Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Fabp3tm1a(EUCOMM)Wtsi HET Early adult 6.93×10-05
cataract Fabp3tm1a(EUCOMM)Wtsi HET Early adult 8.42×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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