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 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... |
ORPHA:79084 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal mus... |
OMIM:613877 |
Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy... |
OMIM:123320 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Insulin resistance, Hypertension, Type II diabet... |
OMIM:615703 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Short statur... |
OMIM:612526 |
Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, T... |
ORPHA:276580 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Growth delay, Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, C... |
OMIM:610717 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Lower limb muscle weakness, Insulin re... |
OMIM:615980 |
Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Type I diabetes mell... |
ORPHA:276575 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Cardiomyopathy, Gluc... |
OMIM:606069 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Acquired Partial Lipodystrophy |
|
Myopathy, Insulin resistance, Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... |
OMIM:619048 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Gout, Hypertension, Gluc... |
OMIM:610947 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... |
ORPHA:79085 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... |
ORPHA:79083 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction |
OMIM:608320 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Progressive loss of facial adipose t... |
OMIM:608709 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Insulin resistance, Insulin-resi... |
ORPHA:79086 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Hypertension, D... |
OMIM:615238 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy |
OMIM:616323 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatic steatosis, Ketotic hypoglycemia, Myopathy |
ORPHA:26792 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Exercise-induced muscle fatigue, Increased intramyocellular lipid dro... |
ORPHA:681 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting ... |
ORPHA:276608 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, H... |
OMIM:232700 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Congestive heart f... |
ORPHA:528 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... |
OMIM:212140 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Myopathy |
OMIM:613077 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Exercise-induced muscle f... |
ORPHA:369847 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Cardiac arres... |
OMIM:212138 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper... |
OMIM:231530 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... |
OMIM:617253 |
Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Short stature, Delayed thelarche, Hyperinsulinemic hypo... |
OMIM:616033 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep... |
ORPHA:280365 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy, Shoulder girdl... |
ORPHA:254854 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote... |
ORPHA:369873 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis... |
OMIM:201475 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi... |
ORPHA:90065 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopa... |
ORPHA:228305 |
Preeclampsia |
|
Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic... |
ORPHA:275555 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... |
OMIM:246200 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemi... |
ORPHA:2298 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Foot dorsiflexor weakness |
OMIM:618400 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Abnormal muscle fiber morphology, Abnormal heart morphology, Camptodactyly of to... |
OMIM:175700 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Cardiomegaly,... |
ORPHA:42 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hyperinsulinemia, Glycosuria, Pancreati... |
ORPHA:263455 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:713 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce... |
ORPHA:36382 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Necrotizing Enterocolitis |
|
Shock, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Abnormal glucose homeost... |
ORPHA:391673 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Exercise-induc... |
OMIM:232800 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir... |
ORPHA:369 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension |
OMIM:189800 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:614921 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart mo... |
OMIM:618250 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Type II diabetes mellitus, Hyperglycemia, Coronary artery st... |
OMIM:615812 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Hyperglycemia, Lower lim... |
OMIM:619737 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy... |
ORPHA:1345 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Decreased muscle mass, Increased muscle fatiguability |
ORPHA:261476 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... |
OMIM:611126 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Proximal amyotrophy |
OMIM:604484 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... |
ORPHA:71212 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Scapular winging, Skeletal muscle atrophy, Hypoglycemia, Rhabdomyolysis, Abnormal h... |
ORPHA:26791 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia, Recurrent pneumonia |
OMIM:602079 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard... |
ORPHA:3452 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension, Abnormal mitral valve morphology |
ORPHA:1192 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... |
ORPHA:79319 |
Patent Ductus Venosus |
|
Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy... |
OMIM:601466 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy |
OMIM:185070 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Placental Insufficiency |
|
Insulin resistance, Abnormal heart morphology |
ORPHA:439167 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Abnormal tricuspid v... |
ORPHA:199276 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Multiple lipomas |
ORPHA:1879 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria |
ORPHA:2089 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension |
OMIM:121300 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... |
ORPHA:1227 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... |
OMIM:618805 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... |
ORPHA:860 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypog... |
OMIM:615996 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... |
ORPHA:99901 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... |
OMIM:615363 |
Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin |
ORPHA:791 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Raynau... |
ORPHA:206572 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasi... |
ORPHA:440713 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Exocrine pancreatic insufficiency |
OMIM:260400 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... |
ORPHA:3287 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Atrial septal defect, Enlarged ovaries, Reduced subcutaneous adipose tis... |
ORPHA:769 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic... |
OMIM:600001 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... |
ORPHA:494424 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... |
OMIM:269880 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasi... |
ORPHA:746 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Hypertension, Increased circ... |
OMIM:615830 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased adipose tissue, Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopa... |
ORPHA:1349 |
Monosomy 13Q34 |
|
Epistaxis, Insulin resistance, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis |
ORPHA:96168 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Pustule, Abnormality of the adrenal glan... |
ORPHA:68 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Abnormal heart morphology, Decreased liver function, Hypertrophic cardi... |
ORPHA:70472 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... |
ORPHA:785 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g... |
ORPHA:73272 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypertension, Hypotension, Hyperglycemia |
ORPHA:134 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe... |
OMIM:609069 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Knee fle... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Increased sar... |
ORPHA:264580 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent f... |
OMIM:601005 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase |
OMIM:615453 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Abnormal heart morphology, Lower-limb ... |
ORPHA:99885 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Syncop... |
ORPHA:230 |
Stiff Skin Syndrome |
|
Hypertension, Lipoatrophy, Type II diabetes mellitus |
ORPHA:2833 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Ragge... |
OMIM:124000 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Diabetes mel... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Failure to thrive, C... |
OMIM:614096 |
Polycystic Kidney Disease 5 |
|
Hypertension, Enlarged kidney, Hepatosplenomegaly |
OMIM:617610 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy, Right bu... |
OMIM:619322 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Renal tubular epithelial necrosis... |
ORPHA:228308 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Lipodystrophy, Myocardial infarction, Lipoat... |
ORPHA:902 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating ... |
OMIM:256810 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... |
ORPHA:615 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe... |
ORPHA:466677 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Delayed puberty... |
OMIM:232200 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Congestive he... |
ORPHA:206569 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal cir... |
ORPHA:79474 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... |
ORPHA:79102 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypothyroidism, Tendon xant... |
ORPHA:412 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... |
ORPHA:52430 |
Paroxysmal Hemicrania |
|
Hypertension, Rhinitis, Diabetes mellitus |
ORPHA:157835 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Nephritis |
OMIM:161900 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Ins... |
ORPHA:508 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Fasting hypoglycemia, Hep... |
ORPHA:348 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal... |
OMIM:619487 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia |
OMIM:615935 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Cardiomyopathy, Hepatic steatosis, Neonatal hypogl... |
ORPHA:445038 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ... |
ORPHA:66634 |
Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis |
ORPHA:3156 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypertension, Portal fibrosis, Hepati... |
OMIM:619111 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Hypertension, Proximal limb muscle stiffness, Asymmetric limb mus... |
OMIM:184850 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, Nephritis |
OMIM:613944 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arr... |
ORPHA:3386 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic failure |
OMIM:602579 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic ... |
OMIM:182410 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature th... |
ORPHA:371428 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... |
ORPHA:2959 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short stature, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure |
ORPHA:2724 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma |
ORPHA:210548 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Diabetes mellitus, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endoc... |
ORPHA:449280 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Hypotension, Cellulit... |
ORPHA:549 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Hypertension, Arthritis, Serositis |
ORPHA:567544 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism |
ORPHA:300536 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... |
ORPHA:3099 |
Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Tubulointerstitial nephritis, Prominent U wave, Abnormal ... |
ORPHA:358 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Hepatic cysts, Mitral valve prolapse |
OMIM:173900 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... |
ORPHA:3163 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Atrial fibrillation, Puberty and gonad... |
ORPHA:525731 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard... |
ORPHA:139402 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Congenital Macroglossia |
|
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Limb hypertonia |
OMIM:615918 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Myocarditis, Splenomegaly, ... |
ORPHA:829 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... |
OMIM:614300 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:618620 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta... |
ORPHA:453533 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle ... |
ORPHA:369840 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... |
OMIM:227810 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Elevated circulating globotria... |
OMIM:301500 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased muscle mass, Hepatosplenomegaly, Hypo... |
OMIM:619013 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosple... |
ORPHA:444490 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Del... |
OMIM:232220 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Raynaud phen... |
OMIM:615688 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly |
ORPHA:163596 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypoglycemia, Ventricular septal defect, Microvesicular hepatic s... |
OMIM:619418 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Glycosuria, Diffuse hepatic st... |
ORPHA:436271 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:617093 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Nephronophthisis 18 |
|
Hypertension, Tubulointerstitial nephritis, Portal fibrosis, Cholestasis |
OMIM:615862 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... |
ORPHA:183 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Shigellosis |
|
Hypoglycemia, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Cholestasis, Uveitis, Ulcerati... |
ORPHA:810 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... |
OMIM:610205 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... |
OMIM:208250 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Bicuspid aortic valve, Mitral atresia, Increased hepatocellular li... |
OMIM:220111 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... |
OMIM:300280 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Myocardi... |
ORPHA:36234 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Limb muscle weakness, Diabetes... |
ORPHA:97229 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Hypothyroidism |
OMIM:616541 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Recurrent otitis media, ... |
ORPHA:449291 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hypotension... |
ORPHA:292 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia |
OMIM:210200 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis... |
ORPHA:47612 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hepatic steatosis, Ventricular septal defect, Precocious puberty, Mitral re... |
ORPHA:254346 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Epistaxis, Elevated circulating aspartate aminotransferase concentration, Diffuse a... |
OMIM:614034 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo... |
ORPHA:781 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, Nephritis |
OMIM:161950 |
Silver-Russell Syndrome |
|
Short stature, Postnatal growth retardation, Precocious puberty, Insulin resistance, Recurrent hy... |
ORPHA:813 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Ray... |
ORPHA:247691 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Hepatic cysts |
OMIM:613095 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Epistaxis, Hypothyroidism, Delayed puberty, Hepatocellular adenoma, H... |
ORPHA:79259 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistance, Type II diabetes... |
ORPHA:91 |
3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Recurrent pneumonia, Flexion contracture, Hepatic steatosis, Neonatal h... |
OMIM:616271 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACT... |
OMIM:219090 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... |
OMIM:617021 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Cardiac... |
ORPHA:20 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Optic neuritis, Myelitis, Malar rash, Hypertensive crisis |
OMIM:301080 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Myocardial infarction, Mitral valve prolapse, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertensi... |
OMIM:232240 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Hypertension, Recurrent pneumonia |
OMIM:616069 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Glycosuria |
OMIM:618913 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Short stature, Hyperlipidemia |
ORPHA:90153 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... |
ORPHA:79303 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Myopathy, Decreased liver function, Hepatic steatosis |
OMIM:614922 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Decreased response to growth hormone stimulation test, Precocious puberty,... |
ORPHA:96182 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased liver function, Hepatic cysts |
OMIM:600666 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Cardiomyopathy, Myopathy, Sh... |
ORPHA:98907 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona... |
OMIM:230800 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis... |
OMIM:617321 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... |
OMIM:220110 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Patent forame... |
ORPHA:17 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... |
OMIM:617156 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Congestive heart failure, Cardiomegaly, Hepatomegaly |
OMIM:269920 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Precocious puberty, In... |
ORPHA:786 |
Nelson Syndrome |
|
Increased urinary cortisol level, Lower limb muscle weakness, Quadriceps muscle atrophy, Pituitar... |
ORPHA:199244 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Infectious encephalitis, Nephritis, He... |
ORPHA:73263 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy |
OMIM:275630 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati... |
ORPHA:79322 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Skin rash, Gastritis, Myocardi... |
ORPHA:809 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Lymphadenitis, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Neoplasm of the liver |
ORPHA:69077 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hyperaldosteronism |
OMIM:605635 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Congenital diaphragmatic hernia |
OMIM:166300 |
Thalidomide Embryopathy |
|
Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Perica... |
OMIM:212065 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevate... |
OMIM:619991 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... |
ORPHA:2848 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
C3 Glomerulopathy |
|
Hypertension, Membranoproliferative glomerulonephritis, Lipodystrophy |
ORPHA:329918 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr... |
ORPHA:90795 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis |
OMIM:603903 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... |
OMIM:215600 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadot... |
ORPHA:298 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Nephronophthisis 2 |
|
Situs inversus totalis, Hypertension, Chronic tubulointerstitial nephritis, Pulmonary insufficien... |
OMIM:602088 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Hep... |
OMIM:216360 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti... |
OMIM:186580 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... |
OMIM:219080 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, Hy... |
OMIM:615846 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Decreased ... |
ORPHA:320 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Gout, Hepatic cysts |
OMIM:618061 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Myopathy, Hepatic steatosis |
ORPHA:977 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Recurrent pneumonia, Flexion contracture, P... |
OMIM:617303 |
Bloom Syndrome |
|
Diabetes mellitus, Skin rash, Pneumonia, Adipose tissue loss, Insulin resistance, Cheilitis, Uvei... |
ORPHA:125 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Gastrointestinal inflammation, Glucose intolerance,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Gastrointestinal inflammation, Glucose intolerance,... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Gastrointestinal inflammation, Glucose intolerance,... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Gastrointestinal inflammation, Glucose intolerance,... |
ORPHA:881 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Recurrent otitis media, Umbilical hernia, Hepatic fa... |
OMIM:619758 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Gout, Eleva... |
ORPHA:90041 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Pancreatic fi... |
ORPHA:699 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Palpitations, Para... |
ORPHA:94080 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Superficial dermal perivascular inflammatory infil... |
ORPHA:542643 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Congestive hear... |
ORPHA:444077 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:145260 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Congestive heart failure, Pulmo... |
ORPHA:363618 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... |
ORPHA:93111 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Abnormal mitral valve morphology,... |
ORPHA:740 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis |
ORPHA:231111 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypertension, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly |
ORPHA:391428 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Tachycardia, Scarring, Hy... |
ORPHA:79473 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Myocarditis, Keratoconjunc... |
ORPHA:81 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cholestasis, Hypertension, R... |
ORPHA:52 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... |
ORPHA:99827 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Abnormal dental enamel morphology |
ORPHA:757 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ... |
ORPHA:2331 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Splenome... |
ORPHA:93473 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per... |
OMIM:263200 |
Caudal Regression Syndrome |
|
Hypertension, Decreased muscle mass, Maternal diabetes |
ORPHA:3027 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Elevated ... |
OMIM:300972 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, ... |
OMIM:616260 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,... |
OMIM:229600 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Elevated circulating aspartate amino... |
OMIM:619573 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Vasculitis, Uv... |
ORPHA:32960 |
Listeriosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart fai... |
ORPHA:533 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension |
OMIM:603278 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Absence of subcutaneous fat, ... |
OMIM:616914 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, EMG: myopathic abnormalities, Myopathy, Increased hepatocellular l... |
ORPHA:71 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna... |
OMIM:616113 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni... |
ORPHA:3342 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Pyelonephritis, Hypertension, ... |
ORPHA:730 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... |
ORPHA:247585 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, Hepatomega... |
ORPHA:1304 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon... |
ORPHA:900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Nephroblastoma |
|
Hypertension, Neoplasm of the liver |
ORPHA:654 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Bicuspid aortic valve, Subarach... |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... |
ORPHA:137675 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Left atrial enlargement, Decreased serum leptin, Flexion contracture, Right bundle b... |
OMIM:614008 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit... |
ORPHA:90291 |
Bloom Syndrome |
|
Bronchiectasis, Type II diabetes mellitus, Facial telangiectasia in butterfly midface distributio... |
OMIM:210900 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... |
ORPHA:85450 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... |
ORPHA:96253 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant ... |
ORPHA:319213 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Acute colitis, Pneumonia, Myocarditis, Hypertension, Septic arthritis, Pancrea... |
ORPHA:544482 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:176270 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... |
ORPHA:293987 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Abnormality of the liver, Lower limb hypertonia |
ORPHA:2169 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Hypothyroidi... |
ORPHA:14 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, ... |
OMIM:208050 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Spondyloenchondrodysplasia |
|
Skin rash, Decreased response to growth hormone stimulation test, Pneumonia, Raynaud phenomenon, ... |
ORPHA:1855 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Adrenocortic... |
OMIM:130650 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm... |
ORPHA:397 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Elevated circulating thyroid-stimulat... |
OMIM:256040 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, Hypotens... |
ORPHA:58 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Uveitis, Hypertens... |
ORPHA:90321 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Nocardiosis |
|
Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Osteomyelitis, Keratitis... |
ORPHA:31204 |
Liddle Syndrome 2 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, H... |
ORPHA:349 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... |
ORPHA:67 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Minimal change glomerulonephritis, ... |
ORPHA:1830 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Liddle Syndrome 1 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
Blau Syndrome |
|
Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, Keratitis, Splenomegaly, Retrobul... |
ORPHA:90340 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad... |
ORPHA:231632 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure |
ORPHA:43116 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Infant Botulism |
|
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis media |
ORPHA:178478 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Poliomyelitis |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Hypoplasia of the musculature, Abnormal skel... |
ORPHA:2912 |
Renal Hypoplasia, Bilateral |
|
Hypertension, Glycosuria |
ORPHA:97362 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pancreatoblastoma, Pituitary corticotropic cell adeno... |
ORPHA:99889 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Portal hypertension, Cholestasis, B... |
OMIM:613658 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Bronchiectasis |
ORPHA:79126 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... |
OMIM:261515 |
Marburg Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Hypoglycemia, Maculopapular exan... |
ORPHA:99826 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the endocrine system, Abnormali... |
ORPHA:228123 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Pe... |
ORPHA:342 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypertension, Arrhythmia, Umbilical hernia, Hypertrophic cardiomyopathy |
OMIM:614052 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... |
ORPHA:580 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval... |
OMIM:614947 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Abnormal dental enamel morphology, Hypertension, Delaye... |
ORPHA:251004 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Splenomegaly, Patent d... |
OMIM:613610 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... |
OMIM:614653 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Acne, Elevated circulating growth hormone conce... |
ORPHA:963 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Interstitial pneumonitis, Hypotension |
ORPHA:330021 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Absence of subcutaneous fat, Corneal scarring, Hypertension, Ename... |
OMIM:610965 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he... |
ORPHA:276621 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Progressive flexion contractures, Hypertension, Rheumatoid arthritis, Hypothyroidism |
ORPHA:98808 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Immunodeficiency 22 |
|
Chronic oral candidiasis, Pericarditis, Panniculitis, Capillary leak |
OMIM:615758 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Hyperspleni... |
ORPHA:275761 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Elevated circulating thyroid-stimulating hormone concentration, Hypert... |
OMIM:242900 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614495 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Tubulointerstitial nephritis, Facial hypotonia, Limb hypertonia |
OMIM:617595 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... |
ORPHA:217085 |
Lead Poisoning |
|
Skin rash, Hypertension, Tubulointerstitial nephritis, Decreased circulating osteocalcin level, D... |
ORPHA:330015 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Premature... |
OMIM:611962 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... |
ORPHA:394 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Congesti... |
ORPHA:31826 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Arthritis, Crohn's disease, Erys... |
OMIM:249100 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct... |
ORPHA:90068 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Hepatocellular carcinoma |
OMIM:176000 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Hypogo... |
ORPHA:79318 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... |
ORPHA:217093 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Renovascular hypertens... |
ORPHA:49041 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Chilblai... |
ORPHA:51 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Rhabdomyoly... |
ORPHA:509 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Thyroid C cell hyperplasia, ... |
ORPHA:653 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614496 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he... |
ORPHA:29072 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bra... |
ORPHA:94093 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Limb-girdle muscular dystrophy, Esophagitis, Hepatic... |
OMIM:615356 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
African Trypanosomiasis |
|
Conjunctivitis, Iritis, Abnormal EKG, Hepatomegaly, Abnormality of the endocrine system, Hepatosp... |
ORPHA:3385 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypoglycemia |
OMIM:610768 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Arthrit... |
ORPHA:221 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Pheochromocytoma, Adrenoc... |
ORPHA:139411 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Arthritis, Pulmonary a... |
ORPHA:220393 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Flexion contracture, Intrauterine growth retardation, Hy... |
OMIM:616897 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o... |
ORPHA:29207 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Increased circulating free fatty acid level, Pericardial... |
ORPHA:26793 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Pneumonia, Glomerulonephritis, Hema... |
ORPHA:340 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Umbilical hernia, Abnormality of the pancreas |
ORPHA:1555 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Hep... |
OMIM:188400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Myhre Syndrome |
|
Inguinal hernia, Femoral hernia, Precocious puberty, Skeletal muscle hypertrophy, Hypertension, A... |
ORPHA:2588 |
Arima Syndrome |
|
Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Reduced ... |
ORPHA:191 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension, Pyelonephritis |
ORPHA:2036 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Patent ductus arteriosus, Pulmonary arterial hypertension |
OMIM:613834 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent du... |
OMIM:300868 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Eczema, Precocious puberty, Splenomegaly, Patent ductus ... |
OMIM:270400 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... |
OMIM:619377 |
Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... |
ORPHA:2968 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Congenital diaphragmatic hernia |
ORPHA:2260 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Marshall-Smith Syndrome |
|
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contracti... |
OMIM:602535 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Abnormal heart morphology, Hypertension, Hepatic fibrosis, Enamel hypoplasia, H... |
OMIM:311200 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hip contracture, Splenomegaly, Enamel hypoplas... |
OMIM:216400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Nodular re... |
ORPHA:404454 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cardiomegaly, Neonatal hypoglycemia, Leiomyosarcoma, Hepatoblast... |
ORPHA:116 |
Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Tachycardia, Proximal muscle weakness in lower limbs, Hy... |
ORPHA:79276 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Hype... |
ORPHA:805 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171300 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Chronic otitis ... |
ORPHA:904 |
Williams-Beuren Syndrome |
|
Inguinal hernia, Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hype... |
OMIM:194050 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the spleen, Hypothyroidi... |
ORPHA:1606 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract... |
OMIM:619503 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... |
ORPHA:449395 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Hepatic hemangioma, Pheochromocytoma, P... |
OMIM:193300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension, Nephritis |
OMIM:203780 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cholestasis, ... |
ORPHA:247598 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Chronic otitis media, Atrial septal defect, Hypothyroidism, Hypoparathy... |
ORPHA:567 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... |
ORPHA:2463 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Pustule, Myocarditis, Splenomegaly, Vascu... |
ORPHA:50918 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Inappropriate antidiuretic ... |
ORPHA:79330 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Chronic pancreatitis |
OMIM:613159 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Hiatus hernia, Camptodactyly |
OMIM:617729 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Diastasis recti, Cardiomegaly, Congestive he... |
OMIM:252500 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Osteomyelitis, Bicuspid aortic ... |
OMIM:619475 |
Carney Complex |
|
Neoplasm of the pancreas, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroi... |
ORPHA:1359 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Atypical scarring of skin, Hyper... |
OMIM:133540 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Hyperten... |
ORPHA:1358 |
Scalp-Ear-Nipple Syndrome |
|
Cardiac myxoma, Congestive heart failure, Pyelonephritis, Hypertension, Multiple lipomas, Suprave... |
OMIM:181270 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hyperaldosteronism, Increased circulating renin level |
OMIM:612780 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Tubulointerstitial nephritis, Gout, Hypotension |
OMIM:174000 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Patent ductus arteriosus, Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension |
OMIM:256700 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical... |
OMIM:618143 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular ... |
ORPHA:581 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard... |
ORPHA:51608 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Rhizomelia, Short stature, Congenital diaphragmatic hernia, Bicuspid aortic valv... |
OMIM:245600 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Hypertension, Congenital diaphragmatic hernia, Enlarged kidney |
OMIM:194080 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita,... |
OMIM:608013 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Myositis, Dextrocardia, Abnormal dental enamel morphology, Rayn... |
ORPHA:3310 |
Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Patent duct... |
ORPHA:1272 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension |
OMIM:612926 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Peritonitis, Hypertension, Pancreatitis, Acute colitis |
ORPHA:90038 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension |
OMIM:612924 |
Wagro Syndrome |
|
Hypertension |
OMIM:612469 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension, Nephritis |
OMIM:301050 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Hypertension, Calcinosis |
OMIM:617913 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Intestinal bleeding, Cirrhosis, Constrictive pericarditis, Secondary h... |
ORPHA:90363 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension |
OMIM:612925 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Jaundice, Hypertension, Budd-Chiari syndrome, Glycosuria |
ORPHA:447 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Hallermann-Streiff Syndrome |
|
Hypertension, Recurrent pneumonia, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Abnormal dental enamel morphology, Pancreatic cysts, Abnormality o... |
ORPHA:2750 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Cheilitis, Hypertension, Arthritis, Mala... |
ORPHA:536 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia |
OMIM:230000 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Papillorenal Syndrome |
|
Hypertension |
OMIM:120330 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... |
OMIM:210710 |
Posterior Urethral Valve |
|
Hypertension, Pyelonephritis |
ORPHA:93110 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension, Nephritis, Glomerulonephritis |
OMIM:104200 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... |
ORPHA:3472 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Precocious puberty, Renovascular hypertension, Glom... |
ORPHA:97685 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension |
OMIM:235400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Minimal change glomerulonephritis, Pulmonary embolism |
ORPHA:567546 |
Alport Syndrome |
|
Hypertension, Nephritis |
ORPHA:63 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Hypertension, Pulmonic stenosis, Recurrent otitis media, Ch... |
OMIM:245150 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... |
ORPHA:139417 |
Au-Kline Syndrome |
|
Hypertension |
OMIM:616580 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Hypoplasia of the ovary, Hepatic steatosis |
OMIM:619321 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Precocious puberty, Hypertension, Multiple lipomas, Pheochro... |
ORPHA:636 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Recurrent skin infections, Eczema, Keratitis, Hypertension, Erythro... |
OMIM:308205 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension, Enamel hypoplasia |
OMIM:300896 |
Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Pheochromocytoma, Rhabdomyosarcoma |
OMIM:162200 |
Bartter Syndrome Type 4 |
|
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... |
ORPHA:89938 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Ayme-Gripp Syndrome |
|
Pericarditis, Camptodactyly |
OMIM:601088 |
Renal Dysplasia |
|
Hypertension, Enlarged kidney, Pyelonephritis |
ORPHA:93108 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage, Skeletal muscle atrophy |
OMIM:609049 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morp... |
ORPHA:286 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |