Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Coma, Dibasicaminoaciduria, Hyperammonemia, Lethargy |
OMIM:238750 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia |
ORPHA:147 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenome... |
ORPHA:85450 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Impulsivity, Lethargy, Restlessness, Hyperglycinuria |
OMIM:605899 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Saccharopinuria |
|
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... |
ORPHA:3124 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Anemia, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Gl... |
ORPHA:97362 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Argininosuccinic aciduria, Coma, Ele... |
OMIM:603471 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Hyperuricemia, Hypotension, Stage 5 ... |
OMIM:174000 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatomegaly, Throm... |
ORPHA:79312 |
N-Acetylglutamate Synthase Deficiency |
|
Coma, Hyperammonemia, Confusion, Lethargy, Increased level of L-glutamic acid in blood |
OMIM:237310 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... |
OMIM:616689 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine ... |
OMIM:300842 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper... |
OMIM:620085 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Coma, Homocitrullinuria, Hyperammonemia, Confusion, Hyperornithinemia, Decreased liver function, ... |
OMIM:238970 |
Lcat Deficiency |
|
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... |
ORPHA:650 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Short stature, Limb hypertonia, Pancytopenia, Fai... |
OMIM:606054 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Failure to thrive, Hyperammonemia, Hepatomegaly, Renal insufficiency |
ORPHA:28 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... |
OMIM:613673 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Thrombo... |
ORPHA:27 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Limb-girdle muscular dystrophy, S... |
ORPHA:96180 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Renal insufficiency, Hyperammonemia, Growth delay, Hepatomegaly, Thrombocytopenia, Neutro... |
ORPHA:289916 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Delirium, Drowsiness, Coma, Acute hyperammonemia, Agitation, Hyperammonemia, Los... |
ORPHA:927 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis... |
ORPHA:340 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,... |
OMIM:242530 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Cerebellar hemorrhage, Hyperglycinemia, Methylmalonic a... |
OMIM:251000 |
Patent Ductus Venosus |
|
Decreased liver function, Hyperammonemia, Hypergalactosemia |
OMIM:601466 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperammonemia... |
OMIM:600649 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Neutropenia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinom... |
OMIM:232220 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste... |
ORPHA:470 |
Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Renal tubular acidosis, Anisopoikilocytosis, Hyperammonemia, Schistocytosis, Acanthocytosis |
OMIM:616457 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated hepatic transaminase, Hyperammonemia, Acute hepatic failure, Lethargy |
OMIM:616483 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... |
ORPHA:93126 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Microvesicular hepatic steatosis, Decreased plasma carnitine, Dicarbo... |
OMIM:212140 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Leukopenia, Anemia, Pulmonary hemorrhage, Intraalveolar phospholipid accumulation,... |
OMIM:222700 |
Primary Hyperoxaluria Type 1 |
|
Anemia, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcin... |
ORPHA:93598 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic coma, Asymptomatic hyperammonemia |
OMIM:606762 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Coma, Elevated hepatic transaminase,... |
OMIM:255120 |
Multiple Carboxylase Deficiency |
|
Coma, Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentration ... |
ORPHA:148 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, EMG: myopathic abnormalities, Hepatic steatosis, Failure to thrive, Myopath... |
ORPHA:71 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Abnormality of the kid... |
ORPHA:1194 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperleucinemia, Coma, Decreased plasma carnitine, Acute hyperammonemia, Hyperammonemia, Propiony... |
OMIM:210210 |
Citrullinemia Type I |
|
Hepatic failure, Coma, Hyperammonemia, Loss of consciousness, Lethargy, Elevated plasma citrulline |
ORPHA:247525 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Decreased body weight, Neutropenia, Abnormality of the liver, Shor... |
ORPHA:1667 |
Propionic Acidemia |
|
Organic aciduria, Hyperammonemia, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Decreased muscle mass, Short stature, Enlarged kidney, Hepatocellular carcinoma, H... |
OMIM:232200 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Rhabdomyolysis, Short stature, Dilated cardiomyopathy, Elevated circ... |
OMIM:618120 |
Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Hep... |
ORPHA:292 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Coma, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamm... |
ORPHA:42 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... |
ORPHA:99901 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc... |
OMIM:300367 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness, Acanthocytosis, Elevated circulating creatine kina... |
OMIM:200150 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt... |
OMIM:615631 |
Citrullinemia Type Ii |
|
Hyperactivity, Delirium, Fluctuations in consciousness, Drowsiness, Coma, Elevated hepatic transa... |
ORPHA:247585 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome... |
OMIM:601198 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Coma, Episodic ammonia intoxication, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoarginin... |
OMIM:237300 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Hyperuricemia, Chronic pancreatitis, Hematuri... |
OMIM:232240 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:236270 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener... |
OMIM:613388 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Mild postnatal growth retardatio... |
OMIM:224120 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Hyperactivity, Lethargy |
OMIM:274270 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic... |
OMIM:614702 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Splenomegaly |
OMIM:271500 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hepatic fibrosis, Cirrhosis, Hyperbilirubinemia,... |
ORPHA:14 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Organic aciduria, Hyperammonemia, Growth delay, Thrombocytopenia |
ORPHA:79242 |
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 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Decreased glomerular f... |
OMIM:618061 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Renal tubular acidosis, Small for gestational age, Type 2 muscle fiber predomina... |
OMIM:615471 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hemolytic anemia, Hypermagnesiuria, Short st... |
ORPHA:18 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric ... |
OMIM:246450 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Acanthocytosis, Orthokeratosis |
OMIM:604777 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Small for gestational age, Cong... |
OMIM:609015 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Renal dysplasia, Elbow flexion contracture, Elevated circulat... |
OMIM:608836 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Microangiopath... |
OMIM:274150 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Coma, Episodic ammonia intoxication, Elevated circulating aspartate aminotransfera... |
OMIM:207900 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cyanosis, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Decrease... |
ORPHA:159 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Asymptomatic hyperammonemia |
ORPHA:35878 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypocholesterol... |
OMIM:615558 |
Abetalipoproteinemia |
|
Acanthocytosis, Abetalipoproteinemia |
OMIM:200100 |
Arthrogryposis Multiplex Congenita 5 |
|
Flexion contracture, Cardiac arrest, Normocytic anemia, Elbow flexion contracture, Medullary neph... |
OMIM:618947 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine conc... |
ORPHA:6 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Agitation, Hy... |
ORPHA:276556 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hypert... |
OMIM:235400 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure, Hyperammonemia, Low plasma citrulline |
OMIM:618567 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pericardial effusion, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase conce... |
ORPHA:26793 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Weakness of facial musculatur... |
OMIM:618416 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia |
ORPHA:23 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Polycystic kidn... |
ORPHA:26791 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Leukopenia, Anemia, Hyperuricemia, Weight loss, Ketonuria, Cardiac arrest, Jaundice,... |
ORPHA:20 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Confusion, Hyperammonemia |
OMIM:620137 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Lathosterolosis |
|
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopo... |
OMIM:607330 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Coma, Decreased plasma carnitine, Elevated hepatic transaminase, Lethargy, Hyperglycinuria |
OMIM:201450 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Pancytopenia, Failure to thrive, Hype... |
OMIM:251110 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Agitation, Hy... |
ORPHA:276575 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hyperammonemia |
OMIM:614111 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia |
ORPHA:1935 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hyperuricemia, Weight loss, Ketonuria, Hypertension, Hyperammonemia, Thrombocytosis,... |
ORPHA:134 |
Sickle Cell Disease |
|
Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hematuria, Increased red cell sickl... |
OMIM:603903 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... |
OMIM:300908 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyo... |
OMIM:619051 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos... |
ORPHA:824 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Pancytopenia, Failure to thrive, Hype... |
OMIM:251100 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating alanine aminotransferase concentration, Coma, Episodic ammonia intoxication,... |
OMIM:311250 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hype... |
ORPHA:288 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hypoornithinemia, Short stature, Hypoprolinemia, Failure to thrive, Hyperammonemia, Cryptorchidis... |
OMIM:219150 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated circulating cre... |
ORPHA:228308 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Agitation, Hy... |
ORPHA:324575 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Confusion, Lethargy |
OMIM:606777 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Developmental And Epileptic Encephalopathy 82 |
|
Hyperammonemia, Decreased body weight, Short stature |
OMIM:618721 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:617049 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatos... |
ORPHA:231214 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Hypoxe... |
ORPHA:71275 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Lethargy, Elevated hepatic transaminase, Increased serum pyruvate |
OMIM:246900 |
Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Elevated hepatic transaminase, ... |
ORPHA:79230 |
Glucagonoma |
|
Intermittent jaundice, Acanthocytosis, Increased circulating prolactin concentration, Extrahepati... |
ORPHA:97280 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Abnormal renal tubule morphology, Hyperammonemia, Growth delay, Hypertrophic cardiomyopathy |
OMIM:611719 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Drowsiness, Agitation, Hypoglycemic coma, Polyphagia, Loss of consciou... |
ORPHA:276580 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Short stature, Hyperbilirubinemia, Poikilocytosis,... |
ORPHA:98870 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Brittle hair, Sideroblastic anemia, Hypochromic microcytic anem... |
OMIM:616084 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Lethargy |
ORPHA:254857 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hyperhomocystinemia, Subdural hemorrhage, Thrombocytop... |
ORPHA:79282 |
Dihydropyrimidinase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Elevated circulating dihydrouracil concentration, ... |
OMIM:222748 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Cyanosis, Nephrotic syndrome, Decreased glomerular filtration rate,... |
ORPHA:488627 |
Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Anemia, Intraalveolar phospholipid accumulation, Hepatic fibrosis, Cirrhosis, Hypo... |
OMIM:615486 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Elevated hepatic transaminase |
OMIM:610498 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277410 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Vitreous hemorrhage, Reduced hematocrit, Renal Fanco... |
ORPHA:91500 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary ... |
ORPHA:391428 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Small for gestational age, Hypertension, Failure to... |
OMIM:614052 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... |
ORPHA:35858 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... |
OMIM:613090 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Elevated hepatic transaminase, Dysphagia |
OMIM:613561 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Coma, Elevated hepatic transaminase, Transient hyperlipidemia, Loss of conscious... |
ORPHA:156 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Bradykinesia |
OMIM:618683 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hyperammonemia |
OMIM:614739 |
Isovaleric Acidemia |
|
Coma, Lethargy, Hyperglycinuria |
OMIM:243500 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Portal inflammation, Elevated ... |
OMIM:619991 |
Infantile Liver Failure Syndrome 3 |
|
Short stature, Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasi... |
OMIM:618641 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Coma, Lethargy, Agitation, Drowsiness |
ORPHA:276608 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Hypoglutaminemia, Camptodactyly, Hyperammonemia, Bradycardia |
OMIM:610015 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Microa... |
ORPHA:90038 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Severe Canavan Disease |
|
Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, 3-hydroxyisovaleric aciduria, Organic aciduria, Hyperammonemia, Elevated urinary 3-meth... |
OMIM:253270 |
Central Diabetes Insipidus |
|
Excessive daytime somnolence, Lethargy, Polydipsia, Hyponatremia |
ORPHA:178029 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:614857 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Jaundice, Hyperammonemia, Hyperprolinemia, Lethargy, Hypernatr... |
OMIM:615751 |
Thrombotic Thrombocytopenic Purpura |
|
Coma, Abnormal lactate dehydrogenase level, Confusion, Decreased serum creatinine |
ORPHA:54057 |
Hyperlysinemia |
|
Hyperlysinemia, Hyperlysinuria, Hypoornithinemia, Hyperactivity, Abnormal circulating enzyme conc... |
ORPHA:2203 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Ketonuria, ... |
OMIM:616878 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Hematuria, Atrial septal d... |
OMIM:258900 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Coma, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase |
OMIM:615453 |
Glutaric Acidemia Type 3 |
|
Impulsivity, Lethargy, Elevated circulating glutaric acid concentration, Abnormality of circulati... |
ORPHA:35706 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Renal dysplasia, Small for gestational age, Left ventricular hypertrophy, Hy... |
OMIM:616733 |
Citrullinemia, Classic |
|
Coma, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Lethargy, Elevated plasma c... |
OMIM:215700 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... |
ORPHA:300298 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Toe extensor amyotrophy, Acanthocytosis, Abetalipoproteinemia |
ORPHA:157850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Hyperalaninemia, Elevated hepatic transaminase, Hyperprolinemia |
OMIM:619064 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase,... |
OMIM:617156 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
ORPHA:26792 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy |
OMIM:617065 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Lethargy |
OMIM:250620 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia, Hyperargininemia, Hyperactivity |
OMIM:207800 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Coma, Elevated hepatic transaminase, Hyperammonemia, Hyperornithinemi... |
ORPHA:415 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Neonatal de... |
OMIM:605711 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Biotinidase Deficiency |
|
Alopecia, Organic aciduria, Hyperammonemia, Hepatomegaly, Splenomegaly |
OMIM:253260 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasi... |
ORPHA:100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... |
OMIM:618278 |
Galactosemia |
|
Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal e... |
ORPHA:352 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia, Dysphagia |
OMIM:233910 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Coma, Lethargy, Acute hyperammonemia |
OMIM:210200 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Abnormal EKG, Ketonuria, Elevated circulating c... |
ORPHA:480864 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Lethargy |
ORPHA:71277 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Microvesicular... |
OMIM:610198 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... |
OMIM:604250 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Muscle fiber atrophy, Weight loss, Abnormal erythrocyte enzyme level, Di... |
ORPHA:2388 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
Glycerol Kinase Deficiency |
|
Lethargy, Hypertriglyceridemia, Coma, Loss of consciousness |
OMIM:307030 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Elevated cir... |
OMIM:210250 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... |
ORPHA:353 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Hyperammonemia, Low anterior hairline |
OMIM:613661 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Drowsiness, Coma, Elevated hepatic transaminase, Abnormal circulating fatty-acid concentration, A... |
ORPHA:263455 |
Hemochromatosis, Type 2A |
|
Lethargy, Increased circulating ferritin concentration, Increased serum iron |
OMIM:602390 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hyperammonemia, Intrauterine growth retardation, Hepatomegaly |
OMIM:610678 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Alopecia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive ... |
OMIM:301080 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Ischemic stroke, Bone marrow hypocellularity, Hyperlipidemia, Thromb... |
ORPHA:1830 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Classic Galactosemia |
|
Hepatic failure, Jaundice, Abnormal erythrocyte enzyme level, Elevated hepatic transaminase, Abno... |
ORPHA:79239 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased serum pyruvate |
OMIM:618225 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Rett Syndrome |
|
Agitation, Hyperammonemia, Increased serum pyruvate, Bradykinesia |
ORPHA:778 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Renal tubular acidosis, Short stature, Ellip... |
ORPHA:2785 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:2089 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Sparse eyebrow, Sparse scalp hair, Nephrotic syndrome, Fine hair, Decrease... |
OMIM:614748 |
Schimke Immunoosseous Dysplasia |
|
Coarse hair, Thrombocytopenia, Disproportionate short-trunk short stature, Stage 5 chronic kidney... |
OMIM:242900 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:619468 |
Crigler-Najjar Syndrome |
|
Jaundice, Lethargy |
ORPHA:205 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Porphyrinuri... |
ORPHA:79277 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methionine synthase activity, Cystathioninemia, Methylmalonic acidemia, Cystathioninuri... |
OMIM:277400 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Hyperalaninemia, Increased serum pyruvate |
OMIM:312170 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Dysphagia |
OMIM:618226 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Myositis, Failure to thrive,... |
OMIM:615934 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Dilated cardiomyopa... |
OMIM:610505 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated hepatic transaminase, Elevated circulating creatinine con... |
OMIM:614817 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Lacticaciduria, Failure to th... |
ORPHA:3008 |
Cyclic Vomiting Syndrome |
|
Lethargy, Attention deficit hyperactivity disorder |
OMIM:500007 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Hyperhomocystinemia, Hypomet... |
ORPHA:2169 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Recurrent urinary tract infections |
OMIM:300988 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Atrial septal defect, Lymphopenia |
OMIM:614868 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Decreased methionine synthase activity, Cystathioninemia, Methylmalonic acidemia, Cystathioninuri... |
OMIM:277380 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Ab... |
ORPHA:277 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Alkaptonuria |
|
Thickened Achilles tendon, Elevated urinary homogentisic acid, Decreased glomerular filtration ra... |
OMIM:203500 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Insulinoma |
|
Fluctuations in consciousness, Coma, Polyphagia, Reduced consciousness/confusion, Lethargy |
ORPHA:97279 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antib... |
OMIM:613179 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia |
ORPHA:101150 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly |
OMIM:619164 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Short stature, Spherocytosis |
ORPHA:66518 |
Biotinidase Deficiency |
|
Lethargy, Decreased circulating biotinidase concentration, Hyperammonemia |
ORPHA:79241 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Myopathy, Acanthocytosis, Decreased muscle mass |
OMIM:234200 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia, Abnormal circulating enzyme concentrati... |
ORPHA:395 |
Acute Liver Failure |
|
Hypotension, Hypocapnia, Acute kidney injury, Hepatocellular necrosis, Hepatic necrosis, Jaundice... |
ORPHA:90062 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Short stature, Jaundice, Hyperkalemia, Growth delay, Hepatomega... |
OMIM:608885 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy |
OMIM:611523 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Anemia, Sparse scalp hair, Decreased body weight, Small for gestational age, Anis... |
OMIM:615789 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Elliptocytosis, Abnormal aortic valve morphology, Proteinuria, Abnormal hair morp... |
ORPHA:86818 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Hyperuricemia, Coma, Hypophosphatemia, Jaundice, Chro... |
ORPHA:469 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemi... |
ORPHA:95716 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis, Anemia |
OMIM:619835 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia |
ORPHA:169079 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Microvesicular hepatic steatosis, Ketonuria, Small for gest... |
OMIM:220111 |
Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:615838 |
Maple Syrup Urine Disease |
|
Coma, Elevated plasma branched chain amino acids, Lethargy, Elevated circulating L-alloisoleucine... |
OMIM:248600 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Legionnaires Disease |
|
Hypotension, Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditi... |
ORPHA:549 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Hypercalcemia |
OMIM:143880 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e... |
OMIM:617575 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Abnormality of iron homeostasis, Hepatoblastoma, Hepatomegaly, Splenome... |
ORPHA:84064 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Short stature, Mitral valve prolapse, Hypoplasia of penis, Atrial septal defect... |
ORPHA:251066 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Ventricular septal defect, Lymphopenia, Su... |
OMIM:618624 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Short stature, Jaundice, Hepatosplenomegaly, Conjug... |
ORPHA:168577 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... |
ORPHA:169154 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperuricemia, Coma, Hypophosphatemia, Jaundice, Elevated hepatic transa... |
OMIM:229600 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Alopecia, Nephrotic syndrome, Pericardial effusion, Microangiopathic hemolytic anemia... |
ORPHA:93552 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Transcobalamin Deficiency |
|
Acute kidney injury, Pancytopenia, Lymphopenia, Thrombocytopenia, Methylmalonic aciduria, Neutrop... |
ORPHA:859 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Epistaxis, Thrombocytopenia, Increased mean plate... |
OMIM:153670 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Per... |
ORPHA:90362 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He... |
OMIM:612541 |
Evans Syndrome |
|
Jaundice, Lethargy |
ORPHA:1959 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hyperhomocystinemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ... |
OMIM:617780 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Jaundice, Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Avian Influenza |
|
Leukopenia, Rhabdomyolysis, Acute kidney injury, Hepatitis, Hypoxemia, Congestive heart failure, ... |
ORPHA:454836 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Short stature, Microphallus, Recurrent urinary tract i... |
OMIM:617053 |
Lathosterolosis |
|
Anisopoikilocytosis, Hypoplasia of penis, Intrahepatic cholestasis, Failure to thrive, Abnormal p... |
ORPHA:46059 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Lymphopenia, Facial palsy |
OMIM:182410 |
Susac Syndrome |
|
Confusion, Lethargy |
ORPHA:838 |
Meningococcal Meningitis |
|
Reduced consciousness/confusion, Lethargy, Elevated circulating C-reactive protein concentration,... |
ORPHA:33475 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Idiopathic Intracranial Hypertension |
|
Lethargy |
ORPHA:238624 |
Dopa-Responsive Dystonia |
|
Lethargy |
ORPHA:255 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Short stature, Limb-girdle muscle we... |
ORPHA:79240 |
Elliptocytosis 3 |
|
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... |
OMIM:617948 |
Staphylococcal Necrotizing Pneumonia |
|
Confusion, Lethargy, Alcoholism, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Lethargy |
OMIM:611590 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma, Short stature, ... |
OMIM:618935 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Jaundice, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta... |
OMIM:613095 |
Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
Naxos Disease |
|
Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body... |
OMIM:601214 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Jaundice, Lethargy, Fulminant hepatitis |
OMIM:215600 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Typhoid |
|
Coma, Lethargy |
ORPHA:99745 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Anemia, Short stature, Intrauterine growth retardation,... |
OMIM:616541 |
Amme Complex |
|
Elliptocytosis, Diastasis recti, Hematuria, Intrauterine growth retardation |
OMIM:300194 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Coma, Confusion, Lethargy, Dysphagia |
OMIM:607483 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hyperglycinemia |
OMIM:614299 |
Vici Syndrome |
|
Leukopenia, Penile hypospadias, T lymphocytopenia, Albinism, Left ventricular hypertrophy, Conges... |
OMIM:242840 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Chronic hepatic failure, Increa... |
ORPHA:465508 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Increased serum pyruvate |
OMIM:604377 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Visceral Steatosis, Congenital |
|
Neonatal death, Coma, Jaundice, Hypocalcemia, Lethargy |
OMIM:228100 |
Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Decreased proportion of CD4-positive T cells, Hepatic steatosis, B... |
OMIM:619573 |
Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to th... |
ORPHA:556037 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Lethargy |
OMIM:614922 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Renal artery aneurysm, Raynaud phenomenon, Hypertension, Pancytopenia, Hepato... |
OMIM:615688 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Low alkaline phosphatase, Lethargy, Decreased serum zinc |
OMIM:201100 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Short stature... |
ORPHA:443811 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating phytanic acid c... |
OMIM:614866 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Elevated hepatic transaminase |
OMIM:617397 |
Dengue Fever |
|
Lethargy, Hypoproteinemia |
ORPHA:99828 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Trichorrhexis nodosa, Short stature, Brittle hair, Bilateral cryptorchidism, ... |
OMIM:616395 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Lethargy, Dysphagia |
ORPHA:319218 |
Mitochondrial Trifunctional Protein Deficiency |
|
Coma, Hypocalcemia, Lethargy, Chronic hepatic failure |
ORPHA:746 |
Pearson Syndrome |
|
Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Bone marrow hypocellulari... |
ORPHA:699 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent foramen ovale, Anemia, Short stature, Renal dysplasia, Elliptocytosis, Synophrys, Nephroca... |
OMIM:300990 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... |
OMIM:616005 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Lymphopenia, Myositis, Failure to thrive, Lymphadenopathy, Hepatomeg... |
OMIM:617591 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Scrub Typhus |
|
Reduced consciousness/confusion, Lethargy |
ORPHA:83317 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Lethargy |
ORPHA:99832 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Alopecia, Cirrhosis, Premature graying of hair, Hepatic necrosis, Lymphopenia... |
OMIM:127550 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym... |
ORPHA:331206 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Lethargy |
ORPHA:226316 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Short stature, Acute lymphoblastic leukemia, Lymphop... |
OMIM:208900 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Hyperkalemia, Hypercalcemia, Hyponatremia, Lethargy |
ORPHA:199299 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short statur... |
ORPHA:508542 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Attention deficit hyperact... |
ORPHA:90674 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Lethargy |
OMIM:229700 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Loss of consciousness, Hyponatremia, Hypocalcemia,... |
ORPHA:173 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Growth delay, Decreased propor... |
OMIM:619510 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Fulminant hepatitis, Lymphopenia, Shock, Thrombocytopenia, ... |
ORPHA:319213 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Anemia, Patent foramen ovale, Tricuspid regurgitation, Short stature, Join... |
OMIM:618460 |
Ogden Syndrome |
|
Excessive daytime somnolence, Lethargy |
ORPHA:276432 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Lymphopenia, Penile freckling, Hydrocele testis, Hepatomegaly, Coarse ... |
OMIM:605309 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... |
ORPHA:276 |
Familial Hypoaldosteronism |
|
Lethargy, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinem... |
ORPHA:90673 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Anemia, Absent pubertal growth spurt, Fair hair, Sparse facial hair, Lymphopenia,... |
OMIM:250250 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Hypomethi... |
ORPHA:79284 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Noonan Syndrome 14 |
|
Sparse eyebrow, Curly hair, Short stature, Mitral valve prolapse, Lymphopenia, Aortic regurgitati... |
OMIM:619745 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Ventricular septal defect, Interface hepatitis, Lymphopenia, Impaired l... |
OMIM:243150 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Shor... |
ORPHA:391487 |
Trichinellosis |
|
Excessive daytime somnolence, Dysphagia, Reduced consciousness/confusion, Confusion, Lethargy |
ORPHA:863 |
Necrotizing Enterocolitis |
|
Lethargy, Hyponatremia |
ORPHA:391673 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Anemia, Hepatic fibrosis, Exocrine pancrea... |
OMIM:620005 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Dysphagia, Let... |
ORPHA:254892 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Premature graying of hair, Abnormally low T cell receptor excision circle level, Pancytopenia, Ly... |
OMIM:619767 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Hematemesis, Thrombocytopenia, In... |
ORPHA:906 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Severe B lymphocy... |
OMIM:102700 |
Cyclic Neutropenia |
|
Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n... |
ORPHA:2686 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Lymphopenia, Vasculitis in the skin, ... |
OMIM:615816 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:266900 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Decreased serum iron, Abnor... |
ORPHA:447 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Polyphagia |
ORPHA:398079 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Lethargy, Polyphagia |
ORPHA:398069 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Hyperphosphatemia, Delirium, Hyperkalemia, Elevated circulating creatine kinase ... |
ORPHA:466650 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenop... |
ORPHA:1572 |
Encephalitis Lethargica |
|
Coma, Lethargy |
ORPHA:83600 |
Medulloblastoma |
|
Lethargy, Elevated hepatic transaminase |
ORPHA:616 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Raynaud phenomenon, Jaundice, Lymphopenia, Cho... |
OMIM:613471 |
Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic valve, Lymphopenia, Aorti... |
ORPHA:2306 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Amoebiasis Due To Free-Living Amoebae |
|
Coma, Loss of consciousness, Confusion, Lethargy, Restlessness |
ORPHA:68 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Lethargy, Elevated hepatic transaminase, Hyperbilirubinemia |
OMIM:557000 |
Immunodeficiency 55 |
|
Short stature, Lymphopenia, Lymphadenopathy, Intrauterine growth retardation, Neutropenia, Absent... |
OMIM:617827 |
Icf Syndrome |
|
Anemia, Short stature, Macroglossia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy |
OMIM:618321 |
Hennekam Syndrome |
|
Camptodactyly of finger, Pericardial effusion, Sparse axillary hair, Pulmonary lymphangiectasia, ... |
ORPHA:2136 |
Immunodeficiency 31C |
|
Weight loss, Short stature, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutin... |
OMIM:614162 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Flexion contracture, Short stature, Azotemia, Decreased testicular size, Hepatic steato... |
OMIM:619321 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Lethargy, Hepatic failure, Hyperalaninemia, Coma |
OMIM:252010 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Short stature, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:607944 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
Isolated Complex I Deficiency |
|
Lethargy, Increased serum pyruvate |
ORPHA:2609 |
Transcobalamin Ii Deficiency |
|
Lethargy |
OMIM:275350 |
Wiskott-Aldrich Syndrome |
|
Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ... |
OMIM:301000 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Abnormalit... |
ORPHA:289390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Sparse scalp hair, Capillary fragility, Decreased eosinophi... |
ORPHA:96253 |
Kufor-Rakeb Syndrome |
|
Confusion, Lethargy, Bradykinesia, Dysphagia |
ORPHA:306674 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Fusariosis |
|
Brain abscess, Abnormality of the liver, Granuloma, Abnormality of the kidney, Peritonitis, Lung ... |
ORPHA:228119 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Drowsiness, Loss of consciousness |
ORPHA:137675 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia... |
ORPHA:90363 |
Complete Atrioventricular Septal Defect |
|
Lethargy |
ORPHA:1329 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia, Lethargy |
OMIM:218700 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Lethargy |
ORPHA:226307 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Abnormality of the pancreas, Fine hair, Lymphopenia, White hair |
ORPHA:935 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Capillary fragility, Decrea... |
ORPHA:99889 |
Multiple Endocrine Neoplasia Type 1 |
|
Coma, Decreased vigilance, Hypercalcemia, Confusion, Lethargy |
ORPHA:652 |
Homozygous Familial Hypercholesterolemia |
|
Renal steatosis, Hypercholesterolemia, Sudden cardiac death, Abnormal tendon morphology, Tendon x... |
ORPHA:391665 |
Pineoblastoma |
|
Reduced consciousness/confusion, Lethargy |
ORPHA:251909 |
Semilobar Holoprosencephaly |
|
Lethargy, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Lethargy, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Lethargy, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Lethargy, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:93924 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Blackfan-Diamond Anemia |
|
Lethargy, Elevated red cell adenosine deaminase level |
ORPHA:124 |
Eisenmenger Syndrome |
|
Lethargy, Abnormal B-type natriuretic peptide concentration, Hyperuricemia, Elevated circulating ... |
ORPHA:97214 |
Whim Syndrome |
|
Lymphadenitis, Abnormality of neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Parotitis,... |
ORPHA:51636 |
Charge Syndrome |
|
Gonadotropin deficiency, Secundum atrial septal defect, Parathyroid hypoplasia, Hypoparathyroidis... |
OMIM:214800 |