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Cystathioninuria
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
AICA-ribosiduria
Synonym(s):
- Cystathionase deficiency
- Cystathione gamma - lyase deficiency
- Gamma-cystathionase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 -
1 MeSH reference: C535408
Gene symbol UniProt reference OMIM reference
CTH P32929607657
No signs/symptoms info available.