MCID: SKN065
MIFTS: 19

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 57 29 6
Skin/hair/eye Pigmentation 1, Blue/brown Eyes 57
Eye Color, Blue/nonblue 57
Brown Eye Color 2; Bey2 57
Eye Color, Brown/blue 57
Eye Color 3; Eycl3 57
Hair Color 3; Hcl3 57
Brown Eye Color 2 57
Hair Color 3 57
Eye Color 3 57
Shep1 57
Eycl3 57
Bey2 57
Hcl3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive at bey locus
eye color probably polygenic


Classifications:



External Ids:

OMIM 57 227220
MedGen 42 C1856895
SNOMED-CT via HPO 69 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 prader-willi syndrome. 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 phenotypes are abnormality of the eye and 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:

57
Eyes:
blue color recessive to brown


Clinical features from OMIM:

227220

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478

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

46
# 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 29 HERC2 OCA2

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

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

41
Eye, Skin

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

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 rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
2 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh38 Chromosome 15, 27985101: 27985101
3 HERC2 NM_004667.5(HERC2): c.7729G> A (p.Val2577Ile) single nucleotide variant Uncertain significance rs146366728 GRCh37 Chromosome 15, 28443903: 28443903
4 HERC2 NM_004667.5(HERC2): c.7729G> A (p.Val2577Ile) single nucleotide variant Uncertain significance rs146366728 GRCh38 Chromosome 15, 28198757: 28198757
5 HERC2 NM_004667.5(HERC2): c.4651A> C (p.Ile1551Leu) single nucleotide variant Uncertain significance rs200864382 GRCh38 Chromosome 15, 28233170: 28233170
6 HERC2 NM_004667.5(HERC2): c.4651A> C (p.Ile1551Leu) single nucleotide variant Uncertain significance rs200864382 GRCh37 Chromosome 15, 28478316: 28478316

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
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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