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Gene: Fabp3 MGI:95476

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fabp3 mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 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
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract OMIM:618881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hyperinsulinism Due To Insr Deficiency
Fatigue, Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-pepti... ORPHA:263458
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Congenital Glucokinase-Related Hyperinsulinism
Fatigue, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypogl... ORPHA:79299
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 47
Microcornea, Cataract OMIM:612018
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Sudden death, Hypoglycemia, Hepatomegaly OMIM:609016
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
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
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:79085
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Dermoids Of Cornea
Corneal opacity OMIM:304730
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr... OMIM:615238
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Ethanolaminosis
Cardiomegaly OMIM:227150
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Macrophagic Myofasciitis
Fatigue, Arthralgia, Myalgia ORPHA:592
Nathalie Syndrome
Cataract OMIM:255990
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia OMIM:617885
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... ORPHA:79159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypoproteinemia, Ventricular septal defect, Ele... ORPHA:26793
Pontiac Fever
Fatigue, Myalgia ORPHA:99748
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Atrial septal defect, Hype... OMIM:620211
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri... OMIM:606069
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... ORPHA:2348
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear 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
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Dysequilibrium Syndrome
Cataract ORPHA:1766
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abdominal pain ORPHA:314811
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, ... ORPHA:156
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Congestive heart failure, B... OMIM:619048
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:232400
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Syncope, Chest pain, P... ORPHA:334
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulin... ORPHA:276608
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Endocardial Fibroelastosis
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
X-Linked Sideroblastic Anemia
Fatigue, Splenomegaly, Abnormality of iron homeostasis, Glucose intolerance ORPHA:75563
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, P... ORPHA:276580
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu... ORPHA:2088
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Retinitis Pigmentosa 40
Cataract OMIM:613801
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Aniridia 3
Aniridia, Cataract OMIM:617142
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Maturity-onset diabetes of the y... OMIM:616222
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Pellagra-Like Syndrome
Cataract OMIM:260650
Tuberculosis
Fatigue ORPHA:3389
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... OMIM:278000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Congenital Isolated Acth Deficiency
Fatigue, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures,... ORPHA:199296
Cataract 24
Anterior polar cataract OMIM:601202
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Pulmonary Hypertension, Primary, 5
Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Ri... OMIM:265400
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Analbuminemia
Fatigue, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration,... OMIM:616000
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Atrial Standstill
Fatigue, Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive... ORPHA:1344
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Congestive heart failure, Increased serum pyruvate, Abdominal pain OMIM:616794
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiome... ORPHA:42
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue OMIM:619477
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Exercise intolerance, Elevated circulating creatine kinase... ORPHA:228305
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Adiposis Dolorosa
Fatigue, Arthralgia, Chronic pain OMIM:103200
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... OMIM:617253
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, H... OMIM:614702
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Increased serum pyruvate, Congestive heart failure, Dilated cardio... ORPHA:1349
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Isolated Right Ventricular Hypoplasia
Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure... ORPHA:439
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Cataract 48
Cataract OMIM:618415
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Chronic fatigue, Splenomegaly, Bone pain, Hypocholesterolemia OMIM:610539
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:66628
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Exercise intolerance, Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated c... OMIM:618120
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating selenium concentration ORPHA:171706
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia OMIM:246900
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Cholangiocarcinoma
Fatigue, Abdominal pain ORPHA:70567
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:179494
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Ketotic hypoglycemia ORPHA:26792
Glucocorticoid Resistance, Generalized
Fatigue, Hypertension, Increased circulating cortisol level, Hypoglycemia OMIM:615962
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:608594
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fatigue, Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concentration, Hyperinsulinem... ORPHA:263455
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:412
Takayasu Arteritis
Abnormal endocardium morphology, Fatigue, Gangrene, Abnormal heart valve morphology, Myocardial i... ORPHA:3287
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Hypoglycemia, Elevated circulating branched ... ORPHA:2394
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Mucolipidosis Type Iii
Abnormal heart valve morphology, Fatigue, Abnormal aortic valve morphology ORPHA:577
Congenital Varicella Syndrome
Cataract ORPHA:291
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Congenital Heart Block
Fatigue, Exercise intolerance, First degree atrioventricular block, Gallop rhythm, Pericardial ef... ORPHA:60041
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia OMIM:614741
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Fatigue ORPHA:86893
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Fatigue, Elevated circulating creatine kinase concentration, Heart murmur, ... OMIM:615418
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi... OMIM:619386
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Abnormal heart morphology ORPHA:231147
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating creatin... OMIM:212138
Epiphyseal Dysplasia, Multiple, 2
Fatigue, Knee pain, Foot pain OMIM:600204
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive h... ORPHA:1880
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia ORPHA:67048
Liddle Syndrome
Fatigue, Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia ORPHA:526
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Congenital Gerbode Defect
Fatigue, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricula... ORPHA:99095
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Hemochromatosis, Type 3
Fatigue, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyo... OMIM:604250
Hepatitis, Fulminant Viral, Susceptibility To
Type I diabetes mellitus, Hepatomegaly, Fatigue OMIM:618549
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ... OMIM:212140
Schnitzler Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Vasculitis, Bone pain, Arthralgia, Myalgia ORPHA:37748
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Increased circulating ferritin concentration, Abnormal serum iron concentration, Arthral... ORPHA:254704
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue OMIM:616326
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Hypoglycemia, Increased circulating NT-proBNP concentration, Cerebral he... OMIM:620300
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Pfapa Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Splenomegaly, Arthralgia ORPHA:42642
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... OMIM:617872
Pediatric Hepatocellular Carcinoma
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Epig... ORPHA:33402
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Retinitis Pigmentosa 9
Cataract OMIM:180104
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Corticosteroid-Binding Globulin Deficiency
Fatigue, Decreased circulating cortisol level, Hypertension, Hypokalemia, Asthenia, Hypotension OMIM:611489
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hepatomegaly, Diabetes mellitus, Portal hypertension, Cardiomegaly, Abdominal pain, Cong... ORPHA:465508
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Splenomegaly, Congestive heart failure, Increased total bilirubin ORPHA:90037
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia OMIM:266150
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Epistaxis, Cardiac arrest, Abdominal pain, Sp... ORPHA:99745
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:203800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Insulinoma
Nonketotic hypoglycemia, Fatigue, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinem... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 36
Exercise intolerance, Hyperalaninemia, Hypoglycemia, Myalgia OMIM:617950
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... OMIM:201475
Undifferentiated Pleomorphic Sarcoma
Fatigue ORPHA:2023
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Post... ORPHA:3092
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Autoinflammation With Infantile Enterocolitis
Fatigue, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Sple... OMIM:616050
Babesiosis
Fatigue, Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Arthralgia,... ORPHA:108
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Postexe... ORPHA:57777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Elevated circulating creatine kinase concentration OMIM:253601
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Cahmr Syndrome
Lamellar cataract OMIM:211770
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Abdominal pain OMIM:248360
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue, Hypertension, Increased circulating cortisol level, Hyperglycemia OMIM:615954
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Impaired continence, Hypoglycemia, Methylmalonic acidemia ORPHA:289504
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Exercise intolerance, Tachycardia, Elevated circulating creatine kinase concentration, E... ORPHA:368
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Fatigue ORPHA:66661
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Hyperammonemia, Abdominal pain OMIM:620137
Follicular Lymphoma
Fatigue, Splenomegaly, Night sweats ORPHA:545
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Abnormal atrioventricular condu... ORPHA:732
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Sengers Syndrome
Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertens... OMIM:212350
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Hepatomegaly, Exercise intolerance, Cardiac arrest, Elevated circulating creatine kinase... OMIM:617713
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Hypoglycemia, Hyperammonemia OMIM:616483
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Erythrocytosis, Familial, 1
Fatigue, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Hypertension OMIM:133100
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia OMIM:619313
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Glycogen Storage Disease Ixd
Exercise intolerance, Exercise-induced myalgia, Hypoglycemia, Elevated circulating creatine kinas... OMIM:300559
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Mitochondrial Myopathy With Lactic Acidosis
Fatigue, Increased serum pyruvate OMIM:251950
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Abdominal pain, Congestive heart failure, Splenome... OMIM:235200
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hepatosplenomegaly, Hernia, Camptodactyly ORPHA:168569
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Fatigue, Mitral valve prolapse, Arthralgia, Myalgia, Arrhythmia ORPHA:230839
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise intolerance, Abnormal heart morphology, Exercise-induced myalgia, Myalgia, Palp... OMIM:618250
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic fatigue ORPHA:100083
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnorm... OMIM:241150
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He... OMIM:248370
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine... OMIM:618839
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Diabetes mellitus, Cardiomyopathy, Myalgia, Bradycardia, Arrhythmia OMIM:609286
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula... OMIM:618835
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Adult-Onset Still Disease
Fatigue, Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Abdom... ORPHA:829
Rheumatic Fever
Fatigue, Pericarditis, Abnormal heart valve morphology, Epistaxis, Abdominal pain, Myocarditis, E... ORPHA:3099
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Dubin-Johnson Syndrome
Fatigue, Hepatomegaly, Conjugated hyperbilirubinemia, Abdominal pain ORPHA:234
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Fatigue, Asthenia OMIM:618107
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Insulin-Resistance Syndrome Type B
Fatigue, Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries,... ORPHA:2298
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Increased circulating cortisol level, Recurrent hypo... ORPHA:79644
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyperalaninemia, Neonata... OMIM:619046
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Cardiomyopathy, Diabetes mellitus ORPHA:1215
Congenital Disorder Of Glycosylation, Type It
Fatigue, Hepatomegaly, Tachycardia, Exercise intolerance, Ventricular septal defect, Hypoglycemia... OMIM:614921
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... ORPHA:79096
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Solitary Fibrous Tumor
Fatigue, Low back pain, Hypoglycemia, Reduced C-peptide level, Night sweats, Recurrent hypoglycem... ORPHA:2126
Retinitis Pigmentosa 84
Cataract OMIM:618220
Carnitine Palmitoyltransferase Ii Deficiency
Exercise intolerance, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... ORPHA:157
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemi... ORPHA:230
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concent... ORPHA:159
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Sudden cardiac death, Elevated ... ORPHA:99901
Cold Agglutinin Disease
Fatigue, Hepatomegaly, Back pain, Splenomegaly, Arthralgia ORPHA:56425
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Non-Functioning Paraganglioma
Fatigue, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, C... ORPHA:94080
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue, Splenomegaly ORPHA:231401
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Chronic fatigue OMIM:234810
Mehmo Syndrome
Hypoglycemia OMIM:300148
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia... ORPHA:927
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Portal Hypertension, Noncirrhotic, 2
Fatigue, Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly OMIM:619463
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Elevated circulating C-reactive protein concentration, Arthralgia, Myalgia, Chills OMIM:120100
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia OMIM:618958
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly ORPHA:391428
Stickler Syndrome, Type V
Cataract OMIM:614284
Idiopathic Pulmonary Hemosiderosis
Fatigue, Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Classic Hodgkin Lymphoma
Fatigue, Hepatomegaly, Splenomegaly, Bone pain, Chest pain ORPHA:391
Leishmaniasis
Fatigue, Hepatomegaly, Splenomegaly, Night sweats, Arthralgia, Hypoalbuminemia ORPHA:507
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:619802
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608836
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice, Fasting hypoglycemia OMIM:201400
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise intolerance, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentrat... ORPHA:26791
Post-Traumatic Pituitary Deficiency
Fatigue, Hypoglycemia, Hypotension ORPHA:95619
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ... OMIM:619051
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Mitochondrial Complex I Deficiency, Nuclear Type 20
Exercise intolerance, Hypoglycemia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophi... OMIM:611126
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... ORPHA:98908
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen... ORPHA:77293
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Hyponatremia, Myocardial infarc... ORPHA:3452
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis OMIM:307030
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... OMIM:251000
Relapsing Fever
Fatigue, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Abdominal... ORPHA:91547
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... ORPHA:86816
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Fatigue, Left-to-right shunt, Abnormally loud pulmo... ORPHA:99104
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... ORPHA:228308
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Achromatopsia 3
Cataract OMIM:262300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:536532
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperproteinemia, Increased circulating re... ORPHA:90041
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hepatocellular adenoma, Hypogly... ORPHA:79259
Nipah Virus Disease
Fatigue, Myalgia, Hypotension ORPHA:99825
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Elevated circulating creatine kinase concentration OMIM:613157
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Systemic Capillary Leak Syndrome
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Myalgia, Hypotension, Constitutional symptom,... ORPHA:188
Alexander Disease
Fatigue OMIM:203450
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Laubry-Pezzi Syndrome
Aortic regurgitation, Fatigue, Aortic valve prolapse, Mildly reduced left ventricular ejection fr... ORPHA:99094
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Familial Cold Urticaria
Fatigue, Arthralgia, Myalgia, Abdominal pain ORPHA:47045
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglycinemia OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension OMIM:619064
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Ne... ORPHA:348
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Legionnaires Disease
Fatigue, Hyponatremia, Pericarditis, Abdominal pain, Splenomegaly, Myocarditis, Endocarditis, Art... ORPHA:549
Spontaneous Periodic Hypothermia
Fatigue, Arrhythmia ORPHA:29822
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Angina pectoris, Epistaxis, Portal hypertensi... ORPHA:729
Spinal Arteriovenous Metameric Syndrome
Fatigue, Congestive heart failure, Bone pain, Arthralgia, Gangrene ORPHA:53721
Thyroid Hemiagenesis
Fatigue ORPHA:95719
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Fasting hyp... OMIM:232200
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Hypoglycemia OMIM:614736
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Rigors, Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, ... ORPHA:746
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Tachycardia, Splenomegaly, Congestive heart failure, Arthralgia ORPHA:90033
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Diabetes mellitus, Type II diabetes mellitus OMIM:274300
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Chronic fatigue, Ketotic hypoglycemia, Hyperk... ORPHA:361
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Fatigue, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myalgia OMIM:619259
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Exercise intolerance, Elevated circulating c... OMIM:300257
Unclassified Myelodysplastic Syndrome
Fatigue, Night sweats ORPHA:98827
Becker Muscular Dystrophy
Exercise intolerance, Fatigue, Myalgia, Elevated circulating creatine kinase concentration ORPHA:98895
Athyreosis
Fatigue ORPHA:95713
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue ORPHA:589905
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:256040
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Overhydrated Hereditary Stomatocytosis
Fatigue, Hepatomegaly, Pulmonary embolism, Splenomegaly, Hyperbilirubinemia OMIM:185000
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Houge-Janssens Syndrome 1
Fatigue, Hypoglycemia OMIM:616355
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Fatigue, Increased circulating NT-proBNP... ORPHA:85443
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Primary Familial Polycythemia
Fatigue, Arthralgia, Epistaxis, Abdominal pain ORPHA:90042
Late-Onset Isolated Acth Deficiency
Fatigue, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemi... ORPHA:199299
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Fatigue OMIM:619719
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly OMIM:269920
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:614739
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... ORPHA:470
Acute Interstitial Pneumonia
Fatigue, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated ci... ORPHA:79126
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Arthralgia, Increased total bilirubin ORPHA:90036
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Abdominal pain, Bone pain, Hepatosplen... ORPHA:98850
Barth Syndrome
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... OMIM:302060
Acquired Methemoglobinemia
Fatigue, Tachycardia, Abdominal pain, Syncope, Palpitations, Arrhythmia ORPHA:464453
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart... OMIM:261740
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia OMIM:246450
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Postpoliomyelitis Syndrome
Fatigue, Pain, Arthralgia, Myalgia ORPHA:2942
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue OMIM:618049
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Creatine Phosphokinase, Elevated Serum
Fatigue, Myalgia, Elevated circulating creatine kinase concentration OMIM:123320
Papa Syndrome
Type I diabetes mellitus, Fatigue, Arthralgia ORPHA:69126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak,... ORPHA:542323
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Hyponatremia, Hypoglycemia OMIM:608688
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Primary Myelofibrosis
Fatigue, Hepatomegaly, Portal hypertension, Splenomegaly, Flank pain, Hepatosplenomegaly, Constit... ORPHA:824
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hypertension, Body odor, Hyperuricemia, Hypotension, ... ORPHA:134
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Fatigue, Angina pectoris, Telangi... ORPHA:93672
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Elevated circul... OMIM:616878
Refractory Anemia
Fatigue, Abnormal cardiac ventricular function ORPHA:98826
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Arthralgia, Fatigue, Ab... ORPHA:324
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue, Elevated circulating creatine kinase concentration ORPHA:209335
Mal De Débarquement
Fatigue ORPHA:210272
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Fatigue, Abdominal pain ORPHA:2930
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Acute Adrenal Insufficiency
Fatigue, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemi... ORPHA:95409
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue ORPHA:171612
Rheumatoid Arthritis
Fatigue, Vasculitis, Arthralgia, Elevated circulating C-reactive protein concentration OMIM:180300
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Fatigue, Telangiectasia of the skin, Abnormal pericardium morphology... ORPHA:679
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mor... ORPHA:183
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hyperglycinemia, Hypertaurinemia OMIM:245400
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Hepatomegaly, Fatigue, Splenomegaly ORPHA:3226
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue, Elevated circulating C-reactive protein concentration OMIM:191900
Cinca Syndrome
Fatigue, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Arthr... ORPHA:1451
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Hypoglycemia OMIM:617710
Lyme Disease
Fatigue, Atrioventricular block, Arthralgia, Myalgia, Arrhythmia ORPHA:91546
Evans Syndrome
Fatigue, Syncope, Epistaxis ORPHA:1959
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia OMIM:229700
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Arthralgia, Abdominal pain OMIM:615399
Cryptogenic Organizing Pneumonia
Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Arthralgia, Chest pain ORPHA:1302
Hyperprolinemia Type 2
Exercise intolerance, Chronic fatigue, Abdominal pain, Hyperprolinemia, Myalgia, Hyperglycinemia,... ORPHA:79101
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Postorgasmic Illness Syndrome
Fatigue, Hypertension, Palpitations ORPHA:279947
Cystinosis
Fatigue, Portal hypertension, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Chronic fatigue, Myalgia ORPHA:254875
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills, Hepatosplenomegaly ORPHA:86884
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemi... OMIM:232220
Pituitary Apoplexy
Fatigue, Hyponatremia, Hypoglycemia, Trigeminal neuralgia, Hypertension, Increased circulating co... ORPHA:95613
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Myofibrillar Myopathy 11
Fatigue OMIM:619178
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia OMIM:201450
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Fatigue, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal he... ORPHA:230851
Classic Galactosemia
Hepatomegaly, Hypoglycemia ORPHA:79239
Refractory Anemia With Excess Blasts
Fatigue, Abnormal circulating protein concentration, Abnormal circulating albumin concentration, ... ORPHA:86839
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Fatigue, Cardiac arrest, Dilated cardiomyopathy, Hyperammo... ORPHA:20
Reynolds Syndrome
Fatigue, Hepatomegaly, Telangiectasia of the skin, Myalgia, Mucosal telangiectasiae ORPHA:779
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain, Hypocalcemia, Hypophosphatemia ORPHA:89937
Atypical Werner Syndrome
Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fastin... ORPHA:79474
Eosinophilic Fasciitis
Fatigue, Arthralgia, Myalgia ORPHA:3165
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue, Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, ... ORPHA:300298
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abdominal pain, Abnormal blood ion concentration, Hypovo... ORPHA:173
Liposarcoma
Fatigue, Abdominal pain ORPHA:69078
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Myocarditis, Splenomegaly, Arth... ORPHA:809
Maple Syrup Urine Disease
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Elevated circulating ... OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia OMIM:618253
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:167
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, C... ORPHA:276621
Shigellosis
Fatigue, Hyponatremia, Hypoglycemia, Abdominal pain, Myocarditis, Abnormal blood ion concentratio... ORPHA:810
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... OMIM:617049
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra... ORPHA:480864
Giant Cell Arteritis
Fatigue, Pericarditis, Gangrene, Epistaxis, Sudden cardiac death, Abdominal pain, Vasculitis, Art... ORPHA:397
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... OMIM:251880
Congenital Dyserythropoietic Anemia Type Iii
Fatigue, Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis OMIM:617600
Satoyoshi Syndrome
Fatigue, Mildly elevated creatine kinase OMIM:600705
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Klatskin Tumor
Fatigue, Hepatomegaly, Abdominal pain ORPHA:99978
Thymic Carcinoma
Fatigue, Chest pain ORPHA:99868
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Generalized Pustular Psoriasis
Fatigue, Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart fa... ORPHA:247353
Avian Influenza
Fatigue, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive prot... ORPHA:454836
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
Isolated Agammaglobulinemia
Fatigue ORPHA:229717
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Chronic Thromboembolic Pulmonary Hypertension
Fatigue, Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular ... ORPHA:70591
Vexas Syndrome
Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Arthralgia, Arteritis OMIM:301054
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Elevated circulating glutaric acid concentration OMIM:231670
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Chronic Myeloid Leukemia
Fatigue, Splenomegaly ORPHA:521
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Chroni... ORPHA:91355
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Fatigue, Cerebral hemorrhage OMIM:263400
Autosomal Dominant Optic Atrophy, Classic Form
Fatigue, Diabetes mellitus, Myalgia ORPHA:98673
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:607426
Herpes Simplex Virus Encephalitis
Fatigue, Chills, Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Atrial fibrillation, Diabetes mellitus, Elevated circulating creat... ORPHA:254892
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Hyperur... OMIM:232240
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Generalized Glucocorticoid Resistance Syndrome
Fatigue, Hypoglycemia, Hypertension, Increased circulating cortisol level, Hypokalemia ORPHA:786
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Abdominal pain ORPHA:65682
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, Abnormal heart morphology, Atrial... ORPHA:457279
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Myocardial infarction, Abdominal pain, Raynau... ORPHA:91139
Q Fever
Fatigue, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myoca... ORPHA:781
Arachnoiditis
Fatigue, Arthralgia ORPHA:137817
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Pituicytoma
Fatigue ORPHA:251623
Addison Disease
Fatigue, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemi... ORPHA:85138
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Fatigue, Ventricular septal defect OMIM:617061
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... ORPHA:769
Acute Panmyelosis With Myelofibrosis
Fatigue, Splenomegaly, Low back pain ORPHA:86843
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating glutaric acid concentration, Glycosuria OMIM:231680
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Exercise intolerance, Increas... OMIM:232300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Vasculitis, Bone pain, Elevated circulating C-reactive protein concentration ORPHA:324964
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoalbuminemia OMIM:618329
Inhalational Anthrax
Fatigue, Internal hemorrhage, Hypotension ORPHA:247257
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Secundum atrial s... OMIM:608779
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Intracranial hemorrhage, Arthralgia, Asthenia, M... ORPHA:324636
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hypera... ORPHA:3008
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemi... OMIM:227810
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Hepatomegaly, Exercise intolerance, Transient ischemic attack, Elevated circulating crea... ORPHA:365
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia OMIM:619075
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hypoglycemia, Bradycardia OMIM:220120
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Adiposis Dolorosa
Fatigue, Arthralgia, Telangiectasia of the skin ORPHA:36397
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Chronic fatigue, Spider hemangioma, Abdominal pain, Splenomegaly, Ar... ORPHA:2137
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic fatigue, Elevated circulating alpha-fetoprotein concentration, Right ventri... ORPHA:100085
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Abdominal pain, Splenomegaly, Increased circulating ferritin concent... ORPHA:3202
Shashi-Pena Syndrome
Atrial septal defect, Hypoglycemia OMIM:617190
Neuroleptic Malignant Syndrome
Fatigue, Rigors, Tachycardia, Hyponatremia, Urinary incontinence, Elevated circulating creatine k... ORPHA:94093
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia OMIM:210200
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis ORPHA:254346
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fatigue, Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Bone pain, Syncope, Arthralgia,... ORPHA:98849
Lead Poisoning
Fatigue, Decreased HDL cholesterol concentration, Abdominal pain, Increased LDL cholesterol conce... ORPHA:330015
Poems Syndrome
Fatigue, Pain, Diabetes mellitus, Pericardial effusion, Pulmonary arterial hypertension, Viscerom... ORPHA:2905
Glioblastoma
Fatigue ORPHA:360
Botulism
Fatigue, Arrhythmia, Abdominal pain ORPHA:1267
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Type II diabetes mellitus ORPHA:91
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue OMIM:613077
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia, Hypoglycemia OMIM:607143
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Abdominal pain, Pulmonary embolism, Hyperlipidemia, Hypertension, Hypoalbuminemia ORPHA:567546
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypertrophic cardiomyopathy ORPHA:2609
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Secondary Intestinal Lymphangiectasia
Fatigue, Abdominal colic, Right ventricular failure, Reduced circulating transferrin concentratio... ORPHA:90363
Familial Aortic Dissection
Aortic regurgitation, Chest pain, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Neon... OMIM:223360
Congenital Myopathy 22A, Classic
Fatigue, Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase OMIM:620351
Cystic Echinococcosis
Fatigue, Hepatomegaly, Abnormal heart morphology, Hyperbilirubinemia, Epigastric pain ORPHA:400
Iatrogenic Botulism
Fatigue, Orthostatic hypotension ORPHA:254509
Gaucher Disease Type 3
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial e... ORPHA:77261
Gamma-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Fatigue ORPHA:100026
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypertyrosinemia, Hypoglycemia, Elevated circulating a... OMIM:276700
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Tenorio Syndrome
Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia OMIM:616260
Castleman Disease
Fatigue, Elevated circulating C-reactive protein concentration, Abdominal pain, Flank pain, Const... ORPHA:160
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, C... ORPHA:29072
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Hy... OMIM:619055
Poliomyelitis
Fatigue, Exercise intolerance, Hypertension, Hypovolemic shock, Arthralgia, Myalgia, Hypotension,... ORPHA:2912
X-Linked Agammaglobulinemia
Fatigue, Hypocalcemia ORPHA:47
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue ORPHA:98791
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Elevated circu... ORPHA:66634
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... OMIM:131100
Chronic Beryllium Disease
Fatigue ORPHA:133
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Myotonia Fluctuans
Fatigue, Myalgia ORPHA:99734
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Epistaxis, Congestive heart failure, Splenome... ORPHA:33226
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Pulmonary embolism, Dilated cardiomyopat... ORPHA:79282
Angiostrongyliasis
Fatigue, Abdominal pain, Arthralgia, Myalgia, Neck pain, Pain ORPHA:74
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Acute Promyelocytic Leukemia
Fatigue, Epistaxis, Abdominal pain, Diffuse alveolar hemorrhage, Bone pain, Gangrene ORPHA:520
Gitelman Syndrome
Prolonged QT interval, Fatigue, Abdominal pain, Ventricular tachycardia, Hypokalemia, Arthralgia,... OMIM:263800
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Immunodeficiency 70
Chronic fatigue OMIM:618969
Kaposi Sarcoma
Fatigue ORPHA:33276
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia... ORPHA:293978
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Pseudo-Torch Syndrome 3
Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Erdheim-Chester Disease
Fatigue, Abnormal pericardium morphology, Abdominal pain, Congestive heart failure, Bone pain, Xa... ORPHA:35687
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Lower limb pain OMIM:261990
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Elevated circulating C-reactive protein concentration, Abdominal pain, Fl... ORPHA:49041
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Hyperphosphatemia, Hypercalcemia OMIM:617994
Alveolar Echinococcosis
Fatigue, Low back pain, Abnormal pericardium morphology, Portal hypertension, Abdominal pain, Che... ORPHA:284
Autosomal Agammaglobulinemia
Fatigue ORPHA:33110
Cog8-Cdg
Hypoglycemia ORPHA:95428
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia OMIM:617093
Lymphoid Interstitial Pneumonia
Fatigue, Hepatomegaly, Raynaud phenomenon, Pulmonary venous hypertension, Enlarged kidney ORPHA:79128
Hereditary Fructose Intolerance
Hepatomegaly, Abdominal pain, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphat... ORPHA:469
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Arterial Tortuosity Syndrome
Fatigue, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart fail... ORPHA:3342
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Fatigue, Abdominal pain, Abnormal circulating creatine concentration... ORPHA:440437
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Arthralgia, Hypoalbuminemia, Chill... ORPHA:99826
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Hypoglycemia, Hyperleucinemia, Hyperammonemia OMIM:210210
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Exercise intolerance, Bicuspid aortic ... ORPHA:363705
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Amyotrophic Lateral Sclerosis
Fatigue, Pain ORPHA:803
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbu... OMIM:617156
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina p... ORPHA:900
Hemorrhagic Fever-Renal Syndrome
Shock, Back pain, Tachycardia, Fatigue, Epistaxis, Abdominal pain, Hematemesis, Elevated circulat... ORPHA:340
Atypical Juvenile Parkinsonism
Fatigue ORPHA:391411
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Abdominal pain, Bicarbonaturia, Hypophos... OMIM:229600
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Bradycardia, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hy... ORPHA:90674
Leigh Syndrome
Ventricular septal defect, Hypoglycemia, Congestive heart failure, Hyperalaninemia, Hypertrophic ... ORPHA:506
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Hellp Syndrome
Back pain, Fatigue, Shoulder pain, Cerebral hemorrhage, Abdominal pain, Hypotension, Epigastric p... ORPHA:244242
Mirage Syndrome
Intracranial hemorrhage, Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:617053
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue ORPHA:257
Acute Radiation Syndrome
Fatigue, Hypotension, Telangiectasia ORPHA:454831
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Arteritis OMIM:233600
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldostero... ORPHA:508
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Fatigue, Myocardial infarction, ... ORPHA:117
Hughes-Stovin Syndrome
Fatigue, Pulmonary embolism, Vasculitis, Chest pain, Pulmonary arterial hypertension ORPHA:228116
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Hypercalcemia, Hypermagnesemia, Bone pain, Hypophosphatemia OMIM:600740
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue ORPHA:352649
Multiple Myeloma
Fatigue, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain, H... ORPHA:29073
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Hypoglycemia ORPHA:90790
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Neonatal hypoglycemia ORPHA:445038
Adrenomyeloneuropathy
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Abnormal circulating fatty-acid con... ORPHA:139399
Absence Of The Pulmonary Artery
Exercise intolerance, Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegal... ORPHA:980
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Glucose intolerance, Atrial septal... OMIM:117550
Autosomal Dominant Dopa-Responsive Dystonia
Fatigue, Hypertension, Transient hyperphenylalaninemia ORPHA:98808
Lynch Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Fatigue, Cardiac diverticulum ORPHA:144
Septo-Optic Dysplasia Spectrum
Fatigue, Maternal diabetes ORPHA:3157
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... ORPHA:90791
Kawasaki Disease
Fatigue, Pericarditis, Abnormal heart valve morphology, Abdominal pain, Myocarditis, Congestive h... ORPHA:2331
Cyclic Neutropenia
Fatigue, Bone pain, Abdominal pain ORPHA:2686
Proximal Spinal Muscular Atrophy
Atrial septal defect, Fatigue, Bradycardia ORPHA:70
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Mitochondrial Complex I Deficiency, Nuclear Type 1
Exercise intolerance, Hepatomegaly, Hypoglycemia, Splenomegaly, Concentric hypertrophic cardiomyo... OMIM:252010
Hennekam-Beemer Syndrome
Fatigue, Telangiectasia of the skin, Abdominal pain, Hypotension, Arrhythmia ORPHA:2135
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly of finger, ... ORPHA:3455
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Hypoglycemia OMIM:618005
Renal Nutcracker Syndrome
Fatigue, Orthostatic hypotension, Tachycardia, Abdominal pain, Flank pain, Syncope ORPHA:71273
Primary Biliary Cholangitis
Fatigue, Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbumin... ORPHA:186
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Inhalational Botulism
Fatigue ORPHA:254504
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Chest pain, Abnormal circulating protein concentration ORPHA:747
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Hypoglycemia OMIM:614501
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ep... OMIM:268800
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Epi... ORPHA:97283
Functioning Gonadotropic Adenoma
Enlarged polycystic ovaries, Fatigue ORPHA:91348
Stevens-Johnson Syndrome
Fatigue, Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Abdominal pain... ORPHA:36426
Granulomatosis With Polyangiitis
Fatigue, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Astheni... OMIM:608710
Primary Sclerosing Cholangitis
Fatigue, Hepatomegaly, Portal hypertension, Spider hemangioma, Abdominal pain, Congestive heart f... ORPHA:171
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Flexion contracture, Abse... OMIM:264090
Alg12-Cdg
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Recurrent hypoglycem... ORPHA:79324
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Hypouricemia, Bone pain, Bicarbonaturia, Hypophosphatemia, Decreased circulating ca... ORPHA:3337
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Neonatal hypoglycemia, Pulmonic stenosis OMIM:300867
Ileal Neuroendocrine Tumor
Chronic fatigue, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Episodic abdo... ORPHA:100078
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue, Abnormal circulating thyroglobulin level ORPHA:99832
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue OMIM:618849
Tick-Borne Encephalitis
Back pain, Fatigue, Elevated circulating C-reactive protein concentration, Limb pain, Arthralgia,... ORPHA:297
Infection-Related Hemolytic Uremic Syndrome
Fatigue, Hyponatremia, Diabetes mellitus, Abdominal pain, Myocarditis, Hyperkalemia, Hypertension... ORPHA:544482
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Exercise intolerance, Hypertyrosinemia, Hypoglycemia, Hypertrophic cardiomyopathy, Recurrent hypo... OMIM:124000
Familial Pancreatic Carcinoma
Back pain, Diabetes mellitus, Chronic fatigue, Abdominal pain, Hepatosplenomegaly ORPHA:1333
Dermatomyositis
Fatigue, Pericarditis, Gangrene, Telangiectasia of the skin, Myocardial infarction, Myocarditis, ... ORPHA:221
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Gaucher Disease
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal peri... ORPHA:355
Kufor-Rakeb Syndrome
Fatigue OMIM:606693
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Patent foramen o... ORPHA:17
Hereditary Xanthinuria
Flank pain, Hypouricemia, Chronic fatigue, Hyperxanthinemia ORPHA:3467
Carney Triad
Gastrointestinal hemorrhage, Fatigue, Tachycardia, Abdominal pain, Hypertension, Arrhythmia ORPHA:139411
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Neonatal hypoglycemia ORPHA:565624
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Hypoglycemia ORPHA:2710
Listeriosis
Back pain, Fatigue, Pericarditis, Abdominal pain, Myocarditis, Congestive heart failure, Endocard... ORPHA:533
Acute Monoblastic/Monocytic Leukemia
Fatigue ORPHA:514
Pulmonary Alveolar Microlithiasis
Fatigue, Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary... ORPHA:60025
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... ORPHA:2162
Brucellosis
Fatigue, Hepatomegaly, Pericarditis, Transient ischemic attack, Elevated circulating C-reactive p... ORPHA:1304
Thyroid Hypoplasia
Fatigue ORPHA:95720
Zygomycosis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Diabetes mellitus, Epistaxis, Abdominal pain,... ORPHA:73263
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Arthralgia ORPHA:813
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Fatigue, Sudden cardiac death, Abdominal pain, Abnormal myocardium m... ORPHA:537
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia ORPHA:447788
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis ORPHA:1830
Japanese Encephalitis
Fatigue, Rigors, Hyponatremia, Abdominal pain, Myalgia, Chills ORPHA:79139
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Fatigue OMIM:619234
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Abdominal pain, Cardiomyopathy ORPHA:79430
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Hypoglycemia OMIM:616007
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Neonatal hypoglycemia ORPHA:572798
Vipoma
Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Episodic abdominal pain, Hematoc... ORPHA:97282
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Macs Syndrome
Fatigue OMIM:613075
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failure, De... ORPHA:14
Immunodeficiency 31C
Splenomegaly, Hepatomegaly, Fatigue, Diabetes mellitus OMIM:614162
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Abnormal circulating c... OMIM:620306
Kikuchi-Fujimoto Disease
Fatigue, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Myoca... ORPHA:50918
Sickle Cell Disease
Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Hypertension OMIM:603903
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Epi... ORPHA:97280
Glutaryl-Coa Dehydrogenase Deficiency
Exercise intolerance, Subdural hemorrhage, Retinal hemorrhage, Fasting hypoglycemia ORPHA:25
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue OMIM:617186
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Hypoglycemia, Telangiectasia ORPHA:109
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Arthralgia, Chronic fatigue OMIM:619656
Steinert Myotonic Dystrophy
Fatigue, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardi... ORPHA:273
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Abdominal pain, Steatorrhea ORPHA:309031
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Recurrent hypoglycemia, Hypoglycemia OMIM:256810
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue, Abnormal circulating thyroglobulin level, Hypoglycemia, Bradycardia ORPHA:226307
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Neonatal hypoglycemia OMIM:616271
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarg... OMIM:130650
Neurooculorenal Syndrome
Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve p... OMIM:620305
Non-Functioning Pituitary Adenoma
Fatigue, Hypotension ORPHA:91349
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Menkes Disease
Intracranial hemorrhage, Fatigue, Gastrointestinal hemorrhage, Hypoglycemia ORPHA:565
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypovolemia, Hyperkalemia, Abnormal circulati... ORPHA:168558
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Aortic valve atresia, Hyperammonemia, Hypert... OMIM:220111
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Elevated circulating alpha-fetop... ORPHA:116
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Fatigue, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Nocardiosis
Fatigue, Pericarditis, Abnormal heart valve morphology, Ocular pain, Night sweats, Endocarditis, ... ORPHA:31204
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypovolemia, Hyperkalemia, Abnormal circulati... ORPHA:289548
Tsh-Secreting Pituitary Adenoma
Fatigue, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertensio... ORPHA:91347
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Hypercalcemia, Shortened QT interval, Bone pain, Episodic abdominal pain, Hypophosphatem... ORPHA:99880
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly OMIM:301066
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia ORPHA:3464
Wiskott-Aldrich Syndrome
Fatigue, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vascu... ORPHA:906
Parathyroid Carcinoma
Fatigue, Hypercalcemia, Shortened QT interval, Bone pain, Episodic abdominal pain, Hypophosphatem... ORPHA:143
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Fatigue, Diabetes mellitus, Arthralgia, Myalgia ORPHA:183675
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Hypoglycemia... ORPHA:373
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Hyperlipidemia, Hyperkalemia, Hyperglycemia ORPHA:293987
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Fatigue, Abdominal pain, Chylopericardium, Chest pain ORPHA:538
African Trypanosomiasis
Fatigue, Abnormal EKG, Pericarditis, Hepatomegaly, Rigors, Urinary incontinence, Myocarditis, Con... ORPHA:3385
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia, Abnormal heart morphology ORPHA:96182
Perlman Syndrome
Hypoglycemia, Visceromegaly OMIM:267000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Prolactinoma
Fatigue, Hypotension ORPHA:2965
Familial Hypocalciuric Hypercalcemia
Fatigue, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Episodic abdominal pain, Hypocal... ORPHA:405
Coccidioidomycosis
Fatigue, Pericarditis, Vasculitis, Vasospasm, Chest pain, Cerebral ischemia, Myalgia ORPHA:228123
Costello Syndrome
Ventricular septal defect, Hypoglycemia, Sudden death, Mitral valve prolapse, Arrhythmia, Pulmoni... OMIM:218040
Plague
Fatigue, Hepatomegaly, Tachycardia, Abdominal pain, Hematemesis, Splenomegaly, Endocarditis, Arth... ORPHA:707
Aregenerative Anemia
Fatigue ORPHA:101096
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dorsocervical fat pad, Portal ... ORPHA:64
Rajab Interstitial Lung Disease With Brain Calcifications 1
Exercise intolerance, Hypoglycemia, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjuga... OMIM:613658
Acute Transverse Myelitis
Back pain, Fatigue, Orthostatic hypotension, Decreased circulating copper concentration, Urinary ... ORPHA:139417
Chikungunya
Fatigue, Shoulder pain, Epistaxis, Raynaud phenomenon, Arthralgia, Myalgia, Chills, Knee pain ORPHA:324625
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Fatigue ORPHA:44890
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Back pain, Fatigue, Ventricular septal defect, Bicuspid aortic valve, Abdom... OMIM:619475
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Fatigue, Arthralgia, Hyperbilirubinemia ORPHA:562639
Acromegaly
Fatigue, Diabetes mellitus, Hypertension, Mitral regurgitation, Arthralgia, Hypertrophic cardiomy... ORPHA:963
Somatomammotropinoma
Fatigue, Diabetes mellitus, Hypertension, Mitral regurgitation, Arthralgia, Hypertrophic cardiomy... ORPHA:314769
Xeroderma Pigmentosum
Conjunctival telangiectasia, Fatigue, Telangiectasia of the skin, Telangiectasia, Arthralgia ORPHA:910
Non-Acquired Panhypopituitarism
Fatigue, Hypoglycemia, Hypotension ORPHA:90695
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Cor pulmonale, Abnormal heart morphology ORPHA:2020
Immunodeficiency 58
Fatigue OMIM:618131
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Fatigue, Urinary incontinence ORPHA:466768
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Fatigue OMIM:617239
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Igg4-Related Kidney Disease
Fatigue, Pericarditis, Elevated circulating C-reactive protein concentration, Abdominal pain, Ele... ORPHA:449395
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Deeah Syndrome
Hepatomegaly, Decreased heart rate variability, Neonatal hypoglycemia OMIM:619004
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... OMIM:252500
Tetrasomy 9P
Fatigue, Pericarditis, Dextrocardia, Raynaud phenomenon, Abnormal cardiac septum morphology, Abno... ORPHA:3310
Classical Ehlers-Danlos Syndrome
Fatigue, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Limb pain, Mitral regu... ORPHA:287
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Malt Lymphoma
Fatigue, Abdominal pain ORPHA:52417
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Hip pain, Splenomegaly, Atrioventricular block, Reduced left ventricu... ORPHA:581
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Hypoglycemia, Hyperammonemia, Intracranial hemorrhage, Hypote... ORPHA:90062
Ogden Syndrome
Atrial septal defect, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, ... OMIM:300855
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Primary Sjögren Syndrome
Fatigue, Raynaud phenomenon, Vasculitis, Chronic pain, Arthralgia, Myalgia, Arteritis ORPHA:289390
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Elevated circulating C-reactive protein concentration, Abdominal pain, Flank pain, Ocula... ORPHA:91500
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Parkinson Disease 20, Early-Onset
Fatigue OMIM:615530
Selective Igm Deficiency
Raynaud phenomenon, Chronic fatigue ORPHA:331235
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain ORPHA:100086
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Sarcoidosis
Fatigue, Hepatomegaly, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension,... ORPHA:797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Decreased circulating cortisol level, Hypovolemia, Hyperkalemia, Hypochlorem... ORPHA:90794
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Marfan Syndrome
Mitral valve calcification, Arthralgia/arthritis, Chronic fatigue, Congestive heart failure, Mitr... ORPHA:558
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Combined Pituitary Hormone Deficiencies, Genetic Forms
Fatigue, Hypoglycemia, Hypotension ORPHA:95494
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Chronic fatigue, Abdominal pain ORPHA:424016
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Chronic fatigue, Abnormal heart morphology, Mitral reg... ORPHA:284984
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Hypertension, Ele... OMIM:201750
Holoprosencephaly 1
Hypoglycemia, Single ventricle OMIM:236100
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Kufor-Rakeb Syndrome
Fatigue, Urinary incontinence, Bowel incontinence ORPHA:306674
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Goodpasture Syndrome
Fatigue, Chest pain, Increased blood urea nitrogen, Chills, Pulmonary hemorrhage OMIM:233450
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Chronic fatigue, Subarachnoi... OMIM:613795
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Neonatal hypoglycemia OMIM:617248
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Fatigue, Type II diabetes mellitus OMIM:613406
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue ORPHA:79078
Hypermobile Ehlers-Danlos Syndrome
Fatigue, Arrhythmia, Arthralgia, Myalgia ORPHA:285
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Fatigue, Vulvodynia, Myalgia ORPHA:95455
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Sotos Syndrome
Ventricular septal defect, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Neonat... ORPHA:821
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... 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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fabp3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fabp3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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