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Gene: Fabp3 MGI:95476

Gene Summary

Name:

fatty acid binding protein 3, muscle and heart

Synonyms:

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Fabp3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal lens morphology	Fabp3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.93×10^-05
cataract	Fabp3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.42×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fabp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Fabp3 (0 diseases)
Human diseases predicted to be associated with Fabp3 (1085 diseases)

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

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

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
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
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 7	Developmental cataract	OMIM:115660
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ...	OMIM:232700
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
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Lipase Deficiency, Combined	Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia	OMIM:246650
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase...	OMIM:608600
Nathalie Syndrome	Cataract	ORPHA:2663
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t...	OMIM:612526
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Hypertriglyceridemia	ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ...	ORPHA:280356
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
X-Linked Retinoschisis	Cataract	ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cataract 47	Cataract, Microcornea	OMIM:612018
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy, Sudden death	OMIM:609016
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Hypertriglyceridemia 1	Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia	OMIM:145750
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Galactosemia Ii	Cataract	OMIM:230200
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Galactosemia Iv	Cataract	OMIM:618881
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st...	ORPHA:79085
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus...	ORPHA:435660
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ...	OMIM:615238
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine...	OMIM:616516
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia	ORPHA:293964
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis...	ORPHA:363400
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L...	OMIM:615381
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss...	ORPHA:435651
Ethanolaminosis	Cardiomegaly	OMIM:227150
Macrophagic Myofasciitis	Arthralgia, Myalgia, Fatigue	ORPHA:592
Nathalie Syndrome	Cataract	OMIM:255990
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl...	ORPHA:324575
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab...	OMIM:151660
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Pontiac Fever	Myalgia, Fatigue	ORPHA:99748
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles...	OMIM:607616
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog...	OMIM:620211
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:79159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo...	ORPHA:26793
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Mantle Cell Lymphoma	Fatigue, Splenomegaly	ORPHA:52416
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Arrhythmia, Ar...	OMIM:606069
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s...	ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los...	ORPHA:2348
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Hyperammonemia, Arrhythmia, Hepatomegaly	ORPHA:35
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Congenital Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Lipodystrophy, Hype...	ORPHA:528
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Short Stature Due To Ghsr Deficiency	Abdominal pain, Hypoglycemia	ORPHA:314811
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Transient hyperlipidemia, Fatigue, Hepatom...	ORPHA:156
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce...	ORPHA:276556
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine,...	OMIM:619048
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hypoglycemia, Cardiomyopathy, Hyperlipidemia, Elevated circulating creat...	OMIM:232400
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Hypoketotic hypoglycemia	OMIM:610768
Familial Atrial Fibrillation	Exercise intolerance, Chest pain, Palpitations, Syncope, Fatigue, Atrial fibrillation, Myocardial...	ORPHA:334
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Type I diabetes mellitus, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Hyperinsulinemia, H...	ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Fatigue, Hyperinsulinemic hypo...	ORPHA:276608
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure	ORPHA:2022
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Decreas...	OMIM:618620
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Fatigue, Splenomegaly	ORPHA:75563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Type I diabetes mellitus, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Hyperinsulinemia, H...	ORPHA:276580
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine k...	OMIM:618838
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Tremor, Hereditary Essential, 2	Fatigue	OMIM:602134
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran...	ORPHA:2088
Aniridia 3	Cataract, Aniridia	OMIM:617142
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k...	OMIM:600649
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm...	ORPHA:154
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Chest pain, Palpitations, Abnormal cardiovascular system physiology, Pul...	ORPHA:422
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Panniculitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Congenital Isolated Acth Deficiency	Hypotension, Hyponatremia, Decreased circulating cortisol level, Fatigue, Hypoglycemic seizures, ...	ORPHA:199296
Temple Syndrome	Flexion contracture, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglycerid...	OMIM:616222
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Combined Oxidative Phosphorylation Deficiency 28	Abdominal pain, Increased serum pyruvate, Fatigue, Congestive heart failure	OMIM:616794
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Fatigue, Ri...	OMIM:265400
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, A...	ORPHA:42
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, De...	ORPHA:280365
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue	OMIM:619477
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Sudden death, Tetralogy of Fallot, Hypocalcemia, Patent for...	OMIM:601005
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati...	ORPHA:1414
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated circulating acylcarnitine concentration, Exercise intolerance, ...	ORPHA:228305
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradyca...	OMIM:614702
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat...	ORPHA:1349
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration	ORPHA:446
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Exercise intolerance, Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Elevated circulating ...	OMIM:618120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Cataract 48	Cataract	OMIM:618415
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Glycosuria, Elevated circulating aspartate aminotransfera...	OMIM:617253
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Adiposis Dolorosa	Chronic pain, Arthralgia, Fatigue	OMIM:103200
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating selenium concentration, Fasting hypoglycemia	ORPHA:171706
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia	ORPHA:664
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hypertrophic cardiomyopathy	OMIM:246900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Decreased circulating carnitine con...	ORPHA:2394
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Cholangiocarcinoma	Abdominal pain, Fatigue	ORPHA:70567
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:66628
Glucocorticoid Resistance, Generalized	Fatigue, Hypertension, Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Epiphyseal Dysplasia, Multiple, 2	Knee pain, Fatigue, Foot pain	OMIM:600204
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Cardiomyopathy	ORPHA:26792
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Hypertroph...	OMIM:212140
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, He...	OMIM:613327
Familial Chylomicronemia Syndrome	Acute pancreatitis, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip...	ORPHA:444490
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Splenomegaly, Hepatomegaly, Chronic fatigue, Bone pain	OMIM:610539
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Dysbetalipoproteinemia	Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholester...	ORPHA:412
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy...	OMIM:608594
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Fatigue, Hyperi...	ORPHA:263455
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:179494
Congenital Varicella Syndrome	Cataract	ORPHA:291
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Glycogen Storage Disease Ixb	Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia	OMIM:261750
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ch...	ORPHA:3287
Hypothyroidism, Congenital, Nongoitrous, 7	Fatigue	OMIM:618573
Congenital Heart Block	Atrioventricular block, Exercise intolerance, Second degree atrioventricular block, Third degree ...	ORPHA:60041
Mucolipidosis Type Iii	Abnormal heart valve morphology, Fatigue, Abnormal aortic valve morphology	ORPHA:577
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:264580
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas...	ORPHA:98855
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Splenomegaly, Lipodystrophy, Hypertrigly...	OMIM:617591
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycinemia, Hyperamylasemia, Elevated circulating...	OMIM:619386
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:86893
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Exercise intolerance, Hypertrophic cardiomyopathy, Myalgia, Elevated circulating creatine kinase ...	OMIM:615418
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Abnormal heart morphology, Hypoglycemia	ORPHA:231147
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration	OMIM:300438
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia	ORPHA:6
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Chest pain, Cerebral ischemia, Right bundle branch block, Imperforate t...	ORPHA:1880
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Elev...	OMIM:269700
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Type I diabetes mellitus, Fatigue	OMIM:618549
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy	ORPHA:67048
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hyper...	OMIM:212138
Morm Syndrome	Cataract	ORPHA:75858
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Liddle Syndrome	Cerebral ischemia, Hypokalemia, Arrhythmia, Fatigue, Hypertension	ORPHA:526
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, Hy...	OMIM:620609
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ...	ORPHA:650
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypog...	OMIM:617872
Schnitzler Syndrome	Vasculitis, Myalgia, Splenomegaly, Arthralgia, Fatigue, Hepatomegaly, Bone pain	ORPHA:37748
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu...	OMIM:201475
X-Linked Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas...	ORPHA:98853
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Myalgia, Mitral regur...	OMIM:620300
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Fatigue	ORPHA:79283
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:277700
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Fatigue	OMIM:616326
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue	ORPHA:199276
Pfapa Syndrome	Splenomegaly, Arthralgia, Fatigue, Hepatomegaly, Abdominal pain	ORPHA:42642
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Corticosteroid-Binding Globulin Deficiency	Hypotension, Asthenia, Hypokalemia, Decreased circulating cortisol level, Fatigue, Hypertension, ...	OMIM:611489
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Splenomegaly, Fatigue, Tachycardia	ORPHA:90037
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ...	OMIM:608612
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou...	ORPHA:57777
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Myalgia, Splenomegaly, Arrhythmia, Arthralgia, Abdominal ...	ORPHA:99745
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala...	ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 36	Exercise intolerance, Myalgia, Hyperalaninemia, Hypoglycemia	OMIM:617950
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Babesiosis	Congestive heart failure, Myalgia, Splenomegaly, Arthralgia, Fatigue, Hepatomegaly, Myocardial in...	ORPHA:108
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Pediatric Hepatocellular Carcinoma	Epigastric pain, Fatigue, Hepatomegaly, Abdominal pain, Elevated circulating alpha-fetoprotein co...	ORPHA:33402
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Systolic heart murmur, Ao...	ORPHA:3092
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Car...	OMIM:255120
Combined Malonic And Methylmalonic Acidemia	Impaired continence, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Hyperglyc...	ORPHA:465508
Insulinoma	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Palpitations, Reactive hypogl...	ORPHA:97279
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Undifferentiated Pleomorphic Sarcoma	Fatigue	ORPHA:2023
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Abdominal pain, Hyperammonemia, Hypoglycemia	OMIM:620137
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Myalg...	OMIM:616050
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia, Cardiomyopathy	OMIM:616483
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Fatigue, Elevated circulating creatine kinase concentration	OMIM:253601
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Fatigue, Hypertension, Increased circulating cortisol level	OMIM:615954
Malonyl-Coa Decarboxylase Deficiency	Abdominal pain, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia	OMIM:248360
Methylmalonic Acidemia With Homocystinuria	Fatigue	ORPHA:26
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Mast Cell Sarcoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:66661
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Exercise intolerance, Postexertional symptom exacerbation, Hypertrophic cardiomyopathy, Elevated ...	ORPHA:368
Follicular Lymphoma	Night sweats, Fatigue, Splenomegaly	ORPHA:545
Sengers Syndrome	Exercise intolerance, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Fatigue, Card...	OMIM:212350
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hypoglycemia, Congestive heart failure...	OMIM:619355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Diarrhea 13	Hypoalbuminemia, Recurrent hypoglycemia	OMIM:620357
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased circulating cortisol level, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neon...	ORPHA:79644
Erythrocytosis, Familial, 1	Splenomegaly, Fatigue, Cerebral hemorrhage, Hypertension, Myocardial infarction	OMIM:133100
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Fatigue	OMIM:251950
Combined Oxidative Phosphorylation Deficiency 33	Exercise intolerance, Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:617713
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Myalgia, Mitral valve prolapse, Arrhythmia, Arthralgia, Fatigue	ORPHA:230839
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Mitochondrial Complex I Deficiency, Nuclear Type 29	Exercise intolerance, Abnormal heart morphology, Hypertrophic cardiomyopathy, Myalgia, Palpitatio...	OMIM:618250
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f...	OMIM:115197
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Dubin-Johnson Syndrome	Hepatomegaly, Abdominal pain, Fatigue, Conjugated hyperbilirubinemia	ORPHA:234
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f...	OMIM:603553
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf...	OMIM:619418
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonata...	OMIM:619046
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract...	OMIM:248370
H Syndrome	Hepatosplenomegaly, Hernia, Lipodystrophy, Hypertriglyceridemia, Camptodactyly, Diabetes mellitus	ORPHA:168569
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Hypertension, Hypoglycemia	OMIM:201910
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir...	OMIM:235200
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Laryngeal Neuroendocrine Tumor	Chronic fatigue, Elevated circulating carcinoembryonic antigen concentration	ORPHA:100083
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased circulating cortisol level, Cardiomyopathy, Elevated circulating creatine...	OMIM:618839
Methanol Poisoning	Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia	ORPHA:31825
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Exercise intolerance, Cardiomyopathy, Myalgia, Arrhythmia, Fatigue, Bradycardia, Diabetes mellitus	OMIM:609286
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula...	OMIM:618835
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Fatigue, Increas...	OMIM:241150
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase...	OMIM:231100
Stickler Syndrome, Type V	Cataract	OMIM:614284
Glycogen Storage Disease Ixd	Exercise intolerance, Exercise-induced myalgia, Hypoglycemia, Elevated circulating creatine kinas...	OMIM:300559
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Fatigue, Splenomegaly, Asthenia	OMIM:618107
Rheumatic Fever	Epistaxis, Abnormal heart valve morphology, Chest pain, Abnormal aortic valve morphology, Abnorma...	ORPHA:3099
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Essential Thrombocythemia	Erythromelalgia, Chest pain, Transient ischemic attack, Splenomegaly, Fatigue, Myocardial infarction	ORPHA:3318
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria,...	ORPHA:2298
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent...	ORPHA:79096
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Cerebral ischemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Fatigue, Hyperalanine...	ORPHA:927
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Autosomal Dominant Optic Atrophy Plus Syndrome	Fatigue, Diabetes mellitus, Cardiomyopathy	ORPHA:1215
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin...	ORPHA:230
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Exercise intolerance, Dilated cardiomyopathy, Hypoglycemia, Ventric...	OMIM:614921
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:99901
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Decreased adipose tissue around neck, Absence of su...	OMIM:606721
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Exercise intolerance, Cardiomyopathy, Hypoketot...	ORPHA:157
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Chronic fatigue, Pulmonary arterial hypertension	OMIM:234810
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Myalgia, Hyperammo...	OMIM:619051
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Night sweats, Low back pain, Fati...	ORPHA:2126
Cold Agglutinin Disease	Splenomegaly, Arthralgia, Fatigue, Hepatomegaly, Back pain	ORPHA:56425
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Fatigue, Hepatomegaly	OMIM:619463
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Alpha-Thalassemia-Myelodysplastic Syndrome	Fatigue, Splenomegaly	ORPHA:231401
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Fatigue, Hepatomegaly, Heart murmur	ORPHA:99931
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Barth Syndrome	Exercise intolerance, Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Con...	OMIM:302060
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Chest pain, Palpita...	ORPHA:94080
Classic Hodgkin Lymphoma	Chest pain, Splenomegaly, Fatigue, Hepatomegaly, Bone pain	ORPHA:391
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia, Hypoglycemia	ORPHA:391428
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Hepatomegaly, Impaired gluconeogenesis	OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia	OMIM:619170
Glucocorticoid Deficiency 3	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:609197
Familial Cold Autoinflammatory Syndrome 1	Myalgia, Arthralgia, Fatigue, Elevated circulating C-reactive protein concentration, Chills	OMIM:120100
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:5
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Hypoglycemia	OMIM:618958
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine ...	OMIM:608836
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Leishmaniasis	Hypoalbuminemia, Splenomegaly, Night sweats, Arthralgia, Fatigue, Hepatomegaly	ORPHA:507
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Exercise intolerance, Decreased circulating car...	ORPHA:26791
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Post-Traumatic Pituitary Deficiency	Hypotension, Fatigue, Hypoglycemia	ORPHA:95619
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, Increased ...	ORPHA:86816
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Mitochondrial Complex I Deficiency, Nuclear Type 20	Exercise intolerance, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hypertrophi...	OMIM:611126
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Jaundice, Fasting hypoglycemia	OMIM:201400
2P21 Microdeletion Syndrome	Hypocalcemia, Hypoglycemia	ORPHA:163693
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Systemic Capillary Leak Syndrome	Hypotension, Myalgia, Arrhythmia, Fatigue, Constitutional symptom, Myocarditis, Abdominal pain, P...	ORPHA:188
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Hyperglycemia, Shock, Abnormal glucose homeostasis, Hypon...	ORPHA:391673
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre...	ORPHA:228308
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia	ORPHA:363618
Whipple Disease	Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Chest pain, Myalgia, Splenomegaly, ...	ORPHA:3452
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur...	OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Achromatopsia 3	Cataract	OMIM:262300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Hepatomegaly	OMIM:619064
Hepatitis Delta	Malaise, Abdominal pain, Fatigue	ORPHA:402823
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr...	OMIM:203800
Atrial Septal Defect, Coronary Sinus Type	Exercise intolerance, Right ventricular failure, Bundle branch block, Presyncope, Transient ische...	ORPHA:99104
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hype...	OMIM:251110
Nipah Virus Disease	Hypotension, Myalgia, Fatigue	ORPHA:99825
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Asthenia,...	ORPHA:829
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic gl...	ORPHA:79259
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly...	ORPHA:536532
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ...	ORPHA:348
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Gaisböck Syndrome	Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabe...	ORPHA:90041
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Hepatomegaly	OMIM:606054
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Legionnaires Disease	Hypotension, Chest pain, Myalgia, Splenomegaly, Hyponatremia, Arrhythmia, Arthralgia, Fatigue, My...	ORPHA:549
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Fatigue, Elevated circulating creatine kinase concentration	OMIM:613157
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Hepatomegal...	OMIM:251000
Alexander Disease	Fatigue	OMIM:203450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Hepatomegaly, Diabetes mellitus	OMIM:616026
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Decreased circulating carnitine concentration, Hypoglycemia	OMIM:201450
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Glycogen Storage Disease Ia	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Hepatomegaly, Hyp...	OMIM:232200
Familial Cold Urticaria	Arthralgia, Abdominal pain, Myalgia, Fatigue	ORPHA:47045
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Calcinosis	ORPHA:90154
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism, Hyperbilirubinemia, Splenomegaly, Fatigue, Hepatomegaly	OMIM:185000
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Spontaneous Periodic Hypothermia	Arrhythmia, Fatigue	ORPHA:29822
Primary Familial Polycythemia	Epistaxis, Abdominal pain, Arthralgia, Fatigue	ORPHA:90042
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Dilated cardiomyopathy	OMIM:231530
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Chest pain, P...	ORPHA:99094
Familial Glucocorticoid Deficiency	Hypotension, Hypertrophic cardiomyopathy, Hyponatremia, Decreased circulating cortisol level, Ket...	ORPHA:361
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Gangrene, Arthralgia, Fatigue, Bone pain	ORPHA:53721
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Fatigue, Type II diabetes mellitus, Diabetes mellitus	OMIM:274300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Fatigue	ORPHA:314632
Infantile Sialic Acid Storage Disease	Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubinemia	OMIM:269920
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Hyperammonemia, Hypoglycemia	OMIM:614739
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Arthralgia, Fatigue, Increased total bilirubin	ORPHA:90036
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia	OMIM:614736
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Unclassified Myelodysplastic Syndrome	Night sweats, Fatigue	ORPHA:98827
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Myalgia, Cardiomegaly, Fatigue	OMIM:619259
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Arthralgia, Fatigue, Tachycardia	ORPHA:90033
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Glycerol Kinase Deficiency	Hyperglycerolemia, Chronic pancreatitis, Hypoglycemia, Hypertriglyceridemia	OMIM:307030
Athyreosis	Fatigue	ORPHA:95713
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Fatigue	ORPHA:589905
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Camptodactyly of finger, Elbow flexion c...	OMIM:256040
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Chest pain, Myalgia, Arthralgia, Fatigue, Elevated...	ORPHA:79126
Becker Muscular Dystrophy	Exercise intolerance, Myalgia, Fatigue, Elevated circulating creatine kinase concentration	ORPHA:98895
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Hypoketo...	ORPHA:746
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ...	ORPHA:552
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Houge-Janssens Syndrome 1	Fatigue, Hypoglycemia	OMIM:616355
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol...	OMIM:619127
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Portal hypertension, Arthralgia, Fa...	ORPHA:98850
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Al Amyloidosis	Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Postural hyp...	ORPHA:85443
Beta-Ketothiolase Deficiency	Hypotension, Hypoglycemia, Hyperglycemia, Body odor, Hyperammonemia, Hyperuricemia, Hepatomegaly,...	ORPHA:134
Late-Onset Isolated Acth Deficiency	Hypotension, Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circu...	ORPHA:199299
Hypotonia-Cystinuria Syndrome	Fatigue	ORPHA:163690
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Primary Myelofibrosis	Hepatosplenomegaly, Portal hypertension, Splenomegaly, Flank pain, Fatigue, Constitutional sympto...	ORPHA:824
Immunodeficiency, Common Variable, 11	Fatigue	OMIM:615767
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Intellectual Disability And Myopathy Syndrome	Left ventricular systolic dysfunction, Fatigue	OMIM:619719
Acquired Methemoglobinemia	Palpitations, Arrhythmia, Abdominal pain, Syncope, Fatigue, Tachycardia	ORPHA:464453
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia, Decreased circulating cortisol level	OMIM:600955
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Autosomal Dominant Spastic Paraplegia Type 37	Fatigue	ORPHA:171612
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr...	ORPHA:542323
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect, Hypoglycemia	OMIM:608688
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ...	ORPHA:189427
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Spinocerebellar Ataxia, Autosomal Recessive 13	Fatigue	OMIM:614831
Postpoliomyelitis Syndrome	Arthralgia, Myalgia, Fatigue, Pain	ORPHA:2942
Papa Syndrome	Type I diabetes mellitus, Arthralgia, Fatigue	ORPHA:69126
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Eleva...	OMIM:300280
Parkinsonism-Dystonia 2, Infantile-Onset	Fatigue	OMIM:618049
Cataract 49	Posterior cortical cataract	OMIM:619593
Hyperprolinemia Type 2	Exercise intolerance, Myalgia, Hyperglycinemia, Chronic fatigue, Hyperprolinemia, Hyperalaninemia...	ORPHA:79101
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Iris coloboma, Buphthalmos	OMIM:212550
Creatine Phosphokinase, Elevated Serum	Myalgia, Fatigue, Elevated circulating creatine kinase concentration	OMIM:123320
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Hyperglycinemia, Hypoglycemia	OMIM:245400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypertrophic cardiomyopathy, Tors...	OMIM:616878
Blue Diaper Syndrome	Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia	ORPHA:94086
Refractory Anemia	Abnormal cardiac ventricular function, Fatigue	ORPHA:98826
Prader-Willi Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Decrease...	OMIM:176270
Mal De Débarquement	Fatigue	ORPHA:210272
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Evans Syndrome	Epistaxis, Syncope, Fatigue	ORPHA:1959
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myalgia, Elevated c...	ORPHA:93672
Cryptogenic Organizing Pneumonia	Chest pain, Night sweats, Arthralgia, Fatigue, Elevated circulating C-reactive protein concentration	ORPHA:1302
Fabry Disease	Mitral regurgitation, Arrhythmia, Arthralgia, Abdominal pain, Hypertrophic cardiomyopathy, Bundle...	ORPHA:324
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fatigue, Elevated circulating creatine kinase concentration	ORPHA:209335
Acute Adrenal Insufficiency	Hypotension, Hypoglycemia, Increased circulating renin level, Hyperuricemia, Hyponatremia, Decrea...	ORPHA:95409
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Erythromelalgia, Budd-Chiari syndrome...	ORPHA:729
Congenital Sucrase-Isomaltase Deficiency	Abdominal pain, Fatigue, Abdominal colic, Bowel incontinence	ORPHA:35122
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Intracranial hemorrhage, Fatigue, Splenomegaly	ORPHA:3226
Cronkhite-Canada Syndrome	Hepatomegaly, Abdominal pain, Fatigue, Splenomegaly	ORPHA:2930
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardi...	OMIM:266500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Cardiomyopathy	OMIM:617710
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:620646
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Exercise intolerance, Atrial flutter, Hyp...	ORPHA:137675
Cinca Syndrome	Myalgia, Splenomegaly, Arthralgia, Fatigue, Elevated circulating C-reactive protein concentration...	ORPHA:1451
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Exercise intolerance, Fatigue	ORPHA:2032
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Arthralgia, Fatigue	OMIM:180300
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Chest pain, Ischemic str...	ORPHA:679
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Arthralgia, Fatigue	OMIM:615399
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Chronic fatigue, Exercise intolerance, Myalgia	ORPHA:254875
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232220
Postorgasmic Illness Syndrome	Palpitations, Hypertension, Fatigue	ORPHA:279947
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Myalgia, Arthralgia, Chronic fatigue	OMIM:191900
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Fatigue, Chills	ORPHA:86884
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia	ORPHA:31150
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract	OMIM:601794
Myofibrillar Myopathy 11	Fatigue	OMIM:619178
Cystinosis	Type I diabetes mellitus, Portal hypertension, Hypokalemia, Hypophosphatemia, Fatigue	ORPHA:213
Lyme Disease	Atrioventricular block, Myalgia, Arrhythmia, Arthralgia, Fatigue	ORPHA:91546
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Recurrent hypoglycemia, Hyperammonemia, Hyperuricemia, Fatig...	ORPHA:20
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Classic Galactosemia	Hepatomegaly, Hypoglycemia	ORPHA:79239
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:202200
Refractory Anemia With Excess Blasts	Palpitations, Abnormal circulating albumin concentration, Abnormal circulating protein concentrat...	ORPHA:86839
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:230851
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Hypoglycemia	ORPHA:35708
Pituitary Apoplexy	Hypotension, Increased circulating cortisol level, Hypoglycemia, Trigeminal neuralgia, Hyponatrem...	ORPHA:95613
Eosinophilic Fasciitis	Arthralgia, Myalgia, Fatigue	ORPHA:3165
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Hypoglycemia	OMIM:618253
Reynolds Syndrome	Myalgia, Telangiectasia of the skin, Fatigue, Hepatomegaly, Mucosal telangiectasiae	ORPHA:779
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased total iron binding capacity, Hyperbilirubinem...	ORPHA:98870
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Hyperlipidemia	ORPHA:90153
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Elevated circulating L-alloisoleuci...	OMIM:248600
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	OMIM:619573
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Fatigue, Hypocalcemia, Bone pain	ORPHA:89937
Atypical Werner Syndrome	Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Gen...	ORPHA:79474
Liposarcoma	Abdominal pain, Fatigue	ORPHA:69078
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Hypoglycemia, Abnormal EKG, Hyperammonemia, Ele...	ORPHA:480864
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv...	ORPHA:70591
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Chest pain, Myalgia, Splenomegaly, Pulmonary arterial hypertension, ...	ORPHA:809
Cholera	Hypovolemic shock, Hypotension, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hyp...	ORPHA:173
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Shigellosis	Hypovolemic shock, Hypoglycemia, Asthenia, Hyponatremia, Abdominal pain, Fatigue, Myocarditis, Ab...	ORPHA:810
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate...	ORPHA:97214
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Giant Cell Arteritis	Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:397
Avian Influenza	Hypoalbuminemia, Congestive heart failure, Chest pain, Myalgia, Elevated circulating creatine kin...	ORPHA:454836
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Chest pain, Palpita...	ORPHA:276621
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hepat...	OMIM:246450
Thymic Carcinoma	Chest pain, Fatigue	ORPHA:99868
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia	ORPHA:73272
Glutaric Acidemia I	Hepatomegaly, Elevated circulating glutaric acid concentration, Hypoglycemia	OMIM:231670
Klatskin Tumor	Hepatomegaly, Abdominal pain, Fatigue	ORPHA:99978
Chédiak-Higashi Syndrome	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ...	ORPHA:167
Satoyoshi Syndrome	Fatigue, Mildly elevated creatine kinase	OMIM:600705
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hyperammonemia, Hypoglycemia	OMIM:615453
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis	OMIM:617600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Hepatomegal...	OMIM:251880
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Isolated Agammaglobulinemia	Fatigue	ORPHA:229717
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
Glycogen Storage Disease Ic	Spider hemangioma, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Pulmonary arterial h...	OMIM:232240
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Chronic Myeloid Leukemia	Fatigue, Splenomegaly	ORPHA:521
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Non-Acquired Isolated Growth Hormone Deficiency	Neonatal hypoglycemia	ORPHA:631
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Pain, Hyponatremia, Arthralgia, Fatigue,...	ORPHA:247353
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Autosomal Dominant Optic Atrophy, Classic Form	Myalgia, Diabetes mellitus, Fatigue	ORPHA:98673
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Fatigue, Cerebral hemorrhage	OMIM:263400
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Fatigue, Hyponatremia, Chills	ORPHA:1930
Sheehan Syndrome	Hypoglycemia, Palpitations, Hyponatremia, Decreased circulating cortisol level, Arthralgia, Ortho...	ORPHA:91355
Vexas Syndrome	Arteritis, Night sweats, Arthralgia, Fatigue, Elevated circulating C-reactive protein concentration	OMIM:301054
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Hypoglycemia, Bradycardia	OMIM:220120
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Exercise intolerance, Hyperbilirubinemia, Splenomegaly, Fatigue, Abd...	ORPHA:288
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hypouricemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac...	OMIM:227810
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Q Fever	Vasculitis, Abnormal heart valve morphology, Hepatosplenomegaly, Myalgia, Splenomegaly, Night swe...	ORPHA:781
Benign Recurrent Intrahepatic Cholestasis	Abdominal pain, Fatigue	ORPHA:65682
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Fatigue, Elevated circulating creatine kinase concentration	OMIM:607426
Inhalational Anthrax	Hypotension, Fatigue, Internal hemorrhage	ORPHA:247257
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspi...	ORPHA:457279
Orthostatic Hypotension 1	Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid concentration, Orthostatic hypote...	OMIM:223360
Poems Syndrome	Visceromegaly, Splenomegaly, Pain, Pulmonary arterial hypertension, Fatigue, Hepatomegaly, Perica...	ORPHA:2905
Immunodeficiency 10	Hepatomegaly, Splenomegaly, Hypoglycemia	OMIM:612783
Autosomal Dominant Progressive External Ophthalmoplegia	Exercise intolerance, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Glucose...	ORPHA:254892
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia	OMIM:231680
Generalized Glucocorticoid Resistance Syndrome	Increased circulating cortisol level, Hypoglycemia, Hypokalemia, Fatigue, Hypertension	ORPHA:786
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Fatigue, Atrial septal defect, Ventricular septal defect	OMIM:617061
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Sple...	ORPHA:186
Arachnoiditis	Arthralgia, Fatigue	ORPHA:137817
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Hyperalaninemia, Hypoglycemia, Hypoalbuminemia	OMIM:618329
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Asthenia, Epigastric pain, Myalgia, Intracranial hemorrha...	ORPHA:324636
Addison Disease	Hypotension, Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circu...	ORPHA:85138
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Art...	ORPHA:91139
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Acu...	OMIM:210210
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Pituicytoma	Fatigue	ORPHA:251623
Aromatase Deficiency	Insulin resistance, Type II diabetes mellitus, Hyperlipidemia, Hepatic steatosis	ORPHA:91
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, Splenomegaly, Elevated cir...	OMIM:608779
Acute Panmyelosis With Myelofibrosis	Low back pain, Fatigue, Splenomegaly	ORPHA:86843
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopat...	ORPHA:769
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Hypoglycemia	OMIM:210200
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Increased total bilirubin, Chronic fatigue, Splen...	ORPHA:2137
Isolated Complex I Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus	ORPHA:2609
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Vasculitis, Fatigue, Bone pain	ORPHA:324964
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Recurrent singultus, Hyperglycemia, Hyperglycinemia, Partial atrioventricular canal...	OMIM:620423
Fixed Drug Eruption	Fatigue, Chills	ORPHA:293812
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Pulmonary embolism, Hyperlipidemia, Fatigue, Abdominal pain, Hypertension	ORPHA:567546
Glycogen Storage Disease Ii	Urinary incontinence, Exercise intolerance, Sinus tachycardia, Splenomegaly, Shortened PR interva...	OMIM:232300
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc...	ORPHA:94093
Shashi-Pena Syndrome	Atrial septal defect, Hypoglycemia	OMIM:617190
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H...	ORPHA:565612
Lead Poisoning	Impairment of activities of daily living, Increased LDL cholesterol concentration, Fatigue, Decre...	ORPHA:330015
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Cystic Echinococcosis	Abnormal heart morphology, Hyperbilirubinemia, Epigastric pain, Fatigue, Hepatomegaly	ORPHA:400
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Hypocalcemia	OMIM:606407
Glioblastoma	Fatigue	ORPHA:360
Adiposis Dolorosa	Arthralgia, Telangiectasia of the skin, Fatigue	ORPHA:36397
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl...	ORPHA:263479
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Exercise intolerance, Hypertrophic cardiomyopathy, Chronic pain, Transient ischemic a...	ORPHA:365
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Chronic Beryllium Disease	Fatigue	ORPHA:133
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased total biliru...	ORPHA:3202
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Myalgia, Splenomegaly, Abdominal pain, Syncope, Arthralgia, Fatigue, Hepatomegaly, T...	ORPHA:98849
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Fatigue, Mildly elevated creatine kinase, Bradycardia	OMIM:620351
Castleman Disease	Restrictive cardiomyopathy, Flank pain, Fatigue, Constitutional symptom, Elevated circulating C-r...	ORPHA:160
Familial Aortic Dissection	Cardiomegaly, Chest pain, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia	ORPHA:453533
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia, Patent foramen ovale	OMIM:607143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Exercise intolerance, Fatigue	OMIM:613077
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Abdominal colic, Secondary hyper...	ORPHA:90363
Botulism	Abdominal pain, Arrhythmia, Fatigue	ORPHA:1267
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Muscular ventricular se...	ORPHA:66634
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Mitral valve calcifica...	ORPHA:77261
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Gamma-Heavy Chain Disease	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:100026
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Recurrent hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Fatigue	ORPHA:293978
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Subcutaneous lipoma, Insulinoma, Pancreatic i...	OMIM:131100
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Chest pain, Palpita...	ORPHA:29072
Tyrosinemia, Type I	Hypermethioninemia, Gastrointestinal hemorrhage, Hypoglycemia, Hypertrophic cardiomyopathy, Hypop...	OMIM:276700
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Cardiac diverticulum, Fatigue, Abnormal circulating creatine concent...	ORPHA:440437
Myotonia Fluctuans	Myalgia, Fatigue	ORPHA:99734
Iatrogenic Botulism	Fatigue, Orthostatic hypotension	ORPHA:254509
Poliomyelitis	Hypovolemic shock, Hypotension, Exercise intolerance, Impairment of activities of daily living, M...	ORPHA:2912
X-Linked Agammaglobulinemia	Fatigue, Hypocalcemia	ORPHA:47
Tenorio Syndrome	Hypoinsulinemia, Syncope, Raynaud phenomenon, Hypoglycemia	OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricul...	OMIM:619055
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Hypoglycemia, Elevated circulati...	ORPHA:79282
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Fatigue	ORPHA:98791
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Retinal hemorrhage,...	ORPHA:33226
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Xanthelasma, Abnormal aortic valve mor...	ORPHA:35687
Angiostrongyliasis	Neck pain, Myalgia, Pain, Arthralgia, Fatigue, Abdominal pain	ORPHA:74
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia	OMIM:617093
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Lower limb pain, Mitral regurgitation, Sinus bradycardia, Fatigue	OMIM:261990
Igg4-Related Retroperitoneal Fibrosis	Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Pai...	ORPHA:49041
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Gangrene, Fatigue, Abdominal pain, Bone pain	ORPHA:520
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Kaposi Sarcoma	Fatigue	ORPHA:33276
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage	OMIM:618886
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Alveolar Echinococcosis	Abnormal pericardium morphology, Budd-Chiari syndrome, Asthenia, Epigastric pain, Portal hyperten...	ORPHA:284
Immunodeficiency 70	Chronic fatigue	OMIM:618969
Lymphoid Interstitial Pneumonia	Pulmonary venous hypertension, Fatigue, Raynaud phenomenon, Hepatomegaly, Enlarged kidney	ORPHA:79128
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Hyperbilirubinemia, ...	OMIM:617156
Gitelman Syndrome	Hypotension, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardia, Arthralgia, Fati...	OMIM:263800
Hereditary Fructose Intolerance	Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Abdominal ...	ORPHA:469
Autosomal Agammaglobulinemia	Fatigue	ORPHA:33110
New-Onset Refractory Status Epilepticus	Fatigue	ORPHA:363558
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, De...	ORPHA:110
Marburg Hemorrhagic Fever	Arthralgia, Abdominal pain, Tachycardia, Shock, Elevated circulating creatinine concentration, My...	ORPHA:99826
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Exercise intolerance, Congestive heart failur...	ORPHA:363705
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Primary Hepatic Neuroendocrine Carcinoma	Right ventricular failure, Palpitations, Facial telangiectasia, Chronic fatigue, Night sweats, Ep...	ORPHA:100085
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypopho...	OMIM:229600
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Hughes-Stovin Syndrome	Vasculitis, Pulmonary embolism, Chest pain, Pulmonary arterial hypertension, Fatigue	ORPHA:228116
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Hyperphosphatemia, Shock, Elevated circulatin...	ORPHA:340
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	OMIM:612109
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Fatigue, Hyperchol...	ORPHA:90674
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Chest pain, Cerebral ischemia, Myalgia, Hyper...	ORPHA:900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Elevated circulating creatine k...	ORPHA:308552
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Atypical Juvenile Parkinsonism	Fatigue	ORPHA:391411
Mirage Syndrome	Hyponatremia, Intracranial hemorrhage, Hyperkalemia, Hypoglycemia	OMIM:617053
Leigh Syndrome	Hypoglycemia, Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect, H...	ORPHA:506
Acute Radiation Syndrome	Telangiectasia, Hypotension, Fatigue	ORPHA:454831
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Absence Of The Pulmonary Artery	Exercise intolerance, Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetral...	ORPHA:980
Autoimmune Pulmonary Alveolar Proteinosis	Chest pain, Abnormal circulating protein concentration, Fatigue	ORPHA:747
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Fatigue	ORPHA:257
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Fatigue, Hyperproteinemia, Hypercalc...	ORPHA:29073
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Arteritis, Hypoglycemia	OMIM:233600
Hellp Syndrome	Hypotension, Shoulder pain, Epigastric pain, Fatigue, Internal hemorrhage, Cerebral hemorrhage, A...	ORPHA:244242
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte...	OMIM:208000
Mitochondrial Complex I Deficiency, Nuclear Type 1	Exercise intolerance, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomy...	OMIM:252010
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Autosomal Dominant Dopa-Responsive Dystonia	Fatigue, Hypertension, Transient hyperphenylalaninemia	ORPHA:98808
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Cardiomyopathy	ORPHA:445038
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Brain Dopamine-Serotonin Vesicular Transport Disease	Fatigue	ORPHA:352649
Sotos Syndrome	Muscular ventricular septal defect, Glucose intolerance, Ventricular septal defect, Atrial septal...	OMIM:117550
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hypertrophic cardiomyopathy, Hyperaldosteronism, ...	ORPHA:508
Resistance To Thyrotropin-Releasing Hormone Syndrome	Abnormal circulating thyroglobulin concentration, Fatigue	ORPHA:99832
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia	ORPHA:90790
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Fatigue, Hypercalcemia, Bone pain	OMIM:600740
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Camptodactyly of finger, Loss of facial adipose ti...	ORPHA:3455
Septo-Optic Dysplasia Spectrum	Fatigue, Maternal diabetes	ORPHA:3157
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthralgia, Fatigue, Elevated circulating C-react...	OMIM:620376
Proximal Spinal Muscular Atrophy	Fatigue, Atrial septal defect, Bradycardia	ORPHA:70
Adrenomyeloneuropathy	Impaired continence, Back pain, Fatigue, Abnormal circulating fatty-acid concentration, Urinary i...	ORPHA:139399
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Hyperkalemia, Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglyce...	ORPHA:90791
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin, Fatigue, Abdominal pain	ORPHA:2135
Primary Sclerosing Cholangitis	Hypoalbuminemia, Type I diabetes mellitus, Spider hemangioma, Palmar telangiectasia, Congestive h...	ORPHA:171
Cyclic Neutropenia	Abdominal pain, Fatigue, Bone pain	ORPHA:2686
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Secundum atrial septal defect, Hypoglycemia, Diabetes mellitus	OMIM:609069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Hypoglycemia	OMIM:618005
Renal Nutcracker Syndrome	Flank pain, Syncope, Fatigue, Orthostatic hypotension, Abdominal pain, Tachycardia	ORPHA:71273
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Hypoglycemia	OMIM:620451
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Fatigue, Abnormal myocardium morphology, Abdominal pain, Sudden card...	ORPHA:36426
Sandhoff Disease	Urinary incontinence, Hepatosplenomegaly, Cardiomegaly, Episodic abdominal pain, Orthostatic hypo...	OMIM:268800
Neuroblastoma	Bone pain, Fatigue, Hypertension, Increased circulating ferritin concentration	ORPHA:635
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal d...	ORPHA:2331
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Elevated circulating creatine kinase co...	ORPHA:268
Inhalational Botulism	Fatigue	ORPHA:254504
Hereditary Xanthinuria	Hypouricemia, Chronic fatigue, Flank pain, Hyperxanthinemia	ORPHA:3467
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Asthenia, Myalgia, Gangrene, Fatigue, Retinal hemorrhage, Localized ...	OMIM:608710
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve, Hypoglycemia	OMIM:614501
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Hyperlipidemia	ORPHA:1830
Functioning Gonadotropic Adenoma	Enlarged polycystic ovaries, Fatigue	ORPHA:91348
Alg12-Cdg	Hypoalbuminemia, Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal d...	ORPHA:79324
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Somatostatinoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Steatorrhea, Episodic abdomina...	ORPHA:97283
Wiedemann-Rautenstrauch Syndrome	Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Flexion c...	OMIM:264090
Thyroid Hemiagenesis	Fatigue	ORPHA:95719
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Kabuki Syndrome 2	Atrioventricular canal defect, Neonatal hypoglycemia, Atrial septal defect, Pulmonic stenosis	OMIM:300867
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Exercise intolerance, Hypoglycemia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypergly...	OMIM:124000
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Hypocalcemia, Hypertension, Hyponatremia, Fatigue, Myocarditis, Abdominal pa...	ORPHA:544482
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Fatigue, Hyperphosphatemia	OMIM:617994
Zygomycosis	Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Chest pain, Pain, Fatigue, Hematemesis, Mel...	ORPHA:73263
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Epis...	ORPHA:100078
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Bone pain,...	ORPHA:3337
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Hypertrophic cardiomyopathy, Patent foramen ovale, Hepatomegaly, Methylmalonic acid...	ORPHA:17
Tick-Borne Encephalitis	Limb pain, Myalgia, Arthralgia, Abnormal myocardium morphology, Fatigue, Elevated circulating C-r...	ORPHA:297
Bone Marrow Failure Syndrome 6	Chronic fatigue, Myalgia	OMIM:618849
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Abdominal pain, Chronic fatigue, Diabetes mellitus, Back pain	ORPHA:1333
Oculodentodigital Dysplasia	Arrhythmia, Hypoglycemia, Ventricular septal defect	ORPHA:2710
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Fatigue, Abnormal myocardium morphology, Abdominal pain, Sudden card...	ORPHA:537
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun...	ORPHA:3427
Kufor-Rakeb Syndrome	Fatigue	OMIM:606693
Listeriosis	Arteritis, Congestive heart failure, Myalgia, Back pain, Arthralgia, Fatigue, Myocarditis, Abdomi...	ORPHA:533
Acute Monoblastic/Monocytic Leukemia	Fatigue	ORPHA:514
Amyotrophic Lateral Sclerosis	Fatigue, Pain	ORPHA:803
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Bradycardia	ORPHA:565624
Carney Triad	Gastrointestinal hemorrhage, Arrhythmia, Abdominal pain, Fatigue, Tachycardia, Hypertension	ORPHA:139411
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus	OMIM:241080
Holoprosencephaly	Hypoglycemia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Ventricular septal defect...	ORPHA:2162
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Cardiom...	OMIM:105210
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Fatigue, Abdominal pain	ORPHA:79430
Thyroid Hypoplasia	Fatigue	ORPHA:95720
Silver-Russell Syndrome	Insulin resistance, Arthralgia, Recurrent hypoglycemia	ORPHA:813
Japanese Encephalitis	Myalgia, Hyponatremia, Rigors, Fatigue, Abdominal pain, Chills	ORPHA:79139
Immunodeficiency 31C	Hepatomegaly, Fatigue, Diabetes mellitus, Splenomegaly	OMIM:614162
Gaucher Disease	Aortic valve calcification, Increased circulating ferritin concentration, Abnormal pericardium mo...	ORPHA:355
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir...	ORPHA:14
Sickle Cell Disease	Splenomegaly, Cardiomegaly, Hepatomegaly, Abdominal pain, Hypertension	OMIM:603903
Cerebral Visual Impairment	Intracranial hemorrhage, Neonatal hypoglycemia, Ischemic stroke	ORPHA:447788
Brucellosis	Arteritis, Asthenia, Transient ischemic attack, Splenomegaly, Abnormal aortic valve morphology, A...	ORPHA:1304
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Fatigue, Back pain	OMIM:619234
Congenital Syphilis	Myocarditis, Hepatosplenomegaly, Hypoglycemia	ORPHA:499009
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Hypoglycemia	OMIM:616007
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Cardiomyopathy	ORPHA:572798
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating copper concentration, Tricuspid regurgitation, Abnormal circul...	OMIM:620306
Intellectual Developmental Disorder, X-Linked 112	Abnormal heart morphology, Bicuspid aortic valve, Fatigue, Pain	OMIM:301111
Macs Syndrome	Fatigue	OMIM:613075
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Glutaryl-Coa Dehydrogenase Deficiency	Retinal hemorrhage, Exercise intolerance, Subdural hemorrhage, Fasting hypoglycemia	ORPHA:25
Kikuchi-Fujimoto Disease	Vasculitis, Myalgia, Splenomegaly, Night sweats, Myocarditis, Arthralgia, Fatigue, Elevated circu...	ORPHA:50918
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Fatigue	OMIM:617186
Bannayan-Riley-Ruvalcaba Syndrome	Telangiectasia, Angina pectoris, Intracranial hemorrhage, Hypoglycemia	ORPHA:109
Glucagonoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Steatorrhea, Episodic abdomina...	ORPHA:97280
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Chest pain, Increased pulmonary vascular resistance, Mitral valve calc...	ORPHA:60025
Steinert Myotonic Dystrophy	Insulin resistance, Prolonged PR interval, Dilated cardiomyopathy, Hyperinsulinemia, Left ventric...	ORPHA:273
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Vipoma	Increased circulating cortisol level, Hypokalemia, Episodic abdominal pain, Hepatomegaly, Chronic...	ORPHA:97282
Neurooculorenal Syndrome	Recurrent hypoglycemia, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral...	OMIM:620305
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Neonatal hypoglycemia, Enlarg...	OMIM:130650
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Recurrent hypoglycemia	OMIM:256810
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Abdominal pain, Fatigue	ORPHA:309031
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy	ORPHA:158687
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Congestive heart failure	OMIM:616271
Woodhouse-Sakati Syndrome	Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus	ORPHA:3464
Nocardiosis	Abnormal heart valve morphology, Chest pain, Night sweats, Fatigue, Chills, Ocular pain, Endocard...	ORPHA:31204
Menkes Disease	Gastrointestinal hemorrhage, Fatigue, Intracranial hemorrhage, Hypoglycemia	ORPHA:565
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Mitral regurgitation, H...	OMIM:220111
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve p...	OMIM:602782
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Non-Functioning Pituitary Adenoma	Hypotension, Fatigue	ORPHA:91349
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegal...	ORPHA:116
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Hyperglycemia, Hyperlipidemia, Cyanosis,...	ORPHA:293987
Wiskott-Aldrich Syndrome	Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Chest pain, Arrhythmia,...	ORPHA:906
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H...	ORPHA:168558
Dermatomyositis	Vasculitis, Sinus tachycardia, Myalgia, Elevated circulating creatine kinase concentration, Gangr...	ORPHA:221
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo...	ORPHA:466650
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H...	ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Hypoglycemia	OMIM:301066
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Episodic abdominal pain, Hypophosphatemia, Fatigue, Hypercalcemia, Mandibu...	ORPHA:99880
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chest pain, Fatigue, Abdominal pain, Chylopericardium	ORPHA:538
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Myalgia, Arthralgia, Diabetes mellitus, Fatigue	ORPHA:183675
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Hypokalemia, Fatigue...	ORPHA:91347
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Episodic abdominal pain, Fatigue, Hypocalcemic seizures,...	ORPHA:405
Parathyroid Carcinoma	Shortened QT interval, Episodic abdominal pain, Hypophosphatemia, Fatigue, Hypercalcemia, Mandibu...	ORPHA:143
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Abnormal heart morphology, Fasting hypoglycemia, Insulin resistance	ORPHA:96182
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Exercise intolerance, Hypoglycemia, Portal hypertension, Hypocalcemia, Unconjuga...	OMIM:613658
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Hypoglycemia, Bundle branch block, Splenomegaly, Ventricular septal defect, Prolo...	ORPHA:373
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Chest pain, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicus...	ORPHA:91387
Coccidioidomycosis	Vasculitis, Vasospasm, Chest pain, Myalgia, Cerebral ischemia, Fatigue, Pericarditis	ORPHA:228123
Perlman Syndrome	Visceromegaly, Hypoglycemia	OMIM:267000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Fatigue, Hypoglycemia, Bradycardia	ORPHA:226307
African Trypanosomiasis	Urinary incontinence, Second degree atrioventricular block, Third degree atrioventricular block, ...	ORPHA:3385
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Costello Syndrome	Hypoglycemia, Sudden death, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septa...	OMIM:218040
Alström Syndrome	Insulin resistance, Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase ...	ORPHA:64
Aregenerative Anemia	Fatigue	ORPHA:101096
Prolactinoma	Hypotension, Fatigue	ORPHA:2965
Acute Transverse Myelitis	Subarachnoid hemorrhage, Fatigue, Orthostatic hypotension, Urinary incontinence, Decreased circul...	ORPHA:139417
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Non-Acquired Panhypopituitarism	Hypotension, Fatigue, Hypoglycemia	ORPHA:90695
Igg4-Related Kidney Disease	Arteritis, Decreased retinol-binding protein level, Elevated circulating creatinine concentration...	ORPHA:449395
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Plague	Hypotension, Chest pain, Splenomegaly, Arrhythmia, Arthralgia, Hematemesis, Abdominal pain, Fatig...	ORPHA:707
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Fatigue	ORPHA:44890
Chikungunya	Epistaxis, Shoulder pain, Myalgia, Arthralgia, Fatigue, Raynaud phenomenon, Knee pain, Chills	ORPHA:324625
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Hyperbilirubinemia, Ventricular septal defect, Bi...	OMIM:619475
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Arthralgia, Hyperbilirubinemia, Fatigue	ORPHA:562639
Acromegaly	Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Arthralgia, Fatigue, Diabetes me...	ORPHA:963
Somatomammotropinoma	Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Arthralgia, Fatigue, Diabetes me...	ORPHA:314769
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Xeroderma Pigmentosum	Telangiectasia, Conjunctival telangiectasia, Arthralgia, Telangiectasia of the skin, Fatigue	ORPHA:910
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly	OMIM:608013
Lynch Syndrome	Abdominal pain, Gastrointestinal hemorrhage, Fatigue, Cardiac diverticulum	ORPHA:144
Osteogenesis Imperfecta	Aortic regurgitation, Exercise intolerance, Trigeminal neuralgia, Mitral valve prolapse, Arthralg...	ORPHA:666
Congenital Fiber-Type Disproportion Myopathy	Cor pulmonale, Fatigue, Abnormal heart morphology	ORPHA:2020
Immunodeficiency 58	Fatigue	OMIM:618131
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Congestive heart failure, Hypertrophic...	OMIM:252500
Myasthenic Syndrome, Congenital, 21, Presynaptic	Exercise intolerance, Fatigue	OMIM:617239
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Fatigue	ORPHA:466768
Deeah Syndrome	Hepatomegaly, Neonatal hypoglycemia, Decreased heart rate variability	OMIM:619004
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal aortic...	ORPHA:581
Tetrasomy 9P	Patent foramen ovale, Abnormal mitral valve morphology, Pulmonary arterial hypertension, Fatigue,...	ORPHA:3310
Classical Ehlers-Danlos Syndrome	Arterial rupture, Limb pain, Mitral regurgitation, Mitral valve prolapse, Abnormal heart valve ph...	ORPHA:287
Acute Liver Failure	Hypotension, Gastrointestinal hemorrhage, Hypoglycemia, Shock, Hyperammonemia, Intracranial hemor...	ORPHA:90062
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Hyperbilirubine...	OMIM:300855
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Transient ischemic attack, Bicuspid aortic valve, Arthralgia, Chronic fa...	OMIM:619656
Malt Lymphoma	Abdominal pain, Fatigue	ORPHA:52417
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Primary Sjögren Syndrome	Vasculitis, Arteritis, Chronic pain, Myalgia, Arthralgia, Fatigue, Raynaud phenomenon	ORPHA:289390
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Myalgia, Mitral regurgitation, Mitral valve prola...	ORPHA:558
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Myalgia, Vitreous hemorrhage, Flank pain, Arthralg...	ORPHA:91500
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension, Fatigue, Hypoglycemia	ORPHA:95494
Lymphatic Filariasis	Fatigue, Pain	ORPHA:2035
Parkinson Disease 20, Early-Onset	Fatigue	OMIM:615530
Selective Igm Deficiency	Chronic fatigue, Raynaud phenomenon	ORPHA:331235
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa...	OMIM:619991
Sarcoidosis	Chest pain, Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular t...	ORPHA:797
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Episodic abdominal pain	ORPHA:100086
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbiliru...	OMIM:618278
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:230000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Hyperkalemia, Shock, Hyponatremia, Decreased circulating cortisol level, Neonatal hy...	ORPHA:90794
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Cerebral hemorr...	OMIM:620371
Hypermobile Ehlers-Danlos Syndrome	Epistaxis, Chronic pain, Myalgia, Mitral valve prolapse, Arrhythmia, Arthralgia, Fatigue, Raynaud...	ORPHA:285
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Abnormal heart morphology, Mitral regurgitation, Left ventricular hypertrop...	ORPHA:284984
Systemic Lupus Erythematosus	Malaise, Fatigue, Hypertension, Raynaud phenomenon	ORPHA:536
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol lev...	OMIM:201750
Holoprosencephaly 1	Hypoglycemia, Single ventricle	OMIM:236100
Thyroid Ectopia	Fatigue	ORPHA:95712
Goodpasture Syndrome	Chest pain, Pulmonary hemorrhage, Fatigue, Increased blood urea nitrogen, Chills	OMIM:233450
Kufor-Rakeb Syndrome	Urinary incontinence, Fatigue, Bowel incontinence	ORPHA:306674
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon, Diabetes mellitus	ORPHA:51
Williams Syndrome	Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect...	ORPHA:904
Adenocarcinoma Of The Anal Canal	Chronic fatigue, Intestinal bleeding, Abdominal pain	ORPHA:424016
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Sudden death, Mitral regurgitation, Mitral valve p...	OMIM:613795
Juvenile Polyposis Syndrome	Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Chronic fatigue,...	ORPHA:2929
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Bradycardia	OMIM:617248
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Fatigue, Type II diabetes mellitus	OMIM:613406
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Loeys-Dietz Syndrome 1	Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Chronic fatigue, Bicuspid pul...	OMIM:609192
Igg4-Related Dacryoadenitis And Sialadenitis	Fatigue	ORPHA:79078
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina...	ORPHA:51608
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Myalgia, Fatigue, Vulvodynia	ORPHA:95455
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ...	ORPHA:3472
Sotos Syndrome	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Neonatal hypoglycemia...	ORPHA:821
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral...	OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fabp3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fabp3.

No publications found that use IMPC mice or data for Fabp3.

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MGI Allele	Allele Type	Produced
Fabp3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Fabp3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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