Albinism, oculocutaneous, type II

Preferred Label : Albinism, oculocutaneous, type II;

Symbol : OCA2;

CISMeF acronym : BOCA; OCA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oculocutaneous albinism, type II; Oculocutaneous albinism, tyrosinase-positive; Albinism II;

Included titles and symbols : Albinism, brown oculocutaneous; Brown oculocutaneous albinism; BOCA;

Description : Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001). OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the mouse pink-eyed dilution gene (OCA2, 611409.0001);

Laboratory abnormalities : Hair bulbs will pigment when incubated with tyrosine;

Prefixed ID : #203200;

Details

Origin ID

203200;

UMLS CUI

C0268495;

Automatic exact mappings (from CISMeF team)
- Brown oculocutaneous albinism [ICD-11 More detail]
- Brown oculocutaneous albinism (disorder) [SNOMED CT concept]
- MESD wt Allele [NCIt concept]
- OCA2 Gene [NCIt concept]
- OCA2 gene [LOINC component]
- OCA2 melanosomal transmembrane protein [HGNC gene]
- OCA2 melanosomal transmembrane protein [ORDO Gene]
- OCA2 wt Allele [NCIt concept]
- Oculocutaneous albinism type 2 [ICD-11 More detail]
- Tyrosinase-positive oculocutaneous albinism [ICD-11 More detail]
- albinism, oculocutaneous [MeSH Descriptor]
- brown oculocutaneous albinism [SNOMED Notion]
- brown oculocutaneous albinism [MeSH concept]
- brown oculocutaneous albinism [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Oculocutaneous albinism [ORDO Disease]
Currated CISMeF NLP mapping
- Oculocutaneous albinism type 2 [MeSH concept]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type 2 [MeSH Supplementary Concept]
- oculocutaneous albinism type II [Disease (Nov.)]
- oculocutaneous albinism type II [DO Concept]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]
DO Cross reference
- oculocutaneous albinism type II [DO Concept]
Genes related to phenotype
- Melanocortin 1 receptor [OMIM gene]
- Oca2 melanosomal transmembrane protein [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue irides [HPO term]
- Exotropia [HPO term]
- Freckles in sun-exposed areas [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypoplasia of the fovea [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Red hair [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism type 2 [ORDO Disease]
- Oculocutaneous albinism type 2 [MeSH concept]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type 2 [MeSH Supplementary Concept]
- oculocutaneous albinism type II [DO Concept]
- oculocutaneous albinism type II [Disease (Nov.)]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]

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