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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 (505 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, Hyperglutaminemia, Hyperammonemia, Hypoargininemia	ORPHA:23
Argininosuccinic Aciduria		Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Inc...	OMIM:207900

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

Disease	Matching phenotypes	Source
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria	OMIM:238750
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia	ORPHA:147
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Imp...	OMIM:605899
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys...	ORPHA:3124
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ...	OMIM:174000
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Renal insufficiency, Hyperammonemia, Splenomegaly, Hepatomegal...	ORPHA:79312
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper...	OMIM:620085
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hy...	OMIM:619386
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia	ORPHA:28
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Failure to thrive, Pa...	OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,...	ORPHA:27
Maternal Uniparental Disomy Of Chromosome 4	Limb-girdle muscular dystrophy, Hypocholesterolemia, Postnatal growth retardation, Abnormal eryth...	ORPHA:96180
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C...	ORPHA:470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Throm...	ORPHA:289916
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Citrullinemia, Type Ii, Adult-Onset	Elevated gamma-glutamyltransferase level, Hyperammonemia, Hyperargininemia, Elevated circulating ...	OMIM:603471
N-Acetylglutamate Synthase Deficiency	Reduced hepatic N-acetylglutamate synthase activity, Hyperammonemia, Hyperglutamatemia, Aggressiv...	OMIM:237310
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,...	OMIM:242530
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate, Orthostatic hypotension	OMIM:618182
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom...	OMIM:232220
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hyperornithinemia, Hyperammonemia, Lethargy, Acute hepatitis, Homocitru...	OMIM:238970
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Lysinuric Protein Intolerance	Hemophagocytosis, Pulmonary hemorrhage, Hepatomegaly, Sparse hair, Hypolysinemia, Aminoaciduria, ...	OMIM:222700
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schist...	OMIM:616457
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear...	OMIM:212140
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hyperammonemia, L...	OMIM:616483
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Failure to thrive, Leukopenia, Stage 5 chronic kidney dis...	OMIM:251000
Chylomicron Retention Disease	Failure to thrive, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Myopathy, Growth delay...	ORPHA:71
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Growth delay, Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Int...	ORPHA:1194
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Growth delay, Decreased muscle mass, Decreased glomerular fil...	OMIM:232200
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Decreased methionine synthase activity, Hypomethioninemia, Lethargy, Hyperhomocys...	OMIM:236270
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemi...	ORPHA:247598
Choreoacanthocytosis	Skeletal muscle atrophy, Acanthocytosis, Limb muscle weakness, Elevated circulating creatine kina...	OMIM:200150
Propionic Acidemia	Organic aciduria, Cardiomyopathy, Hyperammonemia, Arrhythmia, Hepatomegaly	ORPHA:35
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Growth delay, Exocrine pancreatic insufficiency, Abnorma...	ORPHA:1667
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Hyperammonemia, Rhabdomyolysis, 3-Methylglutac...	OMIM:618120
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Cyclic neutropenia, Decreased glomerular f...	OMIM:232240
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Hyperammo...	ORPHA:42
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,...	OMIM:615631
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A...	ORPHA:292
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Propionyl-CoA carboxylase deficie...	OMIM:210210
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Congestive heart failu...	ORPHA:14
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Lethargy, Hyperalaninemia, Motor stereot...	ORPHA:927
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulatin...	OMIM:251110
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Mild postnatal gr...	OMIM:224120
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hyperammonemia, ...	OMIM:614702
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Severe Canavan Disease	Lethargy, Elevated urine N-acetylaspartic acid level, Oral-pharyngeal dysphagia	ORPHA:314911
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circula...	OMIM:301110
Splenoportal Vascular Anomalies	Hepatic fibrosis, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec...	ORPHA:18
Dihydropyrimidine Dehydrogenase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Lethargy, Hyperactivity	OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Hyperammonemia, Neutropenia, Sparse hair, Hypospadias, Small for...	OMIM:618253
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Hyperammonemia, Weight loss, Thrombocytopenia, Growth delay	ORPHA:79242
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Pulmonary hemorrha...	ORPHA:93126
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Episodic ammonia intoxication	OMIM:237300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic acidur...	OMIM:212138
Hyperinsulinemic Hypoglycemia, Familial, 8	Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera...	OMIM:620211
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Acanthocytosis	OMIM:604777
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole...	OMIM:615558
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Failure to thrive, Growth delay, Hyper...	OMIM:615471
Argininosuccinic Aciduria	Aminoaciduria, Hyperglutaminemia, Hyperammonemia, Hypoargininemia	ORPHA:23
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong...	OMIM:609015
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert...	OMIM:201475
Citrullinemia Type I	Lethargy, Hepatic failure, Elevated plasma citrulline, Hyperammonemia	ORPHA:247525
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Growth delay, Elbow flexion contracture, Medullary nephrocalcinosis, Intrauter...	OMIM:618947
Abetalipoproteinemia	Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Arrhythmia, Hepatomegaly, Macrovesicular hepatic steatosis, Po...	OMIM:608836
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure, Low plasma citrulline, Hyperammonemia	OMIM:618567
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Citrullinemia Type Ii	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased HDL cholester...	ORPHA:247585
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Organic aciduria, Hyperammonemia, Abnormal circulating leucine conc...	ORPHA:6
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische...	OMIM:274150
Isolated Atp Synthase Deficiency	Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperammonemia, 3-Methylgl...	ORPHA:254913
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Asymptomatic hyperammonemia	ORPHA:35878
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Argininosuccinic Aciduria	Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Inc...	OMIM:207900
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Hyperammonemia, Weakness of facial musculature, Rhabdomyolysis, Elevate...	OMIM:618416
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D...	ORPHA:26791
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal...	ORPHA:26793
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat...	ORPHA:71212
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Elev...	OMIM:222748
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Leukopenia, Leukocytos...	ORPHA:20
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive	OMIM:606762
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Intrauterine growt...	OMIM:619051
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Beta-Ketothiolase Deficiency	Hypotension, Ketonuria, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis,...	ORPHA:134
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Distal amyotrophy, Failure to thrive, Intrauterine growth retardation, Hyperamm...	OMIM:219150
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Hyperammonemi...	OMIM:620300
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonem...	OMIM:251100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Lethargy, Low plas...	OMIM:311250
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Arrhythmia, Myoglobinuria, Hepatomegaly, Tubulointersti...	ORPHA:228308
Isovaleric Acidemia	Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level, Reduced isovaleryl CoA dehyd...	OMIM:243500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Developmental And Epileptic Encephalopathy 82	Short stature, Hyperammonemia, Decreased body weight	OMIM:618721
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activi...	OMIM:277410
Central Diabetes Insipidus	Depression, Polydipsia, Hyponatremia, Lethargy, Anorexia	ORPHA:178029
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Intrauterine growth retardation, Reticulo...	ORPHA:71275
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Elevated circulating hepatic transaminase concentration, Increased serum pyruvate, Decr...	OMIM:246900
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to...	ORPHA:98870
Beta-Thalassemia Major	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231214
Argininemia	Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Diaminoaciduria, Reduced erythrocyte a...	OMIM:207800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Lethargy, Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity	OMIM:250620
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Abnormal renal tubule morphology, Growth delay, Hyperammonemia	OMIM:611719
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ...	ORPHA:91500
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy	ORPHA:254857
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Brittle hair, Splenomegaly...	OMIM:616084
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Cyano...	ORPHA:488627
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, E...	OMIM:617049
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Postnatal growth ...	OMIM:617093
Glucagonoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating p...	ORPHA:97280
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Neutropenia, Jaundice, Methylmalonic acidemia, Abnormal heart morphology, Rena...	ORPHA:79282
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Decreased methionine synthase activity, Hypomethioninemia, Lethargy, Hyperhomocys...	OMIM:250940
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hyperammonemia, Paroxysmal bursts of laugh...	ORPHA:391428
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Hyperammonemia, Hyperglutaminemia, Lethargy...	OMIM:215700
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Intraalveolar phospholipid accumulation, Failure to thrive, Chol...	OMIM:615486
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur...	OMIM:620609
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Elevated circulating hepatic transaminase concentration, Neonatal death	OMIM:610498
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Jaundice, Shock, Elevated circul...	ORPHA:99826
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Postnatal growth retardation, Abnorm...	ORPHA:288
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth re...	OMIM:614052
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hyperalaninemia, Hyperammonemia, 3-Methylglutaconic aciduria	OMIM:614739
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy	OMIM:606777
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Elevated circulating propionylcarnitine concentration, Decreased methionine synth...	OMIM:614857
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Elevated circulating hepatic transaminase concentration, Dysphagia	OMIM:613561
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ...	OMIM:613090
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Lethargy, Low plasma citrul...	OMIM:615751
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperproli...	OMIM:620358
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic ...	OMIM:619991
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Skeletal muscle atrophy, Lower limb muscle weakness, Elevated haptoglobin level,...	OMIM:620632
Glutamine Deficiency, Congenital	Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture	OMIM:610015
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hyperinsulinism Due To Ucp2 Deficiency	Decreased circulating free fatty acid level, Polyphagia, Lethargy, Increased C-peptide level, Agi...	ORPHA:276556
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Oroticaciduria, Anisocytosis, Hematu...	OMIM:258900
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Glutaric Acidemia Type 3	Impulsivity, Lethargy, Elevated circulating glutaric acid concentration, Abnormal circulating enz...	ORPHA:35706
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hyperammonemia, Hepatic steatosis, Splenomegaly, Hepatome...	OMIM:618641
Hyperlysinemia	Hypoornithinemia, Hyperlysinuria, Abnormal circulating enzyme concentration or activity, Hyperamm...	ORPHA:2203
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperprolinemia, Lethargy, Elevated circulating hepatic transaminase concentration, Hyperalaninemia	OMIM:619064
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Acanthocytosis, Abetalipoproteinemia	ORPHA:157850
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, 3-hyd...	OMIM:253270
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia	ORPHA:30925
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Lethargy	ORPHA:26792
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Ketonuria, Torsade de pointes, Hypertrophic car...	OMIM:616878
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce...	OMIM:602522
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia	OMIM:620137
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Decreased circulating free fatty acid level, Polyphagia, Lethargy, Increased C-peptide level, Agi...	ORPHA:276575
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, ...	OMIM:210200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Postnatal growth retardation, Int...	OMIM:616733
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerati...	OMIM:620454
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Hyperinsulinism Due To Hnf1A Deficiency	Decreased circulating free fatty acid level, Polyphagia, Lethargy, Increased C-peptide level, Agi...	ORPHA:324575
Multiple Mitochondrial Dysfunctions Syndrome 1	Hyperglycinuria, Alpha-aminoadipic aciduria, Hyperglycinemia, Neonatal death, Lethargy, Elevated ...	OMIM:605711
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp...	OMIM:601775
Rett Syndrome	Bruxism, Hyperammonemia, Stereotypical hand wringing, Bradykinesia, Increased serum pyruvate, Mot...	ORPHA:778
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Distal amyotrophy, Muscle fiber atrophy, Acantho...	ORPHA:2388
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Depression, Abnormal ci...	ORPHA:79239
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy	OMIM:615026
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H...	ORPHA:3008
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Polyphagia, Lethargy, Increased C-peptide level, Agitation	ORPHA:276580
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Lathosterolosis	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating lathoste...	OMIM:607330
Ataxia-Telangiectasia	Skeletal muscle atrophy, Failure to thrive, Aplasia/Hypoplasia of the thymus, Premature graying o...	ORPHA:100
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Ketonuria, Abnormal EKG, Hyperammonemia, Elevat...	ORPHA:480864
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptoc...	OMIM:618278
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Systemic Lupus Erythematosus 17	Hypertensive crisis, Alopecia, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon,...	OMIM:301080
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive hea...	OMIM:610198
Cyclic Vomiting Syndrome	Attention deficit hyperactivity disorder, Lethargy, Anorexia	OMIM:500007
Biotinidase Deficiency	Alopecia, Organic aciduria, Hyperammonemia, Splenomegaly, Hepatomegaly	OMIM:253260
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hepatic failure, Elevated circulating hepatic transaminase concentration, Transient hyp...	ORPHA:156
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Disproportionate short-trunk short s...	ORPHA:1830
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Increased serum pyruvate	OMIM:618225
Congenital Disorder Of Glycosylation, Type Ip	Hyperammonemia, Low anterior hairline	OMIM:613661
Hemochromatosis, Type 2A	Lethargy, Increased circulating iron concentration, Increased circulating ferritin concentration	OMIM:602390
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Intrauterine growth retardation, Hyperammonemia	OMIM:610678
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Elevated circulating hepatic transaminase concentration, Hyperlipidemia	ORPHA:2089
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Agitation	ORPHA:276608
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Hyperphenylalaninemia, Dysphagia	OMIM:233910
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperammonemia	OMIM:615453
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Abnormal...	ORPHA:79277
Crigler-Najjar Syndrome	Jaundice, Lethargy	ORPHA:205
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Increased serum pyruvate, Hyperalaninemia	OMIM:312170
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Sparse eyebrow, Fine hair, Decreased glomeru...	OMIM:614748
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce...	OMIM:277380
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Anorexia	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Disproportionate short-trunk short stature, Neutropenia, Nephrotic syn...	OMIM:242900
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Lower limb hypertonia, Postnatal growth ret...	ORPHA:2169
Immunodeficiency 50	Lymphopenia, Neutropenia, Recurrent urinary tract infections	OMIM:300988
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Le...	ORPHA:2785
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Dysphagia	OMIM:618226
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ...	OMIM:610505
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Nail...	OMIM:615934
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Postnatal growth retardation, Splenome...	OMIM:620603
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Lethargy, Elevated circulating L-al...	OMIM:248600
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Failure to thrive, Cerebral vasculitis, Recurrent urinary ...	OMIM:613179
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Elevated circu...	ORPHA:263455
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Decrea...	ORPHA:320
Alkaptonuria	Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r...	OMIM:203500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Postnatal growth retardation, Spleno...	OMIM:620210
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ...	ORPHA:277
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Lethargy, Anorexia	OMIM:611590
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Neonatal death	OMIM:618232
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Abnormal hair morphology, Intestinal lymphangiectasia	OMIM:152800
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Cystathioninemia, Abnormal circulating enzyme concentration or activity, Hypometh...	ORPHA:395
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia	ORPHA:101150
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Myopathy, Acanthocytosis, Decreased muscle mass	OMIM:234200
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Growth delay, Splenomegaly, Short stature, Conjugated hyperbilirubinemia, Hepatom...	OMIM:608885
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Biotinidase Deficiency	Lethargy, Hyperammonemia, Decreased circulating biotinidase concentration	ORPHA:79241
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Rothmund-Thomson Syndrome, Type 3	Severe short stature, Sparse eyebrow, Decreased body weight, Anisopoikilocytosis, Anemia, Small f...	OMIM:615789
3-Methylglutaconic Aciduria, Type Viia	Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis	OMIM:619835
Apparent Mineralocorticoid Excess	Growth delay, Failure to thrive, Decreased circulating renin level, Hypokalemia, Short stature, H...	OMIM:218030
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy	OMIM:618228
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Acute kidney injury, Hepatitis, Hepatocellular necrosis...	ORPHA:90062
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglo...	ORPHA:95716
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal hair morphology, Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glo...	ORPHA:86818
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega...	ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Hypospadias, Ketonuria, Failure to thrive, Hypertrophic cardiomyopathy, Mi...	OMIM:220111
Hypercalcemia, Infantile, 1	Lethargy, Hypercalcemia	OMIM:143880
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth retardation, Hepatosplenomegaly, S...	ORPHA:168577
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lympho...	OMIM:617575
Evans Syndrome	Jaundice, Lethargy	ORPHA:1959
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl...	ORPHA:169154
Pediatric Systemic Lupus Erythematosus	Nephritis, Alopecia, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lympho...	ORPHA:93552
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Tetralogy of Fallot, Supraval...	OMIM:618624
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Lethargy, Abnormal circulating creatine kinase ...	OMIM:615838
8P11.2 Deletion Syndrome	Growth delay, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Spherocytosis, Atrial septal d...	ORPHA:251066
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio...	OMIM:620366
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Transient aminoaciduria, Hyperbilirubine...	OMIM:229600
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean plate...	OMIM:153670
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Hepatitis, Congestive heart failure, Lymphopenia, Leukopeni...	ORPHA:454836
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Resistance To Thyrotropin-Releasing Hormone Syndrome	Prolonged neonatal jaundice, Lethargy, Depression, Abnormal circulating thyroglobulin concentration	ORPHA:99832
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Hyperuricemia, Chronic hepatic failu...	ORPHA:469
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Stillbirth, Decreased liver function, Neonatal death	OMIM:614922
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Myopathy, Neutropenia, Hep...	OMIM:612541
Mirage Syndrome	Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Decreased...	OMIM:617053
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Growth delay, Hypomagnesemia, Intestinal lymphangiectasia, ...	ORPHA:90362
Lathosterolosis	Intrahepatic cholestasis, Failure to thrive, Horseshoe kidney, Intrauterine growth retardation, A...	ORPHA:46059
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Lethargy, Anorexia	ORPHA:33475
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Homocystinuria, Cystathioninemia, Decreased methylmalonyl-CoA mutase activity, Cystathioninuria, ...	OMIM:277400
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension	OMIM:182410
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Skeletal muscle atrophy, Postnatal growth retardation, Splenomegaly, Renal tubu...	ORPHA:79240
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Hyperglycinemia	OMIM:614299
Naxos Disease	Sparse body hair, Diffuse palmoplantar hyperkeratosis, Premature ventricular contraction, Arrhyth...	OMIM:601214
Insulinoma	Polyphagia, Lethargy	ORPHA:97279
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Disproportionate short-limb ...	OMIM:616541
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Abnormal hair quantity	ORPHA:1116
Amme Complex	Hematuria, Intrauterine growth retardation, Diastasis recti, Elliptocytosis	OMIM:300194
Cirrhosis, Familial	Jaundice, Lethargy, Fulminant hepatitis, Increased level of propylene glycol in blood	OMIM:215600
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Lethargy, Chronic hepatic fail...	ORPHA:465508
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Decreased ...	OMIM:615474
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hypertension, Adrenal hyperplasia, Decreased circulating renin...	OMIM:103900
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Rena...	ORPHA:247353
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Anemia,...	OMIM:613824
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Increased serum pyruvate	OMIM:604377
Vici Syndrome	Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Lymphopenia,...	OMIM:242840
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Addictive alcohol use, Lethargy	ORPHA:36238
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Lethargy, Abnormal circulating thyroglobulin concentrati...	ORPHA:90674
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Late-Onset Isolated Acth Deficiency	Hepatitis, Hyperuricemia, Hyponatremia, Lethargy, Anorexia, Hypercalcemia	ORPHA:199299
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Elevated circulating luteinizing hormone level, Increased urinary 11-deoxycorticoste...	ORPHA:90793
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Lethargy, Decreased serum zinc	OMIM:201100
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ...	OMIM:619573
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Reduced tissue fructose-1,6-bisphosphatase activity	OMIM:229700
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hyperglycinemia, Agitation, Impulsivity, Lethargy, Hyperactivity, Hyper...	OMIM:620423
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Pseudo-Torch Syndrome 2	Lethargy, Elevated circulating hepatic transaminase concentration	OMIM:617397
Typhoid	Lethargy	ORPHA:99745
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Vasculitis, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepat...	OMIM:615688
Ebola Hemorrhagic Fever	Lethargy, Dysphagia, Hepatitis	ORPHA:319218
Liddle Syndrome 1	Hypokalemia, Hypertension, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Intracranial hemorrhage, Po...	ORPHA:90795
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria, Hy...	OMIM:613677
Late-Onset Familial Hypoaldosteronism	Hypotension, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia,...	ORPHA:556037
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:614866
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Dengue Fever	Lethargy, Hypoproteinemia	ORPHA:99828
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopenia, Tiger tail bandin...	OMIM:616395
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Lethargy, Neonatal hyperbilirubinemia, Increased circulating thyrogl...	ORPHA:90673
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Reduced circulating aromatic L-amino acid decarboxylase activity, Tongue thrusting	OMIM:608643
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Patent foramen ovale, Hypercalciuria, Elliptocytosis, Anemia, Short stature, Re...	OMIM:300990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hyp...	ORPHA:699
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Myositis, Hepatomegaly, Lymphadenopathy, Thrombocyt...	OMIM:617591
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ...	ORPHA:760
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Adrenal hyperplasia, Increased urinary potassium, Decreased circulating ...	ORPHA:231580
Genetic Transient Congenital Hypothyroidism	Prolonged neonatal jaundice, Lethargy, Increased circulating thyroglobulin concentration	ORPHA:226316
Ataxia-Telangiectasia	Failure to thrive, Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive he...	OMIM:208900
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran...	OMIM:616005
Macrocephaly/Autism Syndrome	Coarse hair, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Splenomegaly, Hep...	OMIM:605309
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk...	ORPHA:508542
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy, Dysphagia	OMIM:607483
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Acute Radiation Syndrome	Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia, Hyperkeratosis	ORPHA:454831
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Decreased circulating reni...	ORPHA:231625
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premat...	OMIM:127550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas...	ORPHA:331206
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Renal hypoplasia, Failure to thrive, Tricuspid regurgitation, ...	OMIM:618460
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Elevated circulating hepatic transaminase concentration, Bipolar affective disorder, ...	ORPHA:254892
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Myocard...	ORPHA:319213
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Polyphagia, Lethargy, Skin-picking, Compulsive behaviors, Impulsivity	ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Polyphagia, Lethargy, Skin-picking	ORPHA:398079
Cartilage-Hair Hypoplasia	Sparse eyebrow, Absent pubertal growth spurt, Neonatal short-limb short stature, Fair hair, Fine ...	OMIM:250250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Lymphopenia, Portal hypertension, Cryptorchidism, Nail dystrophy, Thro...	OMIM:620365
Mitochondrial Trifunctional Protein Deficiency	Lethargy, Chronic hepatic failure, Hypocalcemia	ORPHA:746
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Hypocalcemia	OMIM:607143
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Hypokalemia, Ovarian neoplasm, Hypertension, Renal ...	ORPHA:231632
Familial Hypoaldosteronism	Hyponatremia, Lethargy, Hyperkalemia, Increased circulating renin level	ORPHA:427
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia	ORPHA:79284
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Lethargy, Abnormal circulating ceruloplasmin concentra...	OMIM:620306
Ogden Syndrome	Lethargy	ORPHA:276432
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Scrub Typhus	Lethargy	ORPHA:83317
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Exocrine pancreat...	OMIM:620005
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Noonan Syndrome 14	Aortic regurgitation, Sparse eyebrow, Hypertrophic cardiomyopathy, Lymphopenia, Cryptorchidism, M...	OMIM:619745
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai...	OMIM:617237
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Sparse eyebrow, Renal hypoplasia, Ventricular hypertrophy, Lymphopenia...	OMIM:620654
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic an...	OMIM:243150
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Let...	OMIM:557000
Cholera	Hypocalcemia, Hypokalemia, Hyponatremia, Lethargy, Abnormal blood ion concentration	ORPHA:173
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Aggressive behavior, Lethargy	OMIM:618321
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrh...	ORPHA:906
Immunodeficiency 23	Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Vasculitis in the skin, Membr...	OMIM:615816
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray...	OMIM:619767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adeno...	OMIM:102700
Liddle Syndrome 2	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618126
Necrotizing Enterocolitis	Hyponatremia, Lethargy	ORPHA:391673
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Increased circulating lactate dehydrogenase concentrati...	ORPHA:447
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ...	ORPHA:169160
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, Hepatitis, Congestive heart failure, Lymphopenia, Hepatosp...	ORPHA:391487
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Immunodeficiency 9	Failure to thrive, Lymphopenia, Myopathy, Hypoplasia of the thymus, Abnormal natural killer cell ...	OMIM:612782
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ...	OMIM:613471
Medulloblastoma	Lethargy, Elevated circulating hepatic transaminase concentration	ORPHA:616
Transcobalamin Ii Deficiency	Lethargy, Hyperhomocystinemia	OMIM:275350
Common Variable Immunodeficiency	Vasculitis, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Splenomegaly, Ly...	ORPHA:1572
Trichinellosis	Lethargy, Apathy, Dysphagia	ORPHA:863
Glycine Encephalopathy	Lethargy, Hyperglycinemia	ORPHA:407
Icf Syndrome	Lymphopenia, Anemia, Macroglossia, Abnormality of neutrophils, Short stature	ORPHA:2268
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Glycerol Kinase Deficiency	Hyperglycerolemia, Lethargy, Reduced glycerol kinase activity in cultured fibroblasts, Hypertrigl...	OMIM:307030
Isolated Complex I Deficiency	Lethargy, Increased serum pyruvate	ORPHA:2609
Immunodeficiency 31C	Skeletal muscle atrophy, Growth delay, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, We...	OMIM:614162
Hennekam Syndrome	Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Mild postnatal growth retardation, Spleno...	ORPHA:2136
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar...	OMIM:617827
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Congenital adrenal hyperplasia, Decreased testicular size, Decreased circulating reni...	OMIM:202010
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Leukocyto...	OMIM:619321
Encephalitis Lethargica	Lethargy	ORPHA:83600
Primary Sjögren Syndrome	Normocytic anemia, Vasculitis, Arteritis, Biliary cirrhosis, Parotitis, Chronic active hepatitis,...	ORPHA:289390
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Raynau...	OMIM:607944
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Epistaxis, Nephropathy, Decreased proportion of CD8-positive T ce...	OMIM:301000
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lethargy, Hepatic failure, Hyperalaninemia	OMIM:252010
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy	OMIM:620233
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Capillary fragility, Leukocytosis, Adrenal hyperpl...	ORPHA:96253
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy	OMIM:201470
Kufor-Rakeb Syndrome	Lethargy, Bradykinesia, Apathy, Dysphagia	ORPHA:306674
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Amoebiasis Due To Free-Living Amoebae	Lethargy, Restlessness	ORPHA:68
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Reduced circulating transferrin ...	ORPHA:90363
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Semilobar Holoprosencephaly	Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia	ORPHA:220386
Alobar Holoprosencephaly	Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia	ORPHA:93926
Lobar Holoprosencephaly	Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia	ORPHA:93924
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Anemia, Abnormality of the pancreas	ORPHA:935
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai...	ORPHA:35078
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, P...	ORPHA:99889
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Lethargy	ORPHA:226307
Multiple Endocrine Neoplasia Type 1	Lethargy, Depression, Hypercalcemia, Anorexia	ORPHA:652
Histiocytoid Cardiomyopathy	Lethargy	ORPHA:137675
Hydranencephaly	Lethargy	ORPHA:2177
Diamond-Blackfan Anemia	Lethargy, Elevated red cell adenosine deaminase activity	ORPHA:124
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Renal ...	ORPHA:391665
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Lethargy, Hyperuricemia, Abnormal circulat...	ORPHA:97214
Charge Syndrome	Lymphopenia, Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Overriding ...	OMIM:214800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypospadias, Joint contracture of the hand, Vesicovaginal fistula, Horseshoe kidney, Cryptorchidi...	OMIM:201750
Pineoblastoma	Lethargy	ORPHA:251909

Histopathology

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

There is no histopathology data for Asl

IMPC related publications

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

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

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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

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