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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Argininemia
Estrogen resistance syndrome

ARG1 ESR1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ARG1
(0.78)
ESR1



Citations in the biomedical literature:


Argininemia
ARG1
Estrogen resistance syndrome
ESR1



Argininemia
Estrogen resistance syndrome

Synonym(s):
- Arginase deficiency
- Hyperargininemia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D020162
External references:
1 OMIM reference -
No MeSH references

Argininemia

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



Estrogen resistance syndrome

(no data available)