SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11

General Information (adopted from Orphanet):

Synonyms, Signs: SHEP11
MELANESIAN BLOND HAIR
SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES
Number of Symptoms 4
OrphanetNr:
OMIM Id: 612271
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:0000635) Blue irides 25 / 7739
2
(HPO:0008034) Abnormal iris pigmentation 3 / 7739
3
(HPO:0009887) Abnormality of hair pigmentation 1 / 7739
4
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kenny et al. (2012) examined the genetic basis of blond hair in Solomon Islanders, a population that differs from the general trend of darker skin and hair pigmentation near the equator where there is higher UV radiation. Although ...
Molecular genetics OMIM Kenny et al. (2012) performed a case-control genomewide association study on 43 blond- and 42 dark-haired Solomon Islanders and observed a single strong association signal on chromosome 9p23; the most significant SNP was dbSNP rs13289810 with a p ...