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Temperature-sensitive oculocutaneous albinism type 1
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Minimal pigment oculocutaneous albinism type 1
Ocular albinism with congenital sensorineural deafness
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 3
Synonym(s):
- OCA1-TS
- TS OCA type 1
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare skin disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TYR P14679606933
No signs/symptoms info available.