Oculocutaneous albinism type 3

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0001010 Hypopigmentation of the skin Very frequent (99-80%)
HP:0001022 Albinism Very frequent (99-80%)
HP:0007730 Iris hypopigmentation Very frequent (99-80%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001480 Freckling Frequent (79-30%)
HP:0002297 Red hair Frequent (79-30%)
HP:0005599 Hypopigmentation of hair Frequent (79-30%)
HP:0000992 Cutaneous photosensitivity Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TYRP1 tyrosinase related protein 1 7306