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Gene: Asl MGI:88084

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.

Human diseases associated with Asl (2 diseases)
Human diseases predicted to be associated with Asl (486 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Argininosuccinic Aciduria		Aminoaciduria, Coma, Episodic ammonia intoxication, Elevated circulating aspartate aminotransfera...	OMIM:207900
Argininosuccinic Aciduria		Aminoaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia	ORPHA:23

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

Disease	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
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Saccharopinuria	Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri...	ORPHA:3124
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Anemia, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Gl...	ORPHA:97362
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Argininosuccinic aciduria, Coma, Ele...	OMIM:603471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Hyperuricemia, Hypotension, Stage 5 ...	OMIM:174000
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Renal insufficiency, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatomegaly, Throm...	ORPHA:79312
N-Acetylglutamate Synthase Deficiency	Coma, Hyperammonemia, Confusion, Lethargy, Increased level of L-glutamic acid in blood	OMIM:237310
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop...	OMIM:616689
Mcleod Syndrome	Reduced haptoglobin level, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine ...	OMIM:300842
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper...	OMIM:620085
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Coma, Homocitrullinuria, Hyperammonemia, Confusion, Hyperornithinemia, Decreased liver function, ...	OMIM:238970
Lcat Deficiency	Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre...	ORPHA:650
Propionic Acidemia	Cerebellar hemorrhage, Anemia, Hyperglycinemia, Short stature, Limb hypertonia, Pancytopenia, Fai...	OMIM:606054
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Failure to thrive, Hyperammonemia, Hepatomegaly, Renal insufficiency	ORPHA:28
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy...	OMIM:613673
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki...	ORPHA:730
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Thrombo...	ORPHA:27
Maternal Uniparental Disomy Of Chromosome 4	Decreased LDL cholesterol concentration, Decreased body weight, Limb-girdle muscular dystrophy, S...	ORPHA:96180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Renal insufficiency, Hyperammonemia, Growth delay, Hepatomegaly, Thrombocytopenia, Neutro...	ORPHA:289916
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperalaninemia, Delirium, Drowsiness, Coma, Acute hyperammonemia, Agitation, Hyperammonemia, Los...	ORPHA:927
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr...	ORPHA:2260
Hemorrhagic Fever-Renal Syndrome	Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis...	ORPHA:340
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran...	ORPHA:766
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,...	OMIM:242530
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Leukopenia, Cerebellar hemorrhage, Hyperglycinemia, Methylmalonic a...	OMIM:251000
Patent Ductus Venosus	Decreased liver function, Hyperammonemia, Hypergalactosemia	OMIM:601466
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperammonemia...	OMIM:600649
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Orthostatic Hypotension 2	Orthostatic hypotension, Anemia, Decreased glomerular filtration rate	OMIM:618182
Glycogen Storage Disease Ib	Hyperuricemia, Neutropenia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinom...	OMIM:232220
Lysinuric Protein Intolerance	Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste...	ORPHA:470
Developmental And Epileptic Encephalopathy 50	Anemia, Renal tubular acidosis, Anisopoikilocytosis, Hyperammonemia, Schistocytosis, Acanthocytosis	OMIM:616457
Infantile Liver Failure Syndrome 2	Jaundice, Elevated hepatic transaminase, Hyperammonemia, Acute hepatic failure, Lethargy	OMIM:616483
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas...	ORPHA:93126
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Microvesicular hepatic steatosis, Decreased plasma carnitine, Dicarbo...	OMIM:212140
Spherocytosis, Type 2	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp...	OMIM:616649
Lysinuric Protein Intolerance	Aminoaciduria, Leukopenia, Anemia, Pulmonary hemorrhage, Intraalveolar phospholipid accumulation,...	OMIM:222700
Primary Hyperoxaluria Type 1	Anemia, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcin...	ORPHA:93598
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic coma, Asymptomatic hyperammonemia	OMIM:606762
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Coma, Elevated hepatic transaminase,...	OMIM:255120
Multiple Carboxylase Deficiency	Coma, Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentration ...	ORPHA:148
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype...	OMIM:619386
Chylomicron Retention Disease	Hypertriglyceridemia, EMG: myopathic abnormalities, Hepatic steatosis, Failure to thrive, Myopath...	ORPHA:71
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc...	ORPHA:2394
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Abnormality of the kid...	ORPHA:1194
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperleucinemia, Coma, Decreased plasma carnitine, Acute hyperammonemia, Hyperammonemia, Propiony...	OMIM:210210
Citrullinemia Type I	Hepatic failure, Coma, Hyperammonemia, Loss of consciousness, Lethargy, Elevated plasma citrulline	ORPHA:247525
Wolcott-Rallison Syndrome	Double outlet right ventricle, Decreased body weight, Neutropenia, Abnormality of the liver, Shor...	ORPHA:1667
Propionic Acidemia	Organic aciduria, Hyperammonemia, Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:35
Glycogen Storage Disease Ia	Hyperuricemia, Decreased muscle mass, Short stature, Enlarged kidney, Hepatocellular carcinoma, H...	OMIM:232200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Rhabdomyolysis, Short stature, Dilated cardiomyopathy, Elevated circ...	OMIM:618120
Congenital Enterovirus Infection	Hypotension, Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Hep...	ORPHA:292
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Coma, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamm...	ORPHA:42
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De...	ORPHA:99901
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc...	OMIM:300367
Choreoacanthocytosis	Skeletal muscle atrophy, Limb muscle weakness, Acanthocytosis, Elevated circulating creatine kina...	OMIM:200150
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt...	OMIM:615631
Citrullinemia Type Ii	Hyperactivity, Delirium, Fluctuations in consciousness, Drowsiness, Coma, Elevated hepatic transa...	ORPHA:247585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome...	OMIM:601198
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Coma, Episodic ammonia intoxication, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoarginin...	OMIM:237300
Glycogen Storage Disease Ic	Pulmonary arterial hypertension, Spider hemangioma, Hyperuricemia, Chronic pancreatitis, Hematuri...	OMIM:232240
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:236270
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener...	OMIM:613388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat...	OMIM:162000
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Mild postnatal growth retardatio...	OMIM:224120
Dihydropyrimidine Dehydrogenase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Hyperactivity, Lethargy	OMIM:274270
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic...	OMIM:614702
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Splenomegaly	OMIM:271500
Abetalipoproteinemia	Anemia, Decreased LDL cholesterol concentration, Hepatic fibrosis, Cirrhosis, Hyperbilirubinemia,...	ORPHA:14
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Holocarboxylase Synthetase Deficiency	Alopecia, Weight loss, Organic aciduria, Hyperammonemia, Growth delay, Thrombocytopenia	ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Hyperammonemia, Neutropenia, Sparse hair, Intrauterine gr...	OMIM:618253
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Decreased glomerular f...	OMIM:618061
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Dicarboxylic aciduria, Elev...	OMIM:212138
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Renal tubular acidosis, Small for gestational age, Type 2 muscle fiber predomina...	OMIM:615471
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hemolytic anemia, Hypermagnesiuria, Short st...	ORPHA:18
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre...	OMIM:615234
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric ...	OMIM:246450
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Acanthocytosis, Orthokeratosis	OMIM:604777
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell...	OMIM:201475
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Small for gestational age, Cong...	OMIM:609015
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Renal dysplasia, Elbow flexion contracture, Elevated circulat...	OMIM:608836
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Microangiopath...	OMIM:274150
Argininosuccinic Aciduria	Aminoaciduria, Coma, Episodic ammonia intoxication, Elevated circulating aspartate aminotransfera...	OMIM:207900
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cyanosis, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Decrease...	ORPHA:159
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Asymptomatic hyperammonemia	ORPHA:35878
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypocholesterol...	OMIM:615558
Abetalipoproteinemia	Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Arthrogryposis Multiplex Congenita 5	Flexion contracture, Cardiac arrest, Normocytic anemia, Elbow flexion contracture, Medullary neph...	OMIM:618947
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine conc...	ORPHA:6
Hyperinsulinism Due To Ucp2 Deficiency	Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Agitation, Hy...	ORPHA:276556
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hypert...	OMIM:235400
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure, Hyperammonemia, Low plasma citrulline	OMIM:618567
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pericardial effusion, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase conce...	ORPHA:26793
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun...	ORPHA:3202
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Elevated circulating creatine kinase concentration, Weakness of facial musculatur...	OMIM:618416
Argininosuccinic Aciduria	Aminoaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia	ORPHA:23
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Polycystic kidn...	ORPHA:26791
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Leukopenia, Anemia, Hyperuricemia, Weight loss, Ketonuria, Cardiac arrest, Jaundice,...	ORPHA:20
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Confusion, Hyperammonemia	OMIM:620137
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas...	ORPHA:71212
Immunodeficiency 18	Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Lathosterolosis	Bilobate gallbladder, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopo...	OMIM:607330
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Coma, Decreased plasma carnitine, Elevated hepatic transaminase, Lethargy, Hyperglycinuria	OMIM:201450
Methylmalonic Aciduria, Cblb Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Pancytopenia, Failure to thrive, Hype...	OMIM:251110
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Agitation, Hy...	ORPHA:276575
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Beta-Ketothiolase Deficiency	Hypotension, Hyperuricemia, Weight loss, Ketonuria, Hypertension, Hyperammonemia, Thrombocytosis,...	ORPHA:134
Sickle Cell Disease	Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hematuria, Increased red cell sickl...	OMIM:603903
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly...	OMIM:300908
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyo...	OMIM:619051
Primary Myelofibrosis	Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos...	ORPHA:824
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Pancytopenia, Failure to thrive, Hype...	OMIM:251100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating alanine aminotransferase concentration, Coma, Episodic ammonia intoxication,...	OMIM:311250
Hereditary Elliptocytosis	Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hype...	ORPHA:288
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Short stature, Hypoprolinemia, Failure to thrive, Hyperammonemia, Cryptorchidis...	OMIM:219150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated circulating cre...	ORPHA:228308
Hyperinsulinism Due To Hnf1A Deficiency	Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Agitation, Hy...	ORPHA:324575
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Confusion, Lethargy	OMIM:606777
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Developmental And Epileptic Encephalopathy 82	Hyperammonemia, Decreased body weight, Short stature	OMIM:618721
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ...	OMIM:617049
Beta-Thalassemia Major	Abnormality of iron homeostasis, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatos...	ORPHA:231214
Rh Deficiency Syndrome	Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Hypoxe...	ORPHA:71275
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Lethargy, Elevated hepatic transaminase, Increased serum pyruvate	OMIM:246900
Hemochromatosis Type 2	Abnormality of iron homeostasis, Elevated transferrin saturation, Elevated hepatic transaminase, ...	ORPHA:79230
Glucagonoma	Intermittent jaundice, Acanthocytosis, Increased circulating prolactin concentration, Extrahepati...	ORPHA:97280
Combined Oxidative Phosphorylation Deficiency 5	Abnormal renal tubule morphology, Hyperammonemia, Growth delay, Hypertrophic cardiomyopathy	OMIM:611719
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Drowsiness, Agitation, Hypoglycemic coma, Polyphagia, Loss of consciou...	ORPHA:276580
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased total iron binding capacity, Short stature, Hyperbilirubinemia, Poikilocytosis,...	ORPHA:98870
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, B lymphocytopenia, Brittle hair, Sideroblastic anemia, Hypochromic microcytic anem...	OMIM:616084
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Lethargy	ORPHA:254857
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hemolytic-uremic syndrome, Glomerulopathy, Hyperhomocystinemia, Subdural hemorrhage, Thrombocytop...	ORPHA:79282
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Elevated circulating dihydrouracil concentration, ...	OMIM:222748
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Lethargy	OMIM:617900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Cyanosis, Nephrotic syndrome, Decreased glomerular filtration rate,...	ORPHA:488627
Marburg Hemorrhagic Fever	Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S...	ORPHA:99826
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Interstitial Lung And Liver Disease	Aminoaciduria, Anemia, Intraalveolar phospholipid accumulation, Hepatic fibrosis, Cirrhosis, Hypo...	OMIM:615486
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Elevated hepatic transaminase	OMIM:610498
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o...	ORPHA:67044
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:277410
Tubulointerstitial Nephritis And Uveitis Syndrome	Tubulointerstitial nephritis, Aminoaciduria, Vitreous hemorrhage, Reduced hematocrit, Renal Fanco...	ORPHA:91500
Hsd10 Disease, Infantile Type	Cyanosis, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary ...	ORPHA:391428
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Hyperalaninemia, Small for gestational age, Hypertension, Failure to...	OMIM:614052
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu...	ORPHA:35858
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H...	OMIM:613090
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Elevated hepatic transaminase, Dysphagia	OMIM:613561
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Lethargy	OMIM:613002
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Coma, Elevated hepatic transaminase, Transient hyperlipidemia, Loss of conscious...	ORPHA:156
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr...	OMIM:615897
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri...	ORPHA:822
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, 3-Methylglutaconic aciduria, Hyperammonemia	OMIM:614739
Isovaleric Acidemia	Coma, Lethargy, Hyperglycinuria	OMIM:243500
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...	OMIM:206200
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Portal inflammation, Elevated ...	OMIM:619991
Infantile Liver Failure Syndrome 3	Short stature, Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasi...	OMIM:618641
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Coma, Lethargy, Agitation, Drowsiness	ORPHA:276608
Glutamine Deficiency, Congenital	Flexion contracture, Hypoglutaminemia, Camptodactyly, Hyperammonemia, Bradycardia	OMIM:610015
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Microa...	ORPHA:90038
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Severe Canavan Disease	Lethargy, Oral-pharyngeal dysphagia	ORPHA:314911
Holocarboxylase Synthetase Deficiency	Alopecia, 3-hydroxyisovaleric aciduria, Organic aciduria, Hyperammonemia, Elevated urinary 3-meth...	OMIM:253270
Central Diabetes Insipidus	Excessive daytime somnolence, Lethargy, Polydipsia, Hyponatremia	ORPHA:178029
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:614857
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hypoornithinemia, Jaundice, Hyperammonemia, Hyperprolinemia, Lethargy, Hypernatr...	OMIM:615751
Thrombotic Thrombocytopenic Purpura	Coma, Abnormal lactate dehydrogenase level, Confusion, Decreased serum creatinine	ORPHA:54057
Hyperlysinemia	Hyperlysinemia, Hyperlysinuria, Hypoornithinemia, Hyperactivity, Abnormal circulating enzyme conc...	ORPHA:2203
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor...	OMIM:602522
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Ketonuria, ...	OMIM:616878
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Hematuria, Atrial septal d...	OMIM:258900
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia	ORPHA:30925
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Coma, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase	OMIM:615453
Glutaric Acidemia Type 3	Impulsivity, Lethargy, Elevated circulating glutaric acid concentration, Abnormality of circulati...	ORPHA:35706
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Renal dysplasia, Small for gestational age, Left ventricular hypertrophy, Hy...	OMIM:616733
Citrullinemia, Classic	Coma, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Lethargy, Elevated plasma c...	OMIM:215700
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki...	ORPHA:300298
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Acanthocytosis, Abetalipoproteinemia	ORPHA:157850
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Hyperalaninemia, Elevated hepatic transaminase, Hyperprolinemia	OMIM:619064
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase,...	OMIM:617156
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Lethargy	ORPHA:26792
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Lethargy	OMIM:250620
Argininemia	Diaminoaciduria, Hyperammonemia, Hyperargininemia, Hyperactivity	OMIM:207800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Hepatitis, Coma, Elevated hepatic transaminase, Hyperammonemia, Hyperornithinemi...	ORPHA:415
Multiple Mitochondrial Dysfunctions Syndrome 1	Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Neonatal de...	OMIM:605711
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir...	OMIM:601775
Biotinidase Deficiency	Alopecia, Organic aciduria, Hyperammonemia, Hepatomegaly, Splenomegaly	OMIM:253260
Ataxia-Telangiectasia	Mucosal telangiectasiae, Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasi...	ORPHA:100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi...	OMIM:618278
Galactosemia	Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal e...	ORPHA:352
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Hyperphenylalaninemia, Dysphagia	OMIM:233910
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Coma, Lethargy, Acute hyperammonemia	OMIM:210200
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Abnormal EKG, Ketonuria, Elevated circulating c...	ORPHA:480864
Classic Glucose Transporter Type 1 Deficiency Syndrome	Confusion, Lethargy	ORPHA:71277
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi...	OMIM:617514
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy	OMIM:618228
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Microvesicular...	OMIM:610198
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Hemochromatosis, Type 3	Anemia, Cirrhosis, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c...	OMIM:604250
Choreoacanthocytosis	Peroneal muscle atrophy, Muscle fiber atrophy, Weight loss, Abnormal erythrocyte enzyme level, Di...	ORPHA:2388
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy	OMIM:615026
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia, Coma, Loss of consciousness	OMIM:307030
Sitosterolemia 1	Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Elevated cir...	OMIM:210250
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp...	ORPHA:353
Congenital Disorder Of Glycosylation, Type Ip	Hyperammonemia, Low anterior hairline	OMIM:613661
Hyperinsulinism Due To Hnf4A Deficiency	Drowsiness, Coma, Elevated hepatic transaminase, Abnormal circulating fatty-acid concentration, A...	ORPHA:263455
Hemochromatosis, Type 2A	Lethargy, Increased circulating ferritin concentration, Increased serum iron	OMIM:602390
Combined Oxidative Phosphorylation Deficiency 4	Hyperammonemia, Intrauterine growth retardation, Hepatomegaly	OMIM:610678
Familial Pseudohyperkalemia	Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased...	ORPHA:90044
Systemic Lupus Erythematosus 17	Leukopenia, Alopecia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive ...	OMIM:301080
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Schimke Immuno-Osseous Dysplasia	Nephrotic range proteinuria, Ischemic stroke, Bone marrow hypocellularity, Hyperlipidemia, Thromb...	ORPHA:1830
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Spherocytosis, Type 4	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Classic Galactosemia	Hepatic failure, Jaundice, Abnormal erythrocyte enzyme level, Elevated hepatic transaminase, Abno...	ORPHA:79239
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Increased serum pyruvate	OMIM:618225
Spherocytosis, Type 1	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp...	OMIM:182900
Rett Syndrome	Agitation, Hyperammonemia, Increased serum pyruvate, Bradykinesia	ORPHA:778
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr...	OMIM:300835
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M...	OMIM:612925
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Leukopenia, Anemia, Renal tubular acidosis, Short stature, Ellip...	ORPHA:2785
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Elevated hepatic transaminase, Hyperlipidemia	ORPHA:2089
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Sparse eyebrow, Sparse scalp hair, Nephrotic syndrome, Fine hair, Decrease...	OMIM:614748
Schimke Immunoosseous Dysplasia	Coarse hair, Thrombocytopenia, Disproportionate short-trunk short stature, Stage 5 chronic kidney...	OMIM:242900
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Idiopathic Congenital Hypothyroidism	Lethargy, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Polydipsia	OMIM:619468
Crigler-Najjar Syndrome	Jaundice, Lethargy	ORPHA:205
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Porphyrinuri...	ORPHA:79277
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp...	OMIM:185000
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia...	OMIM:612926
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Cystathioninemia, Methylmalonic acidemia, Cystathioninuri...	OMIM:277400
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Hyperalaninemia, Increased serum pyruvate	OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Dysphagia	OMIM:618226
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Myositis, Failure to thrive,...	OMIM:615934
Combined Oxidative Phosphorylation Deficiency 3	Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Dilated cardiomyopa...	OMIM:610505
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated hepatic transaminase, Elevated circulating creatinine con...	OMIM:614817
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Lacticaciduria, Failure to th...	ORPHA:3008
Cyclic Vomiting Syndrome	Lethargy, Attention deficit hyperactivity disorder	OMIM:500007
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Hyperhomocystinemia, Hypomet...	ORPHA:2169
Immunodeficiency 50	Neutropenia, Lymphopenia, Recurrent urinary tract infections	OMIM:300988
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia...	OMIM:612924
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Atrial septal defect, Lymphopenia	OMIM:614868
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Decreased methionine synthase activity, Cystathioninemia, Methylmalonic acidemia, Cystathioninuri...	OMIM:277380
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Ab...	ORPHA:277
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ...	OMIM:616959
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
Alkaptonuria	Thickened Achilles tendon, Elevated urinary homogentisic acid, Decreased glomerular filtration ra...	OMIM:203500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia, Lymphopenia	OMIM:247800
Insulinoma	Fluctuations in consciousness, Coma, Polyphagia, Reduced consciousness/confusion, Lethargy	ORPHA:97279
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia	OMIM:617744
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antib...	OMIM:613179
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis	OMIM:301083
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia	ORPHA:101150
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly	OMIM:619164
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Short stature, Spherocytosis	ORPHA:66518
Biotinidase Deficiency	Lethargy, Decreased circulating biotinidase concentration, Hyperammonemia	ORPHA:79241
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Myopathy, Acanthocytosis, Decreased muscle mass	OMIM:234200
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia, Abnormal circulating enzyme concentrati...	ORPHA:395
Acute Liver Failure	Hypotension, Hypocapnia, Acute kidney injury, Hepatocellular necrosis, Hepatic necrosis, Jaundice...	ORPHA:90062
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Short stature, Jaundice, Hyperkalemia, Growth delay, Hepatomega...	OMIM:608885
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Anemia, Sparse scalp hair, Decreased body weight, Small for gestational age, Anis...	OMIM:615789
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Elliptocytosis, Abnormal aortic valve morphology, Proteinuria, Abnormal hair morp...	ORPHA:86818
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Hyperuricemia, Coma, Hypophosphatemia, Jaundice, Chro...	ORPHA:469
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemi...	ORPHA:95716
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis, Anemia	OMIM:619835
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia	ORPHA:169079
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Mitral atresia, Microvesicular hepatic steatosis, Ketonuria, Small for gest...	OMIM:220111
Central Neurocytoma	Coma, Lethargy	ORPHA:73256
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:615838
Maple Syrup Urine Disease	Coma, Elevated plasma branched chain amino acids, Lethargy, Elevated circulating L-alloisoleucine...	OMIM:248600
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Legionnaires Disease	Hypotension, Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditi...	ORPHA:549
Hypercalcemia, Infantile, 1	Lethargy, Hypercalcemia	OMIM:143880
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e...	OMIM:617575
Syndromic Diarrhea	Hypoplasia of the thymus, Abnormality of iron homeostasis, Hepatoblastoma, Hepatomegaly, Splenome...	ORPHA:84064
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Mitral valve prolapse, Hypoplasia of penis, Atrial septal defect...	ORPHA:251066
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Ventricular septal defect, Lymphopenia, Su...	OMIM:618624
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Spontaneous hemolytic crises, Short stature, Jaundice, Hepatosplenomegaly, Conjug...	ORPHA:168577
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas...	ORPHA:169154
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperuricemia, Coma, Hypophosphatemia, Jaundice, Elevated hepatic transa...	OMIM:229600
Pediatric Systemic Lupus Erythematosus	Leukopenia, Alopecia, Nephrotic syndrome, Pericardial effusion, Microangiopathic hemolytic anemia...	ORPHA:93552
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Lymphopenia, Thrombocytopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Hemolytic anemia, Epistaxis, Thrombocytopenia, Increased mean plate...	OMIM:153670
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Per...	ORPHA:90362
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He...	OMIM:612541
Evans Syndrome	Jaundice, Lethargy	ORPHA:1959
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy	ORPHA:49827
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Hyperhomocystinemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ...	OMIM:617780
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice, Hemolytic anemia, Stomatocytosis	OMIM:268150
Avian Influenza	Leukopenia, Rhabdomyolysis, Acute kidney injury, Hepatitis, Hypoxemia, Congestive heart failure, ...	ORPHA:454836
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Mirage Syndrome	Leukopenia, Anemia, Decreased body weight, Short stature, Microphallus, Recurrent urinary tract i...	OMIM:617053
Lathosterolosis	Anisopoikilocytosis, Hypoplasia of penis, Intrahepatic cholestasis, Failure to thrive, Abnormal p...	ORPHA:46059
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Sneddon Syndrome	Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Lymphopenia, Facial palsy	OMIM:182410
Susac Syndrome	Confusion, Lethargy	ORPHA:838
Meningococcal Meningitis	Reduced consciousness/confusion, Lethargy, Elevated circulating C-reactive protein concentration,...	ORPHA:33475
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L...	OMIM:619846
Idiopathic Intracranial Hypertension	Lethargy	ORPHA:238624
Dopa-Responsive Dystonia	Lethargy	ORPHA:255
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Short stature, Limb-girdle muscle we...	ORPHA:79240
Elliptocytosis 3	Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi...	OMIM:617948
Staphylococcal Necrotizing Pneumonia	Confusion, Lethargy, Alcoholism, Elevated circulating C-reactive protein concentration	ORPHA:36238
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Lethargy	OMIM:611590
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma, Short stature, ...	OMIM:618935
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Jaundice, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta...	OMIM:613095
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice	OMIM:611804
Naxos Disease	Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body...	OMIM:601214
Cirrhosis, Familial	Increased level of propylene glycol in blood, Jaundice, Lethargy, Fulminant hepatitis	OMIM:215600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Hypoproteinemia, Lymphopenia	ORPHA:1116
Typhoid	Coma, Lethargy	ORPHA:99745
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Short stature, Intrauterine growth retardation,...	OMIM:616541
Amme Complex	Elliptocytosis, Diastasis recti, Hematuria, Intrauterine growth retardation	OMIM:300194
Pyropoikilocytosis, Hereditary	Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis	OMIM:266140
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Coma, Confusion, Lethargy, Dysphagia	OMIM:607483
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Hyperglycinemia	OMIM:614299
Vici Syndrome	Leukopenia, Penile hypospadias, T lymphocytopenia, Albinism, Left ventricular hypertrophy, Conges...	OMIM:242840
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Symptomatic Form Of Hemochromatosis Type 1	Abnormality of iron homeostasis, Elevated transferrin saturation, Chronic hepatic failure, Increa...	ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Increased serum pyruvate	OMIM:604377
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis...	OMIM:602450
Visceral Steatosis, Congenital	Neonatal death, Coma, Jaundice, Hypocalcemia, Lethargy	OMIM:228100
Immunodeficiency 87 And Autoimmunity	Atrioventricular canal defect, Decreased proportion of CD4-positive T cells, Hepatic steatosis, B...	OMIM:619573
Late-Onset Familial Hypoaldosteronism	Hypotension, Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to th...	ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Lethargy	OMIM:614922
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Renal artery aneurysm, Raynaud phenomenon, Hypertension, Pancytopenia, Hepato...	OMIM:615688
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Lethargy, Decreased serum zinc	OMIM:201100
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Short stature...	ORPHA:443811
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating alanine aminotransferase concentration, Elevated circulating phytanic acid c...	OMIM:614866
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Pseudo-Torch Syndrome 2	Lethargy, Elevated hepatic transaminase	OMIM:617397
Dengue Fever	Lethargy, Hypoproteinemia	ORPHA:99828
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Trichorrhexis nodosa, Short stature, Brittle hair, Bilateral cryptorchidism, ...	OMIM:616395
Ebola Hemorrhagic Fever	Hepatitis, Lethargy, Dysphagia	ORPHA:319218
Mitochondrial Trifunctional Protein Deficiency	Coma, Hypocalcemia, Lethargy, Chronic hepatic failure	ORPHA:746
Pearson Syndrome	Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Bone marrow hypocellulari...	ORPHA:699
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent foramen ovale, Anemia, Short stature, Renal dysplasia, Elliptocytosis, Synophrys, Nephroca...	OMIM:300990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor...	OMIM:616005
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Flexion contracture, Lymphopenia, Myositis, Failure to thrive, Lymphadenopathy, Hepatomeg...	OMIM:617591
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia...	ORPHA:760
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Scrub Typhus	Reduced consciousness/confusion, Lethargy	ORPHA:83317
Resistance To Thyrotropin-Releasing Hormone Syndrome	Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Lethargy	ORPHA:99832
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Alopecia, Cirrhosis, Premature graying of hair, Hepatic necrosis, Lymphopenia...	OMIM:127550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym...	ORPHA:331206
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Lethargy	ORPHA:226316
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Short stature, Acute lymphoblastic leukemia, Lymphop...	OMIM:208900
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hepatitis, Hyperkalemia, Hypercalcemia, Hyponatremia, Lethargy	ORPHA:199299
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short statur...	ORPHA:508542
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Attention deficit hyperact...	ORPHA:90674
Fructose-1,6-Bisphosphatase Deficiency	Coma, Lethargy	OMIM:229700
Cholera	Hypokalemia, Abnormal blood ion concentration, Loss of consciousness, Hyponatremia, Hypocalcemia,...	ORPHA:173
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Growth delay, Decreased propor...	OMIM:619510
Lujo Hemorrhagic Fever	Hypotension, Leukopenia, Myocarditis, Fulminant hepatitis, Lymphopenia, Shock, Thrombocytopenia, ...	ORPHA:319213
Khan-Khan-Katsanis Syndrome	Vesicoureteral reflux, Anemia, Patent foramen ovale, Tricuspid regurgitation, Short stature, Join...	OMIM:618460
Ogden Syndrome	Excessive daytime somnolence, Lethargy	ORPHA:276432
Macrocephaly/Autism Syndrome	Large for gestational age, Lymphopenia, Penile freckling, Hydrocele testis, Hepatomegaly, Coarse ...	OMIM:605309
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo...	OMIM:104200
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ...	ORPHA:3261
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,...	ORPHA:276
Familial Hypoaldosteronism	Lethargy, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:427
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinem...	ORPHA:90673
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor...	OMIM:618849
Cartilage-Hair Hypoplasia	Sparse eyebrow, Anemia, Absent pubertal growth spurt, Fair hair, Sparse facial hair, Lymphopenia,...	OMIM:250250
Posterior Urethral Valve	Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention...	ORPHA:93110
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Hypomethi...	ORPHA:79284
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Noonan Syndrome 14	Sparse eyebrow, Curly hair, Short stature, Mitral valve prolapse, Lymphopenia, Aortic regurgitati...	OMIM:619745
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Ventricular septal defect, Interface hepatitis, Lymphopenia, Impaired l...	OMIM:243150
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Shor...	ORPHA:391487
Trichinellosis	Excessive daytime somnolence, Dysphagia, Reduced consciousness/confusion, Confusion, Lethargy	ORPHA:863
Necrotizing Enterocolitis	Lethargy, Hyponatremia	ORPHA:391673
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, Anemia, Hepatic fibrosis, Exocrine pancrea...	OMIM:620005
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Dysphagia, Let...	ORPHA:254892
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Premature graying of hair, Abnormally low T cell receptor excision circle level, Pancytopenia, Ly...	OMIM:619767
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Wiskott-Aldrich Syndrome	Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Hematemesis, Thrombocytopenia, In...	ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Severe B lymphocy...	OMIM:102700
Cyclic Neutropenia	Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n...	ORPHA:2686
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Lymphopenia, Vasculitis in the skin, ...	OMIM:615816
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ...	ORPHA:169160
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Polydipsia	OMIM:266900
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Decreased serum iron, Abnor...	ORPHA:447
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Polyphagia	ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Lethargy, Polyphagia	ORPHA:398069
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl...	ORPHA:486
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Delirium, Hyperkalemia, Elevated circulating creatine kinase ...	ORPHA:466650
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenop...	ORPHA:1572
Encephalitis Lethargica	Coma, Lethargy	ORPHA:83600
Medulloblastoma	Lethargy, Elevated hepatic transaminase	ORPHA:616
Reynolds Syndrome	Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Raynaud phenomenon, Jaundice, Lymphopenia, Cho...	OMIM:613471
Isotretinoin-Like Syndrome	Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic valve, Lymphopenia, Aorti...	ORPHA:2306
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg...	OMIM:616100
Amoebiasis Due To Free-Living Amoebae	Coma, Loss of consciousness, Confusion, Lethargy, Restlessness	ORPHA:68
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Lethargy, Elevated hepatic transaminase, Hyperbilirubinemia	OMIM:557000
Immunodeficiency 55	Short stature, Lymphopenia, Lymphadenopathy, Intrauterine growth retardation, Neutropenia, Absent...	OMIM:617827
Icf Syndrome	Anemia, Short stature, Macroglossia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy	OMIM:618321
Hennekam Syndrome	Camptodactyly of finger, Pericardial effusion, Sparse axillary hair, Pulmonary lymphangiectasia, ...	ORPHA:2136
Immunodeficiency 31C	Weight loss, Short stature, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutin...	OMIM:614162
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Flexion contracture, Short stature, Azotemia, Decreased testicular size, Hepatic steato...	OMIM:619321
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lethargy, Hepatic failure, Hyperalaninemia, Coma	OMIM:252010
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Short stature, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, L...	OMIM:607944
Glycine Encephalopathy	Lethargy, Hyperglycinemia	ORPHA:407
Isolated Complex I Deficiency	Lethargy, Increased serum pyruvate	ORPHA:2609
Transcobalamin Ii Deficiency	Lethargy	OMIM:275350
Wiskott-Aldrich Syndrome	Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ...	OMIM:301000
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Abnormalit...	ORPHA:289390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ...	OMIM:600802
Cushing Disease	Pituitary corticotropic cell adenoma, Sparse scalp hair, Capillary fragility, Decreased eosinophi...	ORPHA:96253
Kufor-Rakeb Syndrome	Confusion, Lethargy, Bradykinesia, Dysphagia	ORPHA:306674
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy	OMIM:201470
Fusariosis	Brain abscess, Abnormality of the liver, Granuloma, Abnormality of the kidney, Peritonitis, Lung ...	ORPHA:228119
Histiocytoid Cardiomyopathy	Lethargy, Drowsiness, Loss of consciousness	ORPHA:137675
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia...	ORPHA:90363
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf...	ORPHA:35078
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia, Lethargy	OMIM:218700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Lethargy	ORPHA:226307
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Abnormality of the pancreas, Fine hair, Lymphopenia, White hair	ORPHA:935
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Capillary fragility, Decrea...	ORPHA:99889
Multiple Endocrine Neoplasia Type 1	Coma, Decreased vigilance, Hypercalcemia, Confusion, Lethargy	ORPHA:652
Homozygous Familial Hypercholesterolemia	Renal steatosis, Hypercholesterolemia, Sudden cardiac death, Abnormal tendon morphology, Tendon x...	ORPHA:391665
Pineoblastoma	Reduced consciousness/confusion, Lethargy	ORPHA:251909
Semilobar Holoprosencephaly	Lethargy, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:220386
Alobar Holoprosencephaly	Lethargy, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Lethargy, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:93926
Lobar Holoprosencephaly	Lethargy, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:93924
Hydranencephaly	Lethargy	ORPHA:2177
Blackfan-Diamond Anemia	Lethargy, Elevated red cell adenosine deaminase level	ORPHA:124
Eisenmenger Syndrome	Lethargy, Abnormal B-type natriuretic peptide concentration, Hyperuricemia, Elevated circulating ...	ORPHA:97214
Whim Syndrome	Lymphadenitis, Abnormality of neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Parotitis,...	ORPHA:51636
Charge Syndrome	Gonadotropin deficiency, Secundum atrial septal defect, Parathyroid hypoplasia, Hypoparathyroidis...	OMIM:214800

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
Asl^{tm94933(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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