Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... |
OMIM:605899 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Cryptorch... |
ORPHA:97362 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutrope... |
ORPHA:79312 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutamatemia, Hyperammonemia, Aggressive behavior |
OMIM:237310 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... |
OMIM:300842 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... |
ORPHA:650 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia |
ORPHA:28 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Cerebellar ... |
OMIM:606054 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:619386 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pituitary grow... |
ORPHA:730 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Hyperammonemia, Anemia, Leukopenia, Cardiom... |
ORPHA:27 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre... |
ORPHA:96180 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia, Renal tubular dysfunction, Growth dela... |
ORPHA:289916 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita... |
ORPHA:2260 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hyperammonemia, Elevated circulating sub... |
OMIM:615160 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperammonemia... |
OMIM:600649 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Dela... |
OMIM:232220 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Meth... |
OMIM:251000 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia... |
OMIM:603471 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Short stature, Ane... |
OMIM:222700 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homocitrullinuria, ... |
OMIM:238970 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Lethargy |
OMIM:616483 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tub... |
OMIM:616457 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Growth delay, Myopathy, EMG: myopathic abnormalities, Hypoc... |
ORPHA:71 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Elevated circulating branched chain amino acid concentration, Hype... |
ORPHA:2394 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormality of the kidney, Abnormal pulmonary valve morphology, Campto... |
ORPHA:1194 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness, Elevated circulating creatine kinase concentration... |
OMIM:200150 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Short stature, Jaundice, Chronic kidney disease,... |
ORPHA:1667 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, Hyperlipidemia, Delayed puberty,... |
OMIM:232200 |
Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia |
ORPHA:35 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dil... |
OMIM:618120 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Sudden cardiac death, Elevated ci... |
ORPHA:99901 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Anorexia |
ORPHA:79283 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:255120 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... |
ORPHA:42 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... |
OMIM:232240 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis... |
ORPHA:292 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Hyperhomocysti... |
OMIM:236270 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Propionyl-CoA carboxylase... |
OMIM:210210 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Mild postnatal growth... |
OMIM:224120 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level |
OMIM:274270 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Leth... |
OMIM:222748 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyper... |
OMIM:614702 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Abnormal rep... |
ORPHA:927 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis |
OMIM:271500 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Cardiomeg... |
ORPHA:14 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Hyperammonemia, Neutropenia, Sparse hair, Intrauterine gr... |
OMIM:618253 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolith... |
ORPHA:18 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Elevated circulatin... |
OMIM:212138 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Acanthocytosis |
OMIM:604777 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypospadias, Small for gestational age, Hyperammonemia, Growth delay, Re... |
OMIM:615471 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Hypoargininemia |
OMIM:237300 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Lethargy, Hepatic failure, Hyperammonemia |
ORPHA:247525 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met... |
OMIM:246450 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Cardiac arrest, Acanthocytosis, Flexion contracture, Elbow flexion contracture... |
OMIM:618947 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati... |
OMIM:201475 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Cyanosis, Elevated ... |
ORPHA:159 |
Argininosuccinic Aciduria |
|
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hyperammonemia |
ORPHA:23 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... |
ORPHA:6 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylgl... |
ORPHA:254913 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Low plasma citrulline, Hyperammonemia, Hepatic failure |
OMIM:618567 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... |
OMIM:618416 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Asymptomatic hyperammonemia |
ORPHA:35878 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapular winging, Elevated circulating... |
ORPHA:26791 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Asymptomatic hyperammonemia |
OMIM:606762 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leukocytosis, Jaundice, Dilated card... |
ORPHA:20 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, P... |
ORPHA:71212 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... |
OMIM:620300 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Hyperammon... |
OMIM:251110 |
Argininosuccinic Aciduria |
|
Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, Hyperammonemia,... |
OMIM:207900 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia |
ORPHA:1935 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hyperammonemia |
OMIM:614111 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... |
OMIM:619051 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, ... |
ORPHA:134 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Developmental And Epileptic Encephalopathy 82 |
|
Short stature, Hyperammonemia, Decreased body weight |
OMIM:618721 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Distal amyo... |
OMIM:219150 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Depression, Lethargy, Polydipsia |
ORPHA:178029 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy, Decreased liver function, Elevated hepatic transaminase |
OMIM:246900 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Growth delay, Hypertrophic cardiomyopathy, Hyperammonemia, Abnormal renal tubule morphology |
OMIM:611719 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ... |
ORPHA:98870 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Fatal liver failure in infancy |
ORPHA:254857 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial n... |
ORPHA:488627 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... |
OMIM:311250 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, In... |
ORPHA:79282 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepa... |
OMIM:617093 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration of ac... |
ORPHA:391428 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Elevated circ... |
ORPHA:97280 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Lethargy, Neonatal death |
OMIM:610498 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Hyperhomocysti... |
OMIM:277410 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Hyperammonemia, Hypoxemia, Am... |
OMIM:615486 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Proteinuria, Megaloblastic anemia,... |
ORPHA:35858 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, 3-Methylglutaconic aciduria, Hyperammonemia |
OMIM:614739 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Cryptorchidism, Hyperammonemia, Growth delay, Hypertensio... |
OMIM:614052 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Lethargy, Dysphagia |
OMIM:613561 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Amin... |
OMIM:619991 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Severe Canavan Disease |
|
Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia |
OMIM:207800 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Lethargy, Hyperglycinuria |
OMIM:201450 |
Orotic Aciduria |
|
Failure to thrive, Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unre... |
OMIM:258900 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Hyperhomocysti... |
OMIM:614857 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Perit... |
ORPHA:90038 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridgin... |
OMIM:618641 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Oroticaciduria, Low plasma citrulline, Hyperammonemia, Hyperp... |
OMIM:620358 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hyd... |
OMIM:253270 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... |
ORPHA:276556 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Cardiac arrest, Elevated circulating creatine kinase concentration, Acute rhabdomyolys... |
OMIM:616878 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hyperammonemia |
OMIM:620137 |
Hyperlysinemia |
|
Abnormal circulating enzyme concentration or activity, Hyperactivity, Argininuria, Hyperammonemia... |
ORPHA:2203 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia, Hypoornithin... |
OMIM:615751 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... |
OMIM:616733 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Toe extensor amyotrophy, Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Impulsivity, Lethargy, Abnormality of circulati... |
ORPHA:35706 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hyperalaninemia, Lethargy, Hyperprolinemia |
OMIM:619064 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
ORPHA:26792 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... |
ORPHA:276575 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Elevate... |
OMIM:617156 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy |
OMIM:617065 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria |
OMIM:250620 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Bradykinesia, Agitation, Abnormal repetitive mannerisms... |
ORPHA:778 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... |
ORPHA:324575 |
Isovaleric Acidemia |
|
Lethargy, Hyperglycinuria |
OMIM:243500 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er... |
ORPHA:79239 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Hyperglycinuria, Elevated circulating 2-hydroxybutyric acid concentra... |
OMIM:605711 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dysphagia, Hyperphenylalaninemia |
OMIM:233910 |
Citrullinemia, Classic |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Let... |
OMIM:215700 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... |
ORPHA:2388 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... |
OMIM:618278 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Skeletal muscle atrophy, Telangiectasia of the skin, Short... |
ORPHA:100 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Organic aciduria |
OMIM:253260 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio... |
ORPHA:480864 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral r... |
OMIM:301080 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
Cyclic Vomiting Syndrome |
|
Lethargy, Attention deficit hyperactivity disorder, Anorexia |
OMIM:500007 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Elevated circula... |
ORPHA:353 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Sudd... |
OMIM:610198 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron, Lethargy |
OMIM:602390 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Recurrent hand flapping,... |
ORPHA:3008 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Low anterior hairline, Hyperammonemia |
OMIM:613661 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Hyperammonemia, Intrauterine growth retardation |
OMIM:610678 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuria, Short sta... |
ORPHA:1830 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Lethargy, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy |
OMIM:618225 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Agitation |
ORPHA:276608 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatitis, Hyperammonemia, Hyperornithinemia, Decreased liver func... |
ORPHA:415 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Hyperammonemia, Elevated hepatic transaminase |
OMIM:615453 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin... |
OMIM:210200 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Hyperlipidemia |
ORPHA:2089 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Di... |
ORPHA:2785 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... |
OMIM:614748 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... |
OMIM:612736 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice |
ORPHA:205 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal ci... |
ORPHA:79277 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Dysphagia |
OMIM:618226 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Neutropenia, Intrauterine grow... |
OMIM:242900 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lethargy |
OMIM:312170 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Anorexia |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hemolytic-uremic syndrome, Po... |
ORPHA:2169 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Failure to thrive, Myositis, Elevated circulating C-reactive protein con... |
OMIM:615934 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Cystathioninuria, Hyperhomocystin... |
OMIM:277380 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating fatty-acid concentration, Elevated circulatin... |
ORPHA:263455 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Failure to thrive, Absence of lymph node germinal center, T lymphocytope... |
ORPHA:277 |
Alkaptonuria |
|
Mitral valve calcification, Aortic valve calcification, Elevated urinary homogentisic acid, Nephr... |
OMIM:203500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Short stature, Ventricular septal defect, Postn... |
OMIM:620210 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Hypokalemia, Anorexia |
OMIM:611590 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to ... |
OMIM:613179 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Abnormal lactate dehydrogenase level |
ORPHA:54057 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass, Urinary incontinence, Acanthocytosis |
OMIM:234200 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Biotinidase Deficiency |
|
Lethargy, Decreased circulating biotinidase concentration, Hyperammonemia |
ORPHA:79241 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Hyperhomocystinemia, Cy... |
ORPHA:395 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaund... |
OMIM:608885 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy |
OMIM:611523 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse scalp hair, Severe short stature, Small for gestational age, Sparse eyebrow, Anisopoikiloc... |
OMIM:615789 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Cystathioninur... |
OMIM:277400 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Elliptocytosis, Abnor... |
ORPHA:86818 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosi... |
ORPHA:90062 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonat... |
ORPHA:95716 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Highly arched eyebrow, Bicuspid aortic valve, ... |
OMIM:220111 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis... |
ORPHA:549 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Hypercalcemia |
OMIM:143880 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Podoc... |
OMIM:617575 |
Syndromic Diarrhea |
|
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic ... |
ORPHA:84064 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Short stature, Splenomegaly, Cryptorchidism, Spherocytosis... |
ORPHA:251066 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... |
OMIM:618624 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, Hyperkalemia, ... |
OMIM:620366 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C... |
ORPHA:169154 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Short stature, Conjugated hyperbilirubinemia, Postnatal growth reta... |
ORPHA:168577 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Myositis, Raynaud phenomenon, Pericardial... |
ORPHA:93552 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Jaundice, Bicarbonaturia, Hyperuricemia, ... |
OMIM:229600 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Evans Syndrome |
|
Lethargy, Jaundice |
ORPHA:1959 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Hyperalaninemia, Abnormal circulating creatine ... |
OMIM:615838 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophospha... |
ORPHA:469 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Neonatal death, Lethargy, Stillbirth, Decreased liver function |
OMIM:614922 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... |
OMIM:153670 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Cryptorchidism, Hyp... |
OMIM:617053 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Meningococcal Meningitis |
|
Lethargy, Elevated circulating C-reactive protein concentration, Anorexia |
ORPHA:33475 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Short stature, Elevated circulating ... |
ORPHA:79240 |
Maple Syrup Urine Disease |
|
Lethargy, Elevated circulating branched chain amino acid concentration, Elevated circulating L-al... |
OMIM:248600 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... |
OMIM:601214 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Increased circulating ferritin concentration, Elevated transferrin saturatio... |
ORPHA:465508 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Lymphadenitis, Sp... |
OMIM:618935 |
Insulinoma |
|
Lethargy, Polyphagia |
ORPHA:97279 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Short stature, Unilateral renal agenesis, Ectopic kidne... |
OMIM:616541 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Jaundice, Lethargy, Fulminant hepatitis |
OMIM:215600 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c... |
OMIM:613095 |
Amme Complex |
|
Hematuria, Intrauterine growth retardation, Elliptocytosis, Diastasis recti |
OMIM:300194 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hyperglycinemia |
OMIM:614299 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Abnormal circulating thyroglobulin level, Depression, Prolonged neonatal jaundice |
ORPHA:99832 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Vici Syndrome |
|
Atrial septal defect, Failure to thrive, Hypopigmentation of hair, Left ventricular hypertrophy, ... |
OMIM:242840 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hepatitis, Hyperuricemia, Lethargy |
ORPHA:199299 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy |
OMIM:604377 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Decreased serum zinc, Low alkaline phosphatase |
OMIM:201100 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Increased circ... |
ORPHA:556037 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Intrauterine growth ... |
OMIM:619573 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Lethargy |
OMIM:617397 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Elevated circulating C-re... |
OMIM:615688 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, Hypercholester... |
ORPHA:90674 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Typhoid |
|
Lethargy |
ORPHA:99745 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... |
ORPHA:443811 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Dengue Fever |
|
Lethargy, Hypoproteinemia |
ORPHA:99828 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short stature, Synophrys, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Patent foramen ovale,... |
OMIM:300990 |
Ebola Hemorrhagic Fever |
|
Lethargy, Hepatitis, Dysphagia |
ORPHA:319218 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... |
OMIM:614866 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Short stature, Bilateral cryptorchidism, Neutropenia, Intrauterine gro... |
OMIM:616395 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:226316 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Dysphagia |
OMIM:607483 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... |
OMIM:616005 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Myositis, Splenomegaly, Flexion contractur... |
OMIM:617591 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Short stature, Elevated circulating alpha-fetopro... |
OMIM:208900 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Failure to thrive, Tricuspid regurgitation, Short stature, Highly arched ey... |
OMIM:618460 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Bipolar affective disorder, Elevated circulating creatine kinase c... |
ORPHA:254892 |
Acute Radiation Syndrome |
|
Telangiectasia, Hyperkeratosis, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proportion of CD4-positi... |
OMIM:619510 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukope... |
OMIM:127550 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Microscopic hematuria, Elevated circulating C-reactive protein concen... |
ORPHA:319213 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... |
OMIM:605309 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Thrombocytopenia, Congestiv... |
ORPHA:508542 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neona... |
ORPHA:90673 |
Mitochondrial Trifunctional Protein Deficiency |
|
Chronic hepatic failure, Hypocalcemia, Lethargy |
ORPHA:746 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Lethargy, Polyphagia |
ORPHA:398069 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Skin-picking, Polyphagia, Abnormal temper tantrums |
ORPHA:398079 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Familial Hypoaldosteronism |
|
Hyponatremia, Lethargy, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Lymph node hypo... |
ORPHA:276 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Premature graying of hair, Nail dystrophy,... |
OMIM:620365 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Hypocalcemia |
OMIM:607143 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Elevated circulating palmitoleylcarnitine concentration, Lethargy, Hyperhomocy... |
ORPHA:79284 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentra... |
OMIM:620306 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Curly hair, Scapular winging, Short stature, Sparse eyebrow, Cryptorchidism... |
OMIM:619745 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy |
ORPHA:173 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Ogden Syndrome |
|
Lethargy |
ORPHA:276432 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Congestive heart failure... |
ORPHA:391487 |
Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy |
ORPHA:391673 |
Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Atrial septal defect, Severe B lymphocytopenia, Portal hypertension, Thrombocyt... |
OMIM:620005 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Anorexia, Hyperbilirubinemia, Lethargy, Hepatic failure |
OMIM:557000 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Aggressive behavior |
OMIM:618321 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Premature graying of hair, Bone marrow hypocellularity, Nail dystrophy, Abnormally ... |
OMIM:619767 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Eosinophilia, Absc... |
OMIM:615816 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Tongue thrusting |
OMIM:608643 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... |
ORPHA:169160 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Abnormal erythrocyte enzyme level, Jaundice, Dysphagia, Unconjugated hyperb... |
ORPHA:447 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Medulloblastoma |
|
Elevated hepatic transaminase, Lethargy |
ORPHA:616 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... |
ORPHA:1572 |
Trichinellosis |
|
Lethargy, Apathy, Dysphagia |
ORPHA:863 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Conot... |
ORPHA:2306 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Icf Syndrome |
|
Short stature, Abnormality of neutrophils, Macroglossia, Lymphopenia, Anemia |
ORPHA:2268 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Camptodactyly of finger, Sparse axillary hair, Ectopic kidney,... |
ORPHA:2136 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Lethargy |
ORPHA:2609 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopeni... |
OMIM:607944 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, ... |
OMIM:619321 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
Transcobalamin Ii Deficiency |
|
Lethargy |
OMIM:275350 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Abnormality of the k... |
ORPHA:289390 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Myocardial infarction, ... |
ORPHA:96253 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hyperalaninemia, Hepatic failure, Lethargy |
OMIM:252010 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Lethargy |
OMIM:620233 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy, Dysphagia |
ORPHA:306674 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Restlessness |
ORPHA:68 |
Glycerol Kinase Deficiency |
|
Lethargy, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
Semilobar Holoprosencephaly |
|
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy |
ORPHA:93924 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:226307 |
Complete Atrioventricular Septal Defect |
|
Lethargy |
ORPHA:1329 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Fine hair, Lymphopenia, Anemia |
ORPHA:935 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Myocardial infarction, Neoplasm of the thymus, Pituitary ... |
ORPHA:99889 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Hypercalcemia, Anorexia, Depression |
ORPHA:652 |
Histiocytoid Cardiomyopathy |
|
Lethargy |
ORPHA:137675 |
Diamond-Blackfan Anemia |
|
Lethargy, Elevated red cell adenosine deaminase activity |
ORPHA:124 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Tendon xanthomatosi... |
ORPHA:391665 |
Eisenmenger Syndrome |
|
Hyperuricemia, Lethargy, Abnormal B-type natriuretic peptide concentration, Elevated circulating ... |
ORPHA:97214 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |