SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1

General Information (adopted from Orphanet):

Synonyms, Signs: EYE COLOR, BROWN/BLUE
EYE COLOR 3
BROWN EYE COLOR 2
HAIR COLOR 3
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR
EYE COLOR, BLUE/NONBLUE
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SHEP1
EYCL3
BEY2
HCL3
Number of Symptoms 2
OrphanetNr:
OMIM Id: 227220
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000478) Abnormality of the eye 126 / 7739
2
(OMIM) Blue color recessive to brown 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) - 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 ...

Clinical Description OMIM Pigmentation of hair, eye, and skin is among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. Pigmentation in human tissues is attributable to the number, type, ...
Molecular genetics OMIM Two OCA2 coding region variant alleles, arg305 to trp (R305W; 611409.0011) and arg419 to gln (R419Q; 611409.0012), were shown to be associated with brown and green/hazel eye colors, respectively (Rebbeck et al., 2002; Jannot et al., 2005), and ...