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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
AICA-ribosiduria
Cystathioninuria

ATIC CTH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATIC
(0.7)
CTH



Citations in the biomedical literature:


AICA-ribosiduria
ATIC
Cystathioninuria
CTH



AICA-ribosiduria
Cystathioninuria

Synonym(s):
- 5-amino-4-imidazole carboxamide ribosiduria
- ATIC deficiency

Synonym(s):
- Cystathionase deficiency
- Cystathione gamma - lyase deficiency
- Gamma-cystathionase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535408

No signs/symptoms info available.