MCID: SKN065
MIFTS: 23

Skin/hair/eye Pigmentation, Variation in, 1

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 1:

Name: Skin/hair/eye Pigmentation, Variation in, 1 53 28
Skin/hair/eye Pigmentation 1, Blue/brown Eyes 53
Eye Color, Blue/nonblue 53
Brown Eye Color 2; Bey2 53
Eye Color, Brown/blue 53
Eye Color 3; Eycl3 53
Hair Color 3; Hcl3 53
Brown Eye Color 2 53
Hair Color 3 53
Eye Color 3 53
Shep1 53
Eycl3 53
Bey2 53
Hcl3 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive at bey locus
eye color probably polygenic


Classifications:



External Ids:

OMIM 53 227220
SNOMED-CT via HPO 65 19416009 371405004 371409005

Summaries for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 1, also known as skin/hair/eye pigmentation 1, blue/brown eyes, is related to albinism, oculocutaneous, type vi and ring chromosome y syndrome, and has symptoms including abnormality of the eye An important gene associated with Skin/hair/eye Pigmentation, Variation in, 1 is OCA2 (OCA2 Melanosomal Transmembrane Protein). Affiliated tissues include eye and skin, and related phenotype is adipose tissue.

Description from OMIM: 227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 1

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 1

Symptoms via clinical synopsis from OMIM:

53
Eyes:
blue color recessive to brown


Clinical features from OMIM:

227220

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478

MGI Mouse Phenotypes related to Skin/hair/eye Pigmentation, Variation in, 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 HERC2 OCA2

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 1

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 1

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 1

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 1:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 1 28 HERC2 OCA2

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 1:

38
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 1

Articles related to Skin/hair/eye Pigmentation, Variation in, 1:

# Title Authors Year
1
Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling. ( 17270363 )
2007
2
Molecular determinants for interaction of SHEP1 with Cas localize to a highly solvent-protected region in the complex. ( 16364304 )
2006
3
SHEP1 function in cell migration is impaired by a single amino acid mutation that disrupts association with the scaffolding protein cas but not with Ras GTPases. ( 15272013 )
2004
4
A novel signaling intermediate, SHEP1, directly couples Eph receptors to R-Ras and Rap1A. ( 10542222 )
1999

Variations for Skin/hair/eye Pigmentation, Variation in, 1

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247

Expression for Skin/hair/eye Pigmentation, Variation in, 1

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 1.

Pathways for Skin/hair/eye Pigmentation, Variation in, 1

GO Terms for Skin/hair/eye Pigmentation, Variation in, 1

Sources for Skin/hair/eye Pigmentation, Variation in, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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