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Argininemia
1 OMIM reference -
1 associated gene
7 connected diseases
9 signs/symptoms
Disease Type of connection
Estrogen resistance syndrome
17q11 microdeletion syndrome
Burkitt lymphoma
Cornelia de Lange syndrome
Hyperprolinemia type 2
Precursor T-cell acute lymphoblastic leukemia
Weaver syndrome
Synonym(s):
- Arginase deficiency
- Hyperargininemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D020162
Gene symbol UniProt reference OMIM reference
ARG1 P05089608313
Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychic / behavioural troubles
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- EEG anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hyperammonemia
- Seizures / epilepsy / absences / spasms / status epilepticus