Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:324575 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat... |
OMIM:617610 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... |
OMIM:619902 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Syncope... |
ORPHA:276580 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Dementia, Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hypertension, Congestive heart failure, H... |
OMIM:615703 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction, Hypercholesterolemia, Obesity |
OMIM:608320 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Acute Liver Failure |
|
Hypotension, Adrenal insufficiency, Elevated hepatic transaminase, Shock, Hypoglycemia, Abnormal ... |
ORPHA:90062 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Decreased circulating aldosterone level, Hyperkalemic metabolic acidosis, Decreased ... |
ORPHA:90794 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Right bundle branch block, Abnor... |
ORPHA:70591 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hypocapnia, Hyperphosphatemia, Hepatic failure, Rhabdomyolysis, Sin... |
ORPHA:466650 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... |
OMIM:612526 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Citrullinemia Type I |
|
Hepatic failure, Torticollis, Ataxia, Failure to thrive, Respiratory alkalosis, Hyperammonemia, L... |
ORPHA:247525 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Elevate... |
ORPHA:26793 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Supraventricular tachycardia, Abnormality of masseter muscle, High-output cong... |
ORPHA:423 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Multiple small medullary renal cysts, Periport... |
OMIM:263200 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Renal Fanconi syndrome, Glycosuria, Metabolic ketoaci... |
ORPHA:263455 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Difficulty walki... |
OMIM:164310 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal atrioventricular conduction, Reduced left ventricular ejec... |
ORPHA:45452 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Alcoholis... |
ORPHA:36238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... |
OMIM:615415 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Inappropriately normal thyro... |
OMIM:301033 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Increased C-peptide level, Hyperinsulinemia, Cirrhosis, Insulin re... |
ORPHA:528 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Elevated hepatic transaminase, Elevated circulating creatine kinase concentr... |
OMIM:613327 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:488650 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hyperuricemia, Increased serum lactat... |
OMIM:613845 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Systolic heart murmur, Bronchiectasis, Abn... |
ORPHA:980 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Respiratory insufficiency, Supraventricular tachycardia, Fatty replacement of skeletal muscle, El... |
OMIM:255100 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,... |
ORPHA:251274 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Elev... |
ORPHA:264675 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Hypert... |
ORPHA:369929 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Chondrocalcinosis, G... |
ORPHA:358 |
Aa Amyloidosis |
|
Hypotension, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnorma... |
ORPHA:85445 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Jaundice, Tachypnea, Lactic acidosis, Increased serum lactate,... |
OMIM:615751 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, R... |
ORPHA:363400 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Lactic acidosis, Hypoglycemia, Hepatomegaly, Hyperc... |
OMIM:306000 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Respiratory insufficiency, Falls, Apneic episodes in infancy, Apnea, Hypercapnia, Hypertrophic ca... |
OMIM:618222 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
East Syndrome |
|
Hyperaldosteronism, Inability to walk, Lower limb muscle weakness, Hypokalemia, Increased circula... |
ORPHA:199343 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Hypotension, Hyperuricemia, Weight loss, Acidosis, Hypertension, Agitation, Ataxia... |
ORPHA:134 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Episodic tachypnea, Intermittent hyperventilation, Intermittent l... |
ORPHA:348 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia... |
OMIM:617885 |
Scorpion Envenomation |
|
Cardiogenic shock, Abnormal nasal mucus secretion, Increased circulating creatine kinase MB isofo... |
ORPHA:466677 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentra... |
ORPHA:159 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Cardiomyopathy, Hyperglycinemia, Limb hypertonia, Lactic acidosis, Apnea, ... |
OMIM:606054 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia |
OMIM:618666 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... |
OMIM:616828 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Hyp... |
OMIM:222100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Failure to thrive, Increased blood urea nitrogen, Hyperam... |
OMIM:620085 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:66628 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Increased intraabdominal fat, Hepatomegal... |
OMIM:151660 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transaminase, Neonatal hypoglycemia... |
OMIM:212138 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:179494 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Elevated serum bicarbonate concentration, Hypokalemia, Increased circulating ... |
OMIM:214700 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hyperactivity, Small for gestational age, Failure to thrive, Hypocholesterolemia,... |
OMIM:610883 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Diabetic ketoacidosis, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respirat... |
ORPHA:70578 |
Acute Lung Injury |
|
Increased circulating surfactant protein level, Hypoxemia, Respiratory distress, Alcoholism, Diff... |
ORPHA:178320 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Intracranial he... |
ORPHA:404 |
Gitelman Syndrome |
|
Hypotension, Rhabdomyolysis, Hypokalemia, Increased circulating renin level, Ataxia, Hypokalemic ... |
OMIM:263800 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly |
OMIM:610539 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma, Hyp... |
OMIM:219090 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Synophrys, Hypertrophic cardiomyopathy, Hirsutism, Bone marrow hypocellula... |
OMIM:617303 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... |
ORPHA:231580 |
Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Small for gestational age, Abnormal respiratory system physio... |
ORPHA:70589 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circula... |
OMIM:600649 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Abnormality of ... |
ORPHA:563 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Small for gest... |
ORPHA:860 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Jaundice, Increased circulating T4 concentration, Elevated hepa... |
ORPHA:525731 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... |
ORPHA:370 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Elbow flexion contracture, Hypoplasia of the musculature, Dysphagia, Aspirat... |
ORPHA:2020 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Steppage gait, Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia |
OMIM:607250 |
Sandhoff Disease |
|
Motor deterioration, Congestive heart failure, Hepatomegaly, Splenomegaly, Progressive psychomoto... |
ORPHA:796 |
Temple Syndrome |
|
Hypertriglyceridemia, Flexion contracture, Precocious puberty, Small for gestational age, Maturit... |
OMIM:616222 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Tendon xanthomatosis, Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidem... |
ORPHA:79506 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:264580 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... |
ORPHA:75234 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Crackles, Hepatomegaly, Abnormal P wave, Lethargy, Wheezing, Thi... |
ORPHA:1329 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Steppage gait, Distal lower limb muscle weakness, Hypercholesterolemia, Distal amyotrophy... |
ORPHA:94124 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Hepatic fibrosis, Hepatocellular carci... |
ORPHA:247585 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Renal tubular acidosis, Ketotic hypogly... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Postprandial hyperlactemia, Intermittent lactic acidemia, Hepatocell... |
ORPHA:369 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... |
ORPHA:231625 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism, Reduced maximal inspiratory pressure, Ventilator dependence with inability to wea... |
ORPHA:505395 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Hypothyroidism, Right bundle branch block, De... |
ORPHA:263297 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Hepatocellular Carcinoma |
|
Hypotension, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hyponatremia, Hemobilia, ... |
ORPHA:88673 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... |
OMIM:278000 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, G... |
ORPHA:552 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Elevated circulating acylcarnitine concentration, Hypothyroidism, Premature t... |
OMIM:616878 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Whipple Disease |
|
Respiratory insufficiency, Hypotension, Hypothyroidism, Cachexia, Insulin resistance, Ataxia, Per... |
ORPHA:3452 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Choking episodes, Syncope, Respiratory distress, Failure to thrive, Re... |
ORPHA:60032 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:615838 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hypertension, Chronic t... |
OMIM:602088 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II ... |
OMIM:604367 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome... |
ORPHA:137675 |
Trimethylaminuria |
|
Anemia, Trimethylaminuria, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Acquired Methemoglobinemia |
|
Cyanosis, Syncope, Hypoxemia, Respiratory distress, Acidosis, Dyspnea, Palpitations, Arrhythmia, ... |
ORPHA:464453 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Tachycardia, Hypoglycemia, Dyspnea, Hepatomegaly, Lethargy, Hyperventilation, Metabolic ac... |
OMIM:229700 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Primary hyperald... |
OMIM:615474 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Hyperglycinemia, Respiratory distress, Ataxia, Dilated cardiomyopathy,... |
OMIM:614299 |
Coproporphyria, Hereditary |
|
Respiratory paralysis, Jaundice, Hypertension, Tachycardia, Hepatomegaly, Splenomegaly |
OMIM:121300 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Episodic ammonia intoxication, Ataxia, Failure to thrive, Respiratory alkalosis, Hyperammonemia, ... |
OMIM:237300 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Congestive heart failure, Hep... |
OMIM:613313 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Glu... |
ORPHA:369873 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... |
OMIM:610476 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Hypertension, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria,... |
OMIM:105200 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, ... |
ORPHA:69663 |
Cystinosis |
|
Hypothyroidism, Hypophosphatemia, Hypokalemia, Gait disturbance, Type I diabetes mellitus, Failur... |
ORPHA:213 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Lactic acidosis, In... |
OMIM:606407 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Hypotension, Rhabdomyolysis, Respiratory paralysis, Cerebral ischemia, P... |
ORPHA:449285 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Avian Influenza |
|
Pneumothorax, Rhabdomyolysis, Productive cough, Hepatitis, Hypoxemia, Respiratory distress, Eleva... |
ORPHA:454836 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Ataxia, Steatorrhea, Failure to thrive, Hepatom... |
OMIM:266510 |
Huntington Disease |
|
Gait imbalance, Weight loss, Abnormal circulating cholesterol concentration, Inability to walk, C... |
ORPHA:399 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Spastic gait, Hepatitis, Elevated hepatic transaminase, Failure to thrive, Respi... |
ORPHA:415 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Hypoxemia, Elevated ... |
ORPHA:542323 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Failure to thrive, Delayed puberty, Decreased HDL choles... |
OMIM:616834 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Increased circulating surfactant protein l... |
ORPHA:2257 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss, Failure to thrive, Hyponatremia, Lethargy, Polydipsia |
ORPHA:178029 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Sudden cardiac death, Elevated circulating alanine aminotransfer... |
OMIM:614921 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... |
ORPHA:731 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypotension, Cardiac arrest, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, ... |
ORPHA:70587 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... |
ORPHA:98853 |
Cog4-Cdg |
|
Cirrhosis, Limb hypertonia, Elevated hepatic transaminase, Ataxia, Hepatosplenomegaly, Hyperchole... |
ORPHA:263501 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Tendon xanthomatosis, Hypercholest... |
OMIM:603813 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Increased serum lactate, Elevated lactate:pyruvate ratio, Hypergonado... |
OMIM:619737 |
Laron Syndrome |
|
Hypoglycemia, Delayed puberty, Truncal obesity, Hypercholesterolemia, Abnormality of the endocrin... |
ORPHA:633 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Crackles, Restrictive venti... |
ORPHA:1302 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... |
ORPHA:98863 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Hyperuricemia, Metabolic acidosis, Weight loss, Cardiac arrest, Nonketotic hypoglyce... |
ORPHA:20 |
Analbuminemia |
|
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... |
OMIM:616000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... |
ORPHA:90065 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Failure to thrive, Elevated circulating parathyroid hormone level, ... |
OMIM:239200 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... |
OMIM:619386 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory distress, Failure to thrive, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Elevated circulat... |
OMIM:610978 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Hepatic failure, Enlarged kidney, Ascites, Hepatocellular carcinoma, Elevated ... |
OMIM:276700 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Hydronephrosis, Elevated circulating alanine aminotransferase... |
OMIM:608836 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Small for gestational age, Decreased circulating renin l... |
OMIM:218030 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased serum leptin, Recurrent pneumonia, Polyphagia, Obesity |
OMIM:614962 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hyperuricemia, Hypertension, Abnormality of the endocrine system, Diabetes mellit... |
ORPHA:77296 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... |
ORPHA:464329 |
Sepsis In Premature Infants |
|
Cyanosis, Hypotension, Decreased body weight, Small for gestational age, Nasal flaring, Jaundice,... |
ORPHA:90051 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... |
ORPHA:59303 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... |
OMIM:614857 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Hypertension, Elevated hepatic transamin... |
OMIM:232220 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Hypertension, Intracranial hemorrhage, Adrenal hyperplasia, Epistaxis, Secretory adr... |
ORPHA:403 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... |
ORPHA:231632 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Diabetes mellitus, Dyspnea, Cough, Respiratory failure requiring... |
ORPHA:140896 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Elevated circulating C-reac... |
OMIM:616414 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... |
ORPHA:98855 |
Multiple Carboxylase Deficiency |
|
Metabolic ketoacidosis, Respiratory distress, Ataxia, Hyperammonemia, Lethargy, Limb muscle weakn... |
ORPHA:148 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Weakness of facial m... |
OMIM:616239 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Diabetes insipidus, Polydipsia, Weight loss |
ORPHA:30925 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Reduced subcutaneous adipose tissue, Pleural effusion, Hypercholesterolem... |
OMIM:606721 |
Citrullinemia, Classic |
|
Cirrhosis, Episodic ammonia intoxication, Ataxia, Failure to thrive, Respiratory alkalosis, Hyper... |
OMIM:215700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Cirrhosis, Hepatic failure, Decreased l... |
ORPHA:77293 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, EMG: myopathic abnormalities, H... |
ORPHA:71 |
Ethylene Glycol Poisoning |
|
Cyanosis, Hypotension, Facial palsy, Hyperkalemia, Congestive heart failure, Ataxia, Hypertension... |
ORPHA:31826 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hypothyroidism, Tendon xanthomatosis, Obesity, Angina pectoris, Hepatic ste... |
ORPHA:412 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Limb-girdle m... |
ORPHA:96180 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Abetalipoproteinemia |
|
Hypothyroidism, Elevated hepatic transaminase, Hepatic steatosis, Steppage gait, Hepatomegaly, Hy... |
ORPHA:14 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... |
ORPHA:79477 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hypoglycemia, Abnormal pattern of respiration, Increased serum pyruvate, Hepatome... |
ORPHA:3008 |
Naxos Disease |
|
Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body... |
OMIM:601214 |
Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypokalemia, Hypertension |
OMIM:618126 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Abnormality of skin pigmentation, Jaundice, Acholic stools, Biliary tract abnormality,... |
ORPHA:1414 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Hyperpigme... |
OMIM:602390 |
Progressive Familial Intrahepatic Cholestasis |
|
Cognitive impairment, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Hereditary Coproporphyria |
|
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma... |
ORPHA:79273 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia, Cough, Bronchiectasis |
OMIM:619468 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exertional dyspnea, Rhabdomyolysis, Highly elevated creatine kinase, Glycogen accumulation in mus... |
ORPHA:368 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly |
OMIM:607685 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Systolic heart murmur, Airway obstruction, Palpitations, Abnormal P wave, Tricuspid reg... |
ORPHA:99106 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Ataxia, Lactic acidosis, Hypertrophic cardiomyopathy, Hypoglycemia... |
OMIM:246900 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... |
OMIM:604320 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Calcinosis, Impaired gluc... |
OMIM:248370 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Ventricular arrhythmia, Supraventr... |
ORPHA:280365 |
Cholera |
|
Hypotension, Aspiration pneumonia, Hypokalemia, Acidosis, Abnormal blood ion concentration, Lacti... |
ORPHA:173 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Elevated circulating alanine aminotransfer... |
OMIM:605814 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypothyroidism, Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Joint contracture of ... |
ORPHA:456312 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia... |
OMIM:307030 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilatio... |
OMIM:209880 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... |
OMIM:618156 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Acidosis, Myocardial infarction, Abnormality of venous physiology, ... |
ORPHA:90064 |
Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Hypoxemia, Hypertension, Pleural effusion, Crackles, Dyspnea, Elevated ... |
ORPHA:79126 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... |
ORPHA:96184 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia, Tachycardia |
OMIM:601887 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:208920 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Mat... |
ORPHA:70588 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Incr... |
OMIM:182290 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Cognitive impairment, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal h... |
ORPHA:846 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Inability to walk, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Sle... |
OMIM:615547 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Abnormal cardiac ventricular function, Decreased plasma carnitine, Elevated hepa... |
ORPHA:2394 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Tra... |
ORPHA:156 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Failure to thrive, Hypochloremic metabolic alkalosis |
OMIM:179010 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Episodic tachypnea, Apnea, Loss of ambulation, Dysphagia, Tachycardia |
ORPHA:79264 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating uracil concentr... |
OMIM:311250 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Abnormal magnesium concentration, Hypokalemia, Hypokalemic alka... |
OMIM:241150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... |
OMIM:619566 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
H Syndrome |
|
Alopecia, Abnormal eyebrow morphology, Facial telangiectasia, Enlarged kidney, Abnormality of the... |
ORPHA:168569 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... |
OMIM:115197 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Hypertension, Myocardial infarction, Increased LDL cholesterol concent... |
OMIM:615812 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Alopecia, Ne... |
OMIM:615559 |
Argininosuccinic Aciduria |
|
Hepatic fibrosis, Episodic ammonia intoxication, Ataxia, Elevated circulating aspartate aminotran... |
OMIM:207900 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Respiratory insufficiency, Hypothyroidism, Ventricular arrhythmia, Elevated hepatic transaminase,... |
ORPHA:254892 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Lactic acidosis, Increased serum lactate, Hypoglycemia, Increased serum pyr... |
OMIM:614741 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Congestive heart failure, Increased circulating free T3, Decreased th... |
OMIM:275000 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Hepatic fibrosis, Flexion contracture, Hypothyroidism, Abnormal subcutaneous fat ... |
OMIM:212065 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, Overweight, Renovascular... |
ORPHA:401923 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Mucopolysaccharidosis, Type Iiib |
|
Aggressive behavior, Synophrys, Asymmetric septal hypertrophy, Hirsutism, Progressive neurologic ... |
OMIM:252920 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Hirsutism, Enlarged polycystic ovaries |
ORPHA:90301 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... |
ORPHA:1303 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatocellular carcinoma, Hypertension, Elevated hepatic transaminase, Decreased... |
OMIM:232200 |
Tetanus |
|
Respiratory distress, Hypertension, Elevated circulating creatine kinase concentration, Dysphagia... |
ORPHA:3299 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Insulin insensitivity, Hypogonadism, Generalized amyotrophy, Type II d... |
OMIM:602668 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Tachypnea, Lactic acidosis, Aortic regurgitation, Hyp... |
OMIM:616501 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Interstitial Lung And Liver Disease |
|
Respiratory insufficiency, Hypothyroidism, Hepatic fibrosis, Elevated circulating alanine aminotr... |
OMIM:615486 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss, Hypoxemia, Chronic pulmonary obstruction, Emphysema, Inspiratory cra... |
ORPHA:79127 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Exertional dyspnea, Cachexia, Elevated hepatic transaminase, Ataxia, Eleva... |
ORPHA:42 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Enlarged kidney, ST segment depression, Congestive heart failure, ... |
OMIM:261740 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
Alpha-Heavy Chain Disease |
|
Alopecia, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... |
ORPHA:2126 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Central hypothyroidism, Gonadotropin deficiency, Elevated hepatic transaminase, Central... |
ORPHA:293987 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Thrombocytopenia, H... |
ORPHA:505248 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... |
ORPHA:217607 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Paroxysmal Extreme Pain Disorder |
|
Rhinorrhea, Bradycardia, Tachycardia |
OMIM:167400 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Elevated serum bicarbonate concentration, Dysdiadochokinesis, Hypokalemia, In... |
OMIM:612780 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Hypoplastic fingernail, Nephr... |
OMIM:608022 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Mental deterioration, Throm... |
OMIM:607616 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Myocarditis, Cellulitis, Hepatitis, Fasciitis, Peritonitis, Respiratory distress, El... |
ORPHA:36234 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentra... |
OMIM:609015 |
Double Outlet Right Ventricle |
|
Cyanosis, Heart murmur, Aplasia/Hypoplasia of the thymus, Failure to thrive, Tachycardia, Hypopar... |
ORPHA:3426 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... |
ORPHA:97292 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased plasma carnitine, Elevated hepatic... |
ORPHA:71212 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Cachexia, Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatospleno... |
ORPHA:275761 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired ... |
OMIM:261680 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Hypercapnia, Weakness of facial musculature, Dyspnea, Facial paralysis, Respiratory failu... |
ORPHA:79138 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Hypospadias, Generalized hyperpigmentation |
ORPHA:1355 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Diabetes mellitus, Hepatom... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Inability to walk, Elevated hepatic transaminase, Secondary hyperparat... |
ORPHA:273 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Nephrotic syndrome, Fair hair, Congestive heart failure, Hepatomega... |
OMIM:269920 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Irritability, Splenomegaly |
OMIM:615010 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Hypokale... |
OMIM:177200 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventilatory defect, Dyspn... |
ORPHA:2902 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... |
OMIM:610913 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hypertrophic cardiomyopathy, Increased serum lactate, Hepatomegaly |
OMIM:618810 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Respiratory distress, Ataxia, Hyperammonemia, Lethargy, Tachypnea |
ORPHA:79242 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Abnormal circulating calcium concentration, Cyanosis, Pneumothorax, Ex... |
ORPHA:60025 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat... |
ORPHA:381 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Elevated diastolic blood pressure, Hypovolemia, Increased ci... |
ORPHA:90041 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Reduced renal corticomedullary differentiation, ... |
OMIM:618541 |
Pyruvate Dehydrogenase Deficiency |
|
Multiple lipomas, Choreoathetosis, Gait disturbance, Ataxia, Dyspnea, Lethargy, Tachypnea |
ORPHA:765 |
Asbestos Intoxication |
|
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... |
ORPHA:2302 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Fasciitis, Elevated hepatic transaminase, Jaundice, Hepatosplenomegaly, Myosi... |
ORPHA:39812 |
Diffuse Alveolar Hemorrhage |
|
Weight loss, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Cough, Pulmo... |
ORPHA:90060 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Irritability, Splenomega... |
OMIM:613489 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Cognitive impairment, Right bundle branch block, Left ventricular systolic dysfunction, Dilated c... |
ORPHA:206559 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... |
ORPHA:439232 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... |
ORPHA:209902 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches, Lymph... |
ORPHA:2584 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hyperlipidemia, Hyperc... |
ORPHA:79259 |
Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
Atypical Rett Syndrome |
|
Gait ataxia, Inability to walk, Episodic tachypnea, Gait disturbance, Agitation, Loss of ambulati... |
ORPHA:3095 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Cirrhosis, Insulin resistance, Hypert... |
ORPHA:79086 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Precocious puberty, Gait disturbance, Obesity, Delayed puberty, Attention deficit... |
ORPHA:819 |
Lymphoid Interstitial Pneumonia |
|
Abnormality of connective tissue, Bronchiectasis, Weight loss, Raynaud phenomenon, Hypoxemia, Fai... |
ORPHA:79128 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Episodic hemolytic anemi... |
ORPHA:251004 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Small nail, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
OMIM:615631 |
Tenorio Syndrome |
|
Raynaud phenomenon, Gait disturbance, Syncope, Macroglossia, Apnea, Recurrent pneumonia, Hypoglyc... |
OMIM:616260 |
Alg12-Cdg |
|
Camptodactyly, Elevated hepatic transaminase, Chronic rhinitis, Failure to thrive, Recurrent pneu... |
ORPHA:79324 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age, Hypogonadism |
OMIM:617119 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, ... |
ORPHA:567548 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Hypokalemia, Increased circulating T4 concentration, Decreased thyr... |
OMIM:613239 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Inability to walk, Decreased plasma carnitine, ... |
ORPHA:26791 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Wolfram Syndrome |
|
Respiratory insufficiency, Diabetes insipidus, Hypogonadism, Ataxia, Male hypogonadism, Diabetes ... |
ORPHA:3463 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Tachycardia, Goiter |
OMIM:188580 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension, Adrenal hyperpl... |
OMIM:613677 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... |
OMIM:618892 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Cognitive impairment, Periportal f... |
ORPHA:64743 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Serotonin Syndrome |
|
Hypotension, Hepatic failure, Rhabdomyolysis, Hypertension, Agitation, Lactic acidosis, Restlessn... |
ORPHA:43116 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Abnormality of the liver, Respiratory paralysis, Sc... |
ORPHA:79473 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Emphysema, Pleural effu... |
OMIM:612387 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Hyperglyc... |
OMIM:245400 |
Relapsing Fever |
|
Increased total bilirubin, Hypotension, Jaundice, Elevated hepatic transaminase, Epistaxis, Cough... |
ORPHA:91547 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Abnormal EKG, Elevate... |
ORPHA:2041 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating creatine kinase concentration, Elev... |
ORPHA:64753 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Liddle Syndrome 2 |
|
Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Hyperten... |
OMIM:618114 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Small for gestational age, Lacti... |
OMIM:618253 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Steatorrhea, Failure to th... |
ORPHA:95427 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Small for gestational age, Lactic acidosis, Pleural effusion, Failure to thrive,... |
OMIM:614702 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Systolic heart murmur, Tricuspid regurgitation, Small for gestational age, Hypoxemia, H... |
ORPHA:555874 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Ataxia-Telangiectasia |
|
Cognitive impairment, Mucosal telangiectasiae, Premature graying of hair, Aplasia/Hypoplasia of t... |
ORPHA:100 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Polyphagia, Obesity, Broad-based gait |
ORPHA:411515 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Erdheim-Chester Disease |
|
Diabetes insipidus, Retroperitoneal fibrosis, Weight loss, Congestive heart failure, Ataxia, Pleu... |
ORPHA:35687 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Diabetes insipidus, Decreased response to growth... |
OMIM:203800 |
Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Elevated... |
OMIM:235200 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Lactic acidosis, Increased hepatic glycogen content, In... |
OMIM:613027 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance, Hypoxemia |
ORPHA:439167 |
16P12.1P12.3 Triplication Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Failure to thrive, Attentio... |
ORPHA:485405 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Congenital Analbuminemia |
|
Low pulse pressure, Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoprote... |
ORPHA:86816 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Tendon xanthomatosis, Dysdiadochokinesis, Gait disturbance, Ataxia, Dysmetr... |
OMIM:277460 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration |
OMIM:614025 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hyper... |
ORPHA:470 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine kinase conc... |
OMIM:618120 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Hyperglycinemia, Methylmalonic acidemia, Metabolic ketoacidosis, Respirato... |
OMIM:251000 |
Hydroxykynureninuria |
|
Hypotension, Renal tubular acidosis, Breathing dysregulation, Abnormal circulating tryptophan con... |
ORPHA:79155 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Babesiosis |
|
Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Congestive heart fa... |
ORPHA:108 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Hypoplastic toenails, Renal hypoplasia, Portal hypertension, Splenomegaly, Tric... |
OMIM:616589 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
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Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Gaucher Disease, Type Iii |
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