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Cystinuria type A
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
2p21 microdeletion syndrome
Atypical hypotonia - cystinuria syndrome
Hypotonia - cystinuria syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC3A1 Q07837104614
No signs/symptoms info available.