SHEP11
MCID: SKN060
MIFTS: 16

Skin/hair/eye Pigmentation, Variation in, 11 (SHEP11)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 11

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 11:

Name: Skin/hair/eye Pigmentation, Variation in, 11 57 29 13 6
Melanesian Blond Hair 57
Shep11 57

Classifications:



External Ids:

OMIM® 57 612271
OMIM Phenotypic Series 57 PS227220
MedGen 41 C2677086
SNOMED-CT via HPO 68 301952009

Summaries for Skin/hair/eye Pigmentation, Variation in, 11

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 11, is also known as melanesian blond hair. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 11 is TYRP1 (Tyrosinase Related Protein 1). Affiliated tissues include eye and skin, and related phenotypes are blue irides and abnormality of skin pigmentation

More information from OMIM: 612271 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 11

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 11

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 11:

31
# Description HPO Frequency HPO Source Accession
1 blue irides 31 HP:0000635
2 abnormality of skin pigmentation 31 HP:0001000
3 abnormality of hair pigmentation 31 HP:0009887
4 abnormal iris pigmentation 31 HP:0008034

Clinical features from OMIM®:

612271 (Updated 20-May-2021)

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 11

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 11

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 11

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 11:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 11 29 TYRP1

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 11

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 11:

40
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 11

Articles related to Skin/hair/eye Pigmentation, Variation in, 11:

# Title Authors PMID Year
1
Melanesian blond hair is caused by an amino acid change in TYRP1. 61 57 6
22556244 2012
2
Gene-gene interactions contribute to eye colour variation in humans. 57
21471978 2011
3
Two newly identified genetic determinants of pigmentation in Europeans. 57
18488028 2008
4
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 57
18488027 2008

Variations for Skin/hair/eye Pigmentation, Variation in, 11

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYRP1 NM_000550.3(TYRP1):c.277C>T (p.Arg93Cys) SNV Affects 31621 rs387907171 GRCh37: 9:12694273-12694273
GRCh38: 9:12694273-12694273

Expression for Skin/hair/eye Pigmentation, Variation in, 11

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 11.

Pathways for Skin/hair/eye Pigmentation, Variation in, 11

GO Terms for Skin/hair/eye Pigmentation, Variation in, 11

Sources for Skin/hair/eye Pigmentation, Variation in, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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