Gene: Fabp3 MGI:95476

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Gene Summary

fatty acid binding protein 3, muscle and heart
H-FABP,  Fabph-4,  Fabph-1,  Fabph4,  Fabph1,  Mdgi,  Fabp3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Fabp3tm1a(EUCOMM)Wtsi HET Early adult 8.42×10-05
abnormal lens morphology Fabp3tm1a(EUCOMM)Wtsi HET Early adult 6.93×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
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
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 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
Cataract, Iris coloboma ORPHA:79326
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
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
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
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
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
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
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
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
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
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
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
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
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
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