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Gene: Asl MGI:88084

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
argininosuccinate lyase
Synonyms:
2510006M18Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Asl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Asl by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hyperammonemia ORPHA:23
Argininosuccinic Aciduria
Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, Hyperammonemia,... OMIM:207900

The table below shows human diseases predicted to be associated to Asl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Asl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Asl.

No publications found that use IMPC mice or data for Asl.

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MGI Allele Allele Type Produced
Asltm94933(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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