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 |