Albinism, oculocutaneous, type VI

Preferred Label : Albinism, oculocutaneous, type VI;

Symbol : OCA6;

CISMeF acronym : OCA6; SHEP4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Skin/hair/eye pigmentation, variation in, 4; Skin/hair/eye pigmentation 4, fair/dark skin; SHEP4;

Description : Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 gene (SLC24A5, 609802.0001);

Prefixed ID : #113750;

Details

Origin ID

113750;

UMLS CUI

C3805375;

Automatic exact mappings (from CISMeF team)
- Oculocutaneous albinism type 6 [ORDO Disease]
- SLC24A5 wt Allele [NCIt concept]
- oculocutaneous albinism type VI [DO Concept]
- solute carrier family 24 member 5 [ORDO Gene]
- solute carrier family 24 member 5 [HGNC gene]
Currated CISMeF NLP mapping
- Skin-Hair-Eye Pigmentation, Variation In, 4 [MeSH concept]
- Skin-Hair-Eye Pigmentation, Variation In, 4 [MeSH Supplementary Concept]
DO Cross reference
- oculocutaneous albinism type VI [DO Concept]
Genes related to phenotype
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypopigmentation [HPO term]
- Hypoplasia of the fovea [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism type 6 (disorder) [SNOMED CT concept]
- Skin-Hair-Eye Pigmentation, Variation In, 4 [MeSH Supplementary Concept]
- Skin-Hair-Eye Pigmentation, Variation In, 4 [MeSH concept]

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