SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5

General Information (adopted from Orphanet):

Synonyms, Signs: SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN
SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SHEP5
Number of Symptoms 2
OrphanetNr:
OMIM Id: 227240
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 green 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Graf et al. (2007) examined the association between normal skin color variation in several populations and 3 different promoter polymorphisms in the MATP gene: -1721C-G (dbSNP rs13289), -1169G-A (dbSNP rs6867641), and a 3-bp duplication, -1174dupAAT. In Caucasian samples, ...