Skin/hair/eye pigmentation, variation in, 1

Preferred Label : Skin/hair/eye pigmentation, variation in, 1;

Symbol : SHEP1;

CISMeF acronym : BEY2; EYCL3; HCL3; SHEP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skin/hair/eye pigmentation 1, blue/nonblue eyes; Eye color 3; Brown eye color 2; Eye color, brown/blue; Skin/hair/eye pigmentation 1, blond/brown hair; Eye color, blue/nonblue; BEY2; HCL3; Skin/hair/eye pigmentation 1, blue/brown eyes; Hair color 3; EYCL3;

Description : - Genetic Heterogeneity of Variation in Skin/Hair/Eye Pigmentation Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (266300) is determined by variation at the MC1R locus (155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (601800) encompasses pigment variation influenced by the TYR gene (606933); SHEP4 (113750), that influenced by the SLC24A5 gene (609802). Variation in the SLC45A2 (606202) and SLC24A4 (609840) genes result in the phenotypic associations SHEP5 (227240) and SHEP6 (210750), respectively. Sequence variation thought to affect expression of KITLG (184745) results in the;

Inheritance : Autosomal recessive at BEY locus; Eye color probably polygenic;

Prefixed ID : #227220;

Details

Origin ID

227220;

UMLS CUI

C1856895;

Automatic exact mappings (from CISMeF team)
- HERC2 wt Allele [NCIt concept]
- OCA2 melanosomal transmembrane protein [ORDO Gene]
- OCA2 wt Allele [NCIt concept]
- SH2 Domain-Containing Protein 3C [NCIt concept]
- SH2D3C wt Allele [NCIt concept]
Genes related to phenotype
- Hect domain and rcc1-like domain 2 [OMIM gene]
- Oca2 melanosomal transmembrane protein [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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