MCID: SKN066
MIFTS: 13

Skin/hair/eye Pigmentation, Variation in, 5

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 5

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 5:

Name: Skin/hair/eye Pigmentation, Variation in, 5 57 29 6
Shep5 57

Characteristics:

OMIM:

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


Classifications:



External Ids:

OMIM 57 227240
MedGen 42 C2673584
SNOMED-CT via HPO 69 19416009 371405004 371409005

Summaries for Skin/hair/eye Pigmentation, Variation in, 5

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 5, also known as shep5, is related to basal cell carcinoma 1. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 5 is SLC45A2 (Solute Carrier Family 45 Member 2). Affiliated tissues include eye and skin, and related phenotype is abnormality of the eye.

Description from OMIM: 227240

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 5

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 5

Symptoms via clinical synopsis from OMIM:

57
Eyes:
blue color recessive to green


Clinical features from OMIM:

227240

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 5:

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

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 5

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 5

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 5

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 5:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 5 29 SLC45A2

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 5

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 5:

41
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 5

Variations for Skin/hair/eye Pigmentation, Variation in, 5

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC45A2 NM_016180.4(SLC45A2): c.1122C> G (p.Phe374Leu) single nucleotide variant protective rs16891982 GRCh37 Chromosome 5, 33951693: 33951693
2 SLC45A2 NM_016180.4(SLC45A2): c.1122C> G (p.Phe374Leu) single nucleotide variant protective rs16891982 GRCh38 Chromosome 5, 33951588: 33951588

Expression for Skin/hair/eye Pigmentation, Variation in, 5

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 5.

Pathways for Skin/hair/eye Pigmentation, Variation in, 5

GO Terms for Skin/hair/eye Pigmentation, Variation in, 5

Sources for Skin/hair/eye Pigmentation, Variation in, 5

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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