SHEP11
MCID: SKN060
MIFTS: 11

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

Categories: 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 58 30 13 6
Melanesian Blond Hair 58
Shep11 58

Classifications:



External Ids:

OMIM 58 612271
MedGen 43 C2677086
SNOMED-CT via HPO 70 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 skin and eye, and related phenotypes are blue irides and abnormality of skin pigmentation

Description from OMIM: 612271

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:

33
# Description HPO Frequency HPO Source Accession
1 blue irides 33 HP:0000635
2 abnormality of skin pigmentation 33 HP:0001000
3 abnormal iris pigmentation 33 HP:0008034
4 abnormality of hair pigmentation 33 HP:0009887

Clinical features from OMIM:

612271

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 30 TYRP1

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

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

42
Skin, Eye

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

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

# Title Authors Year
1
Melanesian blond hair is caused by an amino acid change in TYRP1. ( 22556244 )
2012

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TYRP1 NM_000550.2(TYRP1): c.277C> T (p.Arg93Cys) single nucleotide variant Affects rs387907171 GRCh37 Chromosome 9, 12694273: 12694273
2 TYRP1 NM_000550.2(TYRP1): c.277C> T (p.Arg93Cys) single nucleotide variant Affects rs387907171 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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