Gene: Fabp3 MGI:95476

Gene Summary

Name:

fatty acid binding protein 3, muscle and heart

Synonyms:

H-FABP, Fabph-4, Fabph-1, Fabph4, Fabph1, Mdgi, 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
cataract		Fabp3^{tm1a(EUCOMM)Wtsi}	HET		Early adult	8.42×10^-05
abnormal lens morphology		Fabp3^{tm1a(EUCOMM)Wtsi}	HET		Early adult	6.93×10^-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 (1027 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	Cataract, Membranous cataract	OMIM:116100
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
Cataract 12, Multiple Types	Developmental cataract, Progressive cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Type 1 Diabetes Mellitus 15	Diabetes mellitus, Type I 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	Diabetes mellitus, Type I 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	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Megalocornea	Megalocornea	OMIM:249300
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
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Glycogen Storage Disease Vi	Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ...	OMIM:232700
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid...	OMIM:306000
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	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab...	OMIM:610947
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
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	Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu...	OMIM:608600
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Hepatic steatosis, Diabetes mellitus	OMIM:613877
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Nathalie Syndrome	Cataract	ORPHA:2663
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom...	OMIM:612526
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia	OMIM:610021
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I...	OMIM:606721
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Insulin resistance, Fatigue, Recurrent hypoglycemia, Abnormal C-pe...	ORPHA:263458
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of...	ORPHA:280356
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Cataract 41	Developmental cataract, Nuclear cataract	OMIM:116400
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus	ORPHA:71529
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr...	OMIM:615238
Cataract-Microcornea Syndrome	Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy	ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Mandibuloacral Dysplasia	Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli...	ORPHA:2457
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Aniridia 2	Cataract, Aniridia	OMIM:617141
Hyperinsulinism Due To Glucokinase Deficiency	Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fatigue, Recurrent hypoglycemia, Abnorma...	ORPHA:79299
Cataract 47	Cataract, Microcornea	OMIM:612018
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Cataract 42	Developmental cataract	OMIM:115900
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet...	OMIM:615703
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Sudden death, Cardiomyopathy, Hypoglycemia	OMIM:609016
Corneal Hypesthesia, Familial	Decreased corneal sensation, Recurrent corneal erosions	OMIM:122450
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:619175
Cataract 10, Multiple Types	Developmental cataract, Zonular cataract, Posterior Y-sutural cataract	OMIM:600881
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:144600
Cataract 1, Multiple Types	Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M...	OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Galactosemia Ii	Cataract	OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy	OMIM:121820
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ...	OMIM:604367
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
X-Linked Retinoschisis	Cataract	ORPHA:792
Cataract 43	Subcapsular cataract	OMIM:616279
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance	OMIM:125853
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:436182
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom...	OMIM:614480
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ...	ORPHA:293964
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resis...	ORPHA:79085
Cataract 15, Multiple Types	Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract	OMIM:615274
Cataract 8, Multiple Types	Developmental cataract, Nuclear cataract	OMIM:115665
Maturity-Onset Diabetes Of The Young, Type 10	Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis	OMIM:613370
Fish-Eye Disease	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent...	OMIM:136120
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Developmental cataract, Corneal dystrophy	OMIM:271320
Lipe-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipodystrophy, Increased adi...	ORPHA:435660
Cataract 22, Multiple Types	Developmental cataract, Nuclear cataract	OMIM:609741
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Schnyder Corneal Dystrophy	Crystalline corneal dystrophy, Corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu...	OMIM:616516
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal opacity, Corneal dystrophy	OMIM:300779
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Hyperlipoproteinemia, Type Ii, And Deafness	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:144300
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyc...	ORPHA:435651
Cataract 3, Multiple Types	Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract	OMIM:601547
Niemann-Pick Disease, Type B	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased LDL cholesterol concentration, Decrea...	OMIM:607616
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,...	ORPHA:71212
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Arthralgia, Arrhythmia, Glucose intolerance, Impair...	OMIM:606069
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe...	ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s...	ORPHA:363400
Cataract 9, Multiple Types	Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract	OMIM:604219
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Macrophagic Myofasciitis	Fatigue, Arthralgia, Myalgia	ORPHA:592
Cholesterol-Ester Transfer Protein Deficiency	Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot...	ORPHA:79506
Hyperferritinemia With Or Without Cataract	Pulverulent cataract, Nuclear cataract	OMIM:600886
Ethanolaminosis	Cardiomegaly	OMIM:227150
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ...	OMIM:151660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont...	OMIM:615381
Nathalie Syndrome	Cataract	OMIM:255990
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia	OMIM:240900
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Megalocornea	Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar...	OMIM:309300
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S...	ORPHA:75234
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Ketotic hypoglycemia, Pulmonic stenosis, Elevated circulating acylcar...	ORPHA:79159
Anterior Segment Dysgenesis 8	Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir...	OMIM:617319
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi...	OMIM:613027
Temple Syndrome	Hypercholesterolemia, Maturity-onset diabetes of the young, Flexion contracture, Hypertriglycerid...	OMIM:616222
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia...	OMIM:605814
Pontiac Fever	Fatigue, Myalgia	ORPHA:99748
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Cataract 16, Multiple Types	Developmental cataract, Posterior polar cataract	OMIM:613763
Mantle Cell Lymphoma	Fatigue, Splenomegaly	ORPHA:52416
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts	Cataract	OMIM:225740
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hepatomegaly, Hype...	ORPHA:2348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricu...	ORPHA:26793
Ectopia Lentis Et Pupillae	Cataract, Persistent pupillary membrane, Ectopia lentis	OMIM:225200
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose...	ORPHA:528
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Syn...	ORPHA:276556
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Jaundice, Splen...	OMIM:603552
Cataract 30, Multiple Types	Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract	OMIM:116300
Cataract 11, Multiple Types	Cataract	OMIM:610623
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,...	ORPHA:411593
Cataract 5, Multiple Types	Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract	OMIM:116800
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ...	ORPHA:79083
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abdominal pain	ORPHA:314811
Exfoliation Syndrome	Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali...	OMIM:177650
Carnitine Palmitoyl Transferase 1A Deficiency	Arrhythmia, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly, Sudden cardiac death, Fatigue, ...	ORPHA:156
Cataract 21, Multiple Types	Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract	OMIM:610202
Propionic Acidemia	Arrhythmia, Hypoglycemia, Hepatomegaly, Hyperammonemia, Cardiomyopathy	ORPHA:35
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin...	ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Decreased plasma free carnitine, Hypoglycemia, Hepatomegaly, Congestive ...	OMIM:619048
Carnitine Deficiency, Systemic Primary	Decreased plasma carnitine, Hyperammonemia, Endocardial fibroelastosis, Impaired gluconeogenesis,...	OMIM:212140
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia	OMIM:307030
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Cataract 17, Multiple Types	Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract	OMIM:611544
Alg8-Cdg	Cataract	ORPHA:79325
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276608
Edict Syndrome	Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism	OMIM:614303
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ...	ORPHA:276580
Citrullinemia, Type Ii, Adult-Onset	Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,...	OMIM:603471
Endocardial Fibroelastosis	Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy, Hypoglycemia	ORPHA:2022
Anterior Segment Dysgenesis 7	Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea	OMIM:269400
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concent...	OMIM:232400
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul...	ORPHA:79086
Cataract 31, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract	OMIM:605387
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple...	OMIM:300635
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Congenital Disorder Of Glycosylation, Type Ii	Cataract	OMIM:607906
Coats Disease	Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris	ORPHA:190
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Fatigue, Glucose intolerance, Splenomegaly	ORPHA:75563
Anterior Segment Dysgenesis 1	Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th...	OMIM:107250
Fanconi-Bickel Syndrome	Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, H...	ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Leg, Absence Deformity Of, With Congenital Cataract	Developmental cataract, Progressive cataract	OMIM:246000
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Timothy Syndrome	Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Paten...	OMIM:601005
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Lcat Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly	ORPHA:650
Peters Anomaly	Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract...	ORPHA:708
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom...	OMIM:618838
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Postexertional malaise, Hypoglycemia, Hepatomegaly, Hyperlipidemia, Hypertrophic cardiomyopathy	ORPHA:369
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co...	OMIM:617713
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester...	OMIM:618620
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis, Splenomegaly	OMIM:618398
Pellagra-Like Syndrome	Cataract	OMIM:260650
Retinitis Pigmentosa 23	Posterior subcapsular cataract	OMIM:300424
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Tremor, Hereditary Essential, 2	Fatigue	OMIM:602134
Tuberculosis	Fatigue	ORPHA:3389
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:278000
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypotension, Decreased circulating cortisol level, ...	ORPHA:199296
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Glucocorticoid Resistance, Generalized	Fatigue, Hypertension, Hypoglycemia	OMIM:615962
Corneal Dystrophy, Fuchs Endothelial, 1	Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy...	OMIM:136800
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Isolated Aniridia	Aniridia, Peters anomaly, Cataract	ORPHA:250923
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome	Cataract	OMIM:212540
Cataract 24	Anterior polar cataract	OMIM:601202
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Li...	ORPHA:280365
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus	ORPHA:181393
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Ventricular tachyca...	OMIM:600649
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine k...	OMIM:255120
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Analbuminemia	Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi...	OMIM:616000
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp...	OMIM:619013
Idiopathic/Heritable Pulmonary Arterial Hypertension	Palpitations, Fatigue, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitatio...	ORPHA:422
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Combined Oxidative Phosphorylation Deficiency 10	Arrhythmia, Hyperalaninemia, Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:614702
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Pulmonary Hypertension, Primary, Autosomal Recessive	Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp...	OMIM:265400
Cataract 40	Sutural cataract, Nuclear cataract	OMIM:302200
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Fatigue, Congestive heart failure, Abdominal pain	OMIM:616794
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperammonemia, Atrial septal defect, Elevated circulating sebacic acid concentration, Increased ...	OMIM:615160
Cholestasis-Lymphedema Syndrome	Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil...	OMIM:214900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Arrhythmia, Decreased plasma total carnitine, Hypoglycemia, Hepatomegaly, Cardiom...	ORPHA:42
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Insulin resistance	OMIM:617885
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystr...	OMIM:613327
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Atrial Standstill	Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal...	ORPHA:1344
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Autoimmune Hemolytic Anemia, Cold Type	Fatigue, Splenomegaly	ORPHA:228312
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Cataract, Band keratopathy	OMIM:604278
Cataract 6, Multiple Types	Developmental cataract, Posterior polar cataract	OMIM:116600
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Arrhythmia, Episodic abdominal pain, Decreased plasma total carnitine, H...	ORPHA:228305
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Hype...	ORPHA:2089
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Fatigue	OMIM:616323
Amoebic Keratitis	Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac...	ORPHA:67043
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia	OMIM:616113
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Cardiomyopathy	ORPHA:26792
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones...	ORPHA:209902
Congenital Varicella Syndrome	Cataract	ORPHA:291
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa...	OMIM:207750
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Hypoketotic hypoglycemia	OMIM:610768
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellu...	ORPHA:370
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp...	ORPHA:263455
Cholestasis-Lymphedema Syndrome	Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,...	ORPHA:1414
Cataract 2, Multiple Types	Developmental cataract, Microcornea, Nuclear cataract	OMIM:604307
Ataxia With Vitamin 3 Deficiency	Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:277460
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hypoglycemia, Splenomegaly	ORPHA:664
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Familial Chylomicronemia Syndrome	Hepatic steatosis, Acute pancreatitis, Increased circulating chylomicron concentration, Hypertrig...	ORPHA:444490
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Hodgkin Lymphoma	Chest pain, Bone pain, Hepatomegaly, Splenomegaly, Fatigue	ORPHA:98293
Intellectual Developmental Disorder And Retinitis Pigmentosa	Cataract	OMIM:618195
Hypothyroidism, Congenital, Nongoitrous, 7	Fatigue	OMIM:618573
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:66628
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce...	ORPHA:247585
Exudative Vitreoretinopathy 6	Cataract	OMIM:616468
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellu...	ORPHA:264580
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio...	ORPHA:98855
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue...	OMIM:608594
X-Linked Endothelial Corneal Dystrophy	Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology	ORPHA:293621
Cholangiocarcinoma	Fatigue, Abdominal pain	ORPHA:70567
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Takayasu Arteritis	Arthralgia, Abnormal endocardium morphology, Abnormal heart valve morphology, Fatigue, Abnormal a...	ORPHA:3287
Oculoauricular Syndrome	Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea	OMIM:612109
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency	Decreased plasma carnitine, Elevated plasma branched chain amino acids, Abnormal cardiac ventricu...	ORPHA:2394
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Lipodystrophy, Panniculitis, Flexion contracture, Hepatomegaly, Hy...	OMIM:617591
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypog...	OMIM:618120
Shashi-Pena Syndrome	Atrial septal defect, Hypoglycemia	OMIM:617190
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Adiposis Dolorosa	Fatigue, Arthralgia, Chronic pain	OMIM:103200
Dysbetalipoproteinemia	Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig...	ORPHA:412
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:179494
Seckel Syndrome 10	Glucose intolerance, Insulin resistance, Elevated hemoglobin A1c, Impaired glucose tolerance, Ele...	OMIM:617253
Combined Oxidative Phosphorylation Deficiency 52	Hyperglycinemia, Hyperamylasemia, Hypoglycemia, Hyperalaninemia, Elevated circulating creatine ki...	OMIM:619386
Peripartum Cardiomyopathy	Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology...	ORPHA:563
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Autosomal Dominant Keratitis	Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris...	ORPHA:2334
Anterior Segment Dysgenesis 2	Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor...	OMIM:610256
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:86893
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Abnormal heart morphology	ORPHA:231147
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy...	ORPHA:35878
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract	OMIM:615418
Mucolipidosis Type Iii	Abnormal heart valve morphology, Fatigue, Abnormal aortic valve morphology	ORPHA:577
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hypoglycemia	ORPHA:67048
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Myofibrillar Myopathy 10	Postexertional malaise, Increased QRS voltage, Left ventricular hypertrophy, Elevated circulating...	OMIM:619040
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue...	OMIM:269700
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Intellectual Disability-Cataracts-Kyphosis Syndrome	Cataract, Iris coloboma	ORPHA:171860
Primary Lipodystrophy	Cirrhosis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Splenomegaly, Type ...	ORPHA:90970
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ...	OMIM:608612
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Lower limb pain, Fatigue, Increased serum pyruvate, Hypertension, Congestive heart failure, Dilat...	ORPHA:1349
X-Linked Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio...	ORPHA:98863
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio...	ORPHA:98853
Schnitzler Syndrome	Arthralgia, Bone pain, Hepatomegaly, Splenomegaly, Vasculitis, Fatigue, Myalgia	ORPHA:37748
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation	Cataract	OMIM:120433
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Fatigue	ORPHA:79283
Liddle Syndrome	Arrhythmia, Hypertension, Hypokalemia, Cerebral ischemia, Fatigue	ORPHA:526
Sengers Syndrome	Fatigue, Hypertrophic cardiomyopathy	OMIM:212350
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia	OMIM:615863
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Fatigue, Type I diabetes mellitus	OMIM:618549
Mpi-Cdg	Hypoglycemia	ORPHA:79319
Lujo Hemorrhagic Fever	Fatigue, Myalgia, Cardiac arrest, Gastrointestinal hemorrhage	ORPHA:319213
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased plasma carnitine, Reduced ejection fraction, Nonketotic hypoglycemia, Hepatomegaly, Sud...	OMIM:201475
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Elevated circulating creatine kinase concentration, Fatigue	OMIM:253601
Atrial Septal Defect, Sinus Venosus Type	Premature atrial contractions, Cardiac conduction abnormality, Atrial flutter, Tricuspid regurgit...	ORPHA:99105
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp...	OMIM:238600
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis	OMIM:613195
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c...	OMIM:248370
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea	ORPHA:2528
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Fatigue, Increased serum iron, Cardiomyopathy	OMIM:604250
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce...	OMIM:212138
Xeroderma Pigmentosum, Complementation Group G	Cataract	OMIM:278780
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia...	ORPHA:567548
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Barth Syndrome	Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Dilated cardiomyopathy, Fatigue...	OMIM:302060
Pediatric Hepatocellular Carcinoma	Abdominal pain, Elevated alpha-fetoprotein, Hepatomegaly, Fatigue, Epigastric pain	ORPHA:33402
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration	ORPHA:6
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Familial Multiple Lipomatosis	Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance	ORPHA:199276
Pfapa Syndrome	Arthralgia, Abdominal pain, Hepatomegaly, Splenomegaly, Fatigue	ORPHA:42642
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir...	ORPHA:247598
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating...	OMIM:144250
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Arthralgia, Arrhythmia, Abnormality of iron homeost...	ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Fatigue	OMIM:613157
Ebstein Malformation Of The Tricuspid Valve	Atrial septal defect, Arrhythmia, Chest pain, Abnormal endocardium morphology, Imperforate tricus...	ORPHA:1880
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Tachycardia, Splenomegaly, Fatigue	ORPHA:90037
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia	OMIM:617872
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista...	OMIM:262190
Babesiosis	Arthralgia, Hepatomegaly, Myocardial infarction, Congestive heart failure, Splenomegaly, Fatigue,...	ORPHA:108
Undifferentiated Pleomorphic Sarcoma	Fatigue	ORPHA:2023
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas...	OMIM:267700
Alstrom Syndrome	Hyperinsulinemia, Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Hyp...	OMIM:203800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi...	ORPHA:79237
Mast Cell Sarcoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:66661
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Impaired continence	ORPHA:289504
Congenital Cataracts, Hearing Loss, And Neurodegeneration	Cataract, Developmental cataract	OMIM:614482
Typhoid	Arthralgia, Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Epistaxis, Hepatomegaly, Car...	ORPHA:99745
Retinitis Pigmentosa 37	Cataract	OMIM:611131
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Chest pain, Pericardial effusion, Syncope, Hepatomegaly, Left bundle bra...	OMIM:115197
Corneal Endothelial Dystrophy	Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A...	OMIM:217700
Insulinoma	Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Fatigue,...	ORPHA:97279
Congenital Corneal Opacities, Cornea Guttata, And Corectopia	Ectopia pupillae, Corneal opacity	OMIM:608484
Methylmalonic Acidemia With Homocystinuria	Fatigue	ORPHA:26
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Arthralgia, Diffuse alveolar hemorrhage, Hypoalbumi...	OMIM:616050
Congenital Disorder Of Glycosylation, Type It	Fatigue, Elevated circulating creatine kinase concentration, Hypoglycemia, Sudden cardiac death, ...	OMIM:614921
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Iris coloboma	OMIM:212550
Acth-Independent Macronodular Adrenal Hyperplasia 2	Fatigue, Hyperglycemia, Increased circulating cortisol level, Hypertension	OMIM:615954
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:300438
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
H Syndrome	Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Hernia, Diabetes mellitus, Hepatosplenomegaly	ORPHA:168569
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Fatigue	OMIM:133100
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Abdominal pain, In...	OMIM:235200
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Hypert...	ORPHA:540
Polymyositis	Arthralgia, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal mitral valve morpholo...	ORPHA:732
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Postexertional malaise, Highly elevated creatine kinase, Tachycardia, Elevated circulating creati...	ORPHA:368
Classical-Like Ehlers-Danlos Syndrome Type 1	Arthralgia, Arrhythmia, Gastrointestinal hemorrhage, Mitral valve prolapse, Fatigue, Myalgia	ORPHA:230839
Follicular Lymphoma	Fatigue, Night sweats, Splenomegaly	ORPHA:545
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Increased serum pyruva...	OMIM:619355
Coloboma, Ocular, Autosomal Recessive	Cataract, Iris coloboma, Lens subluxation	OMIM:216820
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Anterior Segment Dysgenesis 5	Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano...	OMIM:604229
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l...	OMIM:241150
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Myopathy, Centronuclear, 4	Fatigue, Myalgia	OMIM:614807
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Adult-Onset Still Disease	Arthralgia, Pericarditis, Abdominal pain, Myalgia, Abnormal circulating lipid concentration, Hepa...	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:618329
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Fatigue, Asthenia, Splenomegaly	OMIM:618107
Rheumatic Fever	Arthralgia, Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal he...	ORPHA:3099
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas...	OMIM:231100
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortene...	OMIM:261740
Combined Oxidative Phosphorylation Deficiency 42	Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom...	OMIM:618839
Infantile Liver Failure Syndrome 2	Hyperammonemia, Cardiomyopathy, Hypoglycemia	OMIM:616483
Combined Oxidative Phosphorylation Deficiency 40	Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Hypogly...	OMIM:618835
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Dubin-Johnson Syndrome	Hepatomegaly, Fatigue, Conjugated hyperbilirubinemia, Abdominal pain	ORPHA:234
Insulin-Resistance Syndrome Type B	Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli...	ORPHA:2298
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Solitary Fibrous Tumor/Hemangiopericytoma	Night sweats, Low back pain, Fatigue, Hypophosphatemic rickets, Hypoglycemia, Reduced C-peptide l...	ORPHA:2126
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic fatigue	ORPHA:100083
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Increased serum pyruvate, Splenomegaly, Hyperalaninemia, Hyperprolinemia, ...	OMIM:619046
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly	OMIM:261680
Cardiomyopathy, Familial Hypertrophic 27	Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation	OMIM:618052
Familial Cold Autoinflammatory Syndrome 1	Arthralgia, Chills, Elevated circulating C-reactive protein concentration, Fatigue, Myalgia	OMIM:120100
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran...	ORPHA:98907
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con...	ORPHA:79096
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Abdominal pain, Hypoglycemia, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Elevate...	OMIM:603553
Myasthenic Syndrome, Congenital, 21, Presynaptic	Fatigue	OMIM:617239
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Fatigue, Hyperalaninemia	OMIM:251950
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Increased blood urea nitrogen, Fat...	ORPHA:230
Oculocerebral Hypopigmentation Syndrome Of Preus	Cataract	OMIM:257790
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Hypoglycemia	OMIM:618958
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal...	ORPHA:1329
Familial Atrial Myxoma	Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m...	ORPHA:615
Autosomal Dominant Optic Atrophy Plus Syndrome	Fatigue, Diabetes mellitus, Cardiomyopathy	ORPHA:1215
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased plasma carnitine, Nonketotic hypoglycemia, Cerebellar hemorrhage, Sudden cardiac death,...	ORPHA:99901
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Myalgia, Fatigue, Diabetes mellitus, Bradycardia, Cardiomyopathy	OMIM:609286
Autoimmune Hemolytic Anemia	Arrhythmia, Abdominal pain, Congestive heart failure, Splenomegaly, Fatigue	ORPHA:98375
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypoglycemia	OMIM:617156
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Carnitine-Acylcarnitine Translocase Deficiency	Decreased plasma carnitine, Fasting hypoglycemia, Arrhythmia, Hypotension, Hypoketotic hypoglycem...	ORPHA:159
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Cold Agglutinin Disease	Arthralgia, Back pain, Hepatomegaly, Splenomegaly, Fatigue	ORPHA:56425
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Chest pain, Abdominal pain, Epistaxis, Cardiac arrest, Fatigue, Myalgia	ORPHA:319218
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Achromatopsia 3	Cataract	OMIM:262300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen	OMIM:619313
Carnitine Palmitoyltransferase Ii Deficiency	Arrhythmia, Decreased plasma total carnitine, Episodic abdominal pain, Hypoketotic hypoglycemia, ...	ORPHA:157
Usher Syndrome Type 3	Iris hypopigmentation, Astigmatism, Cataract	ORPHA:231183
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Lipoatrophy, Hypertriglyceridemia	ORPHA:363618
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus	OMIM:616026
Hsd10 Disease, Infantile Type	Hyperammonemia, Cardiomegaly, Hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:391428
Alpha-Thalassemia-Myelodysplastic Syndrome	Fatigue, Splenomegaly	ORPHA:231401
Non-Functioning Paraganglioma	Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Fat...	ORPHA:94080
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Microphakia, Lens subluxation	ORPHA:171844
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
2P21 Microdeletion Syndrome	Hypocalcemia, Hypoglycemia	ORPHA:163693
Norrie Disease	Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma	OMIM:310600
Acth Deficiency, Isolated	Fasting hypoglycemia, Jaundice, Decreased circulating cortisol level, Cholestasis	OMIM:201400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:5
Leishmaniasis	Arthralgia, Night sweats, Hepatomegaly, Hypoalbuminemia, Splenomegaly, Fatigue	ORPHA:507
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre...	ORPHA:98908
Niemann-Pick Disease Type B	Cirrhosis, Abnormal circulating lipid concentration, Cholelithiasis, Neoplasm of the liver, Hepat...	ORPHA:77293
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperammonemia, Hyperglutaminemia, Hepatomegaly, Acute hyperammonemia, Hyperalaninemia, Cerebral ...	ORPHA:927
Polycystic Kidney, Cataract, And Congenital Blindness

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