tyrosinase-positive albinism
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
form of oculocutaneous albinism |
| gptkbp:affects |
gptkb:skin
eyes hair |
| gptkbp:causedBy |
mutations in OCA2 gene
mutations in other pigmentation genes |
| gptkbp:distinctFrom |
gptkb:tyrosinase-negative_albinism
|
| gptkbp:hasBiologicalActivity |
partial melanin production
tyrosinase enzyme present |
| https://www.w3.org/2000/01/rdf-schema#label |
tyrosinase-positive albinism
|
| gptkbp:ICD-10_code |
gptkb:E70.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
increased risk of skin cancer
|
| gptkbp:symptom |
nystagmus
visual impairment photophobia hypopigmentation |
| gptkbp:treatment |
sun protection
visual aids |
| gptkbp:bfsParent |
gptkb:Oculocutaneous_albinism_type_2
|
| gptkbp:bfsLayer |
7
|