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Argininosuccinic aciduria
1 OMIM reference -
1 associated gene
9 connected diseases
9 signs/symptoms
Disease Type of connection
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E1-alpha deficiency
Charcot-Marie-Tooth disease type 4G
Combined oxidative phosphorylation defect type 4
Familial isolated dilated cardiomyopathy
Fructose-1,6-bisphosphatase deficiency
Muscular dystrophy, Selcen type
Non-spherocytic hemolytic anemia due to hexokinase deficiency
X-linked non-syndromic intellectual deficit
Synonym(s):
- Argininosuccinase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D056807
Gene symbol UniProt reference OMIM reference
ASL P04424608310
Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- EEG anomalies
- Hyperammonemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Storage liver disease

Occasional
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness