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Cystinuria type A
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Atypical hypotonia - cystinuria syndrome
1 OMIM reference -
3 associated genes
No signs/symptoms info
Cystinuria type A
Atypical hypotonia - cystinuria syndrome

SLC3A1
(UniProt - OMIM)
 CAMKMT
(UniProt - OMIM)
PREPL
(UniProt - OMIM)
SLC3A1
(UniProt - OMIM)

COMMON
GENES 		SLC3A1


Citations in the biomedical literature:


Cystinuria type A
SLC3A1
Atypical hypotonia - cystinuria syndrome
CAMKMT PREPL



Cystinuria type A
Atypical hypotonia - cystinuria syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Atypical HCS
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(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
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.