MCID: SKN060
MIFTS: 13

Skin/hair/eye Pigmentation, Variation in, 11

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 57 29 13 6
Melanesian Blond Hair 57
Shep11 57

Classifications:



External Ids:

OMIM 57 612271
MedGen 42 C2677086
SNOMED-CT via HPO 69 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

Clinical features from OMIM:

612271

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

32
# Description HPO Frequency HPO Source Accession
1 blue irides 32 HP:0000635
2 abnormality of skin pigmentation 32 HP:0001000
3 abnormal iris pigmentation 32 HP:0008034
4 abnormality of hair pigmentation 32 HP:0009887

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:

41
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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