tyrosinase-negative albinism
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
type of albinism |
| gptkbp:affects |
gptkb:melanocytes
|
| gptkbp:alsoKnownAs |
Oculocutaneous albinism type 1A
|
| gptkbp:causedBy |
mutations in TYR gene
|
| gptkbp:characterizedBy |
absence of tyrosinase enzyme activity
lack of melanin production |
| gptkbp:diagnosedBy |
genetic testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
tyrosinase-negative albinism
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
increased risk of skin cancer
|
| gptkbp:symptom |
vision problems
very light skin white or very light hair |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:tyrosinase-positive_albinism
|
| gptkbp:bfsLayer |
8
|