Not currently registered for phenotyping at IMPC

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

Gene Summary

argininosuccinate lyase

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
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
Diaminoaciduria, Hyperammonemia ORPHA:90
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
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
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
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
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
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
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
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
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, 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
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
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
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
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
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
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
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
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Mirage Syndrome
Leukopenia, Anemia, Decreased body weight, Short stature, Microphallus, Recurrent urinary tract i... OMIM:617053
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
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
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
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
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
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
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
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
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
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
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


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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