmia, Fatigue, Congestive heart failure	ORPHA:98375
Cardiomyopathy, Familial Hypertrophic, 4	Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br...	OMIM:115197
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Increased serum pyruvate, Hyperglutaminemia, Elevated circulating c...	OMIM:619355
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Myalgia, Hyperlipidemia, Hepatomegaly, Episodic...	ORPHA:157
Oculocerebral Hypopigmentation Syndrome Of Preus	Cataract	OMIM:257790
Cold Agglutinin Disease	Hepatomegaly, Back pain, Splenomegaly, Fatigue, Arthralgia	ORPHA:56425
Methanol Poisoning	Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus	ORPHA:31825
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a...	OMIM:606721
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Lens subluxation, Cataract	ORPHA:171844
Atrial Septal Defect, Ostium Primum Type	Exercise intolerance, Systolic heart murmur, Right bundle branch block, Atrioventricular block, P...	ORPHA:99106
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Myalgia, Cerebellar hemorrhage, Hyperammonemia,...	ORPHA:99901
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Hepatomegaly	OMIM:618958
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Fatigue, Syncope, Hypog...	ORPHA:230
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine...	ORPHA:159
Alpha-Thalassemia-Myelodysplastic Syndrome	Fatigue, Splenomegaly	ORPHA:231401
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ...	OMIM:608836
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Posi...	ORPHA:94080
Leishmaniasis	Night sweats, Hepatomegaly, Splenomegaly, Fatigue, Hypoalbuminemia, Arthralgia	ORPHA:507
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia	OMIM:261680
Coronary Arterial Fistula	Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ...	ORPHA:2041
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:5
Lmna-Related Cardiocutaneous Progeria Syndrome

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