Albinism, ocular, type I

Preferred Label : Albinism, ocular, type I;

Symbol : OA1;

CISMeF acronym : OA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nettleship-falls type ocular albinism;

Description : Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009).;

Inheritance : X-linked;

Prefixed ID : #300500;

Details

Origin ID

300500;

UMLS CUI

C0342684;

Currated CISMeF NLP mapping
- Ocular Albinism Type 1 [NCIt concept]
- Ocular Albinism type 1 [MeSH concept]
- Ocular albinism, type I (disorder) [SNOMED CT concept]
- X-linked recessive ocular albinism [ORDO Disease]
- X-linked recessive ocular albinism [ICD-11 More detail]
- ocular albinism type 1 [MeSH Supplementary Concept]
- x-linked ocular albinism, nettleship type [SNOMED Notion]
DO Cross reference
- ocular albinism [DO Concept]
Genes related to phenotype
- G protein-coupled receptor 143 [OMIM gene]
HPO term(s)
- Depigmented fundus [HPO term]
- Giant melanosomes in melanocytes [HPO term]
- Nystagmus [HPO term]
- Nystagmus-induced head nodding [HPO term]
- Ocular albinism [HPO term]
- Photophobia [HPO term]
- Visual impairment [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked recessive ocular albinism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ocular Albinism Type 1 [NCIt concept]
- Ocular Albinism type 1 [MeSH concept]
- Ocular albinism, type I (disorder) [SNOMED CT concept]
- X-linked recessive ocular albinism [ORDO Disease]
- X-linked recessive ocular albinism [ICD-11 More detail]
- ocular albinism type 1 [MeSH Supplementary Concept]
- x-linked ocular albinism, nettleship type [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients