MCID: SKN067
MIFTS: 24

Skin/hair/eye Pigmentation, Variation in, 2

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 2

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 2:

Name: Skin/hair/eye Pigmentation, Variation in, 2 57 29 73
Uv-Induced Skin Damage, Susceptibility to 29 6
Pigmentation, Skin/hair/eye, Variation in, Type 2 40
Uv-Induced Skin Damage 57
Blond Hair/fair Skin 57
Red Hair Color; Rhc 57
Hair Color 2; Hcl2 57
Red Hair Color 57
Hair Color 2 57
Shep2 57
Hcl2 57
Rhc 57
Rha 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive
red hair pigment possibly dominant to its absence and hypostatic to brown or black


Classifications:



External Ids:

OMIM 57 266300
MedGen 42 C1849452
SNOMED-CT via HPO 69 297997007
UMLS 73 C1849452

Summaries for Skin/hair/eye Pigmentation, Variation in, 2

OMIM : 57 Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see 176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; 600201), which antagonizes this action. (266300)

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 2, also known as uv-induced skin damage, susceptibility to, is related to anxiety and melanoma. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 2 is MC1R (Melanocortin 1 Receptor). Affiliated tissues include skin and eye, and related phenotype is red hair.

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 2

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 2

Symptoms via clinical synopsis from OMIM:

57
Hair:
red hair


Clinical features from OMIM:

266300

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 2:

32
# Description HPO Frequency HPO Source Accession
1 red hair 32 HP:0002297

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 2

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 2

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 2

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 2:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 2 29 MC1R
2 Uv-Induced Skin Damage, Susceptibility to 29

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 2

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 2:

41
Skin, Eye

Publications for Skin/hair/eye Pigmentation, Variation in, 2

Articles related to Skin/hair/eye Pigmentation, Variation in, 2:

(show all 12)
# Title Authors Year
1
Dual-Prevention for UV-Induced Skin Damage: Incorporation of Melatonin-Loaded Elastic Niosomes into Octyl Methoxycinnamate Pickering Emulsions. ( 28493002 )
2017
2
2016 Arte Poster Competition First Place Winner: Circadian Rhythm and UV-Induced Skin Damage: An In Vivo Study. ( 27602977 )
2016
3
Protective effect of a hydrogel containing Achyrocline satureioides extract-loaded nanoemulsion against UV-induced skin damage. ( 27599114 )
2016
4
Kynurenine Pathway in Skin Cells: Implications for UV-Induced Skin Damage. ( 22837645 )
2012
5
Efficient intradermal delivery of superoxide dismutase using a combination of liposomes and iontophoresis for protection against UV-induced skin damage. ( 22687417 )
2012
6
Noninvasive assessment of UV-induced skin damage: comparison of optical measurements to histology and MMP expression. ( 19906094 )
2010
7
Complementary effects of antioxidants and sunscreens in reducing UV-induced skin damage as demonstrated by skin biomarker expression. ( 20429687 )
2010
8
Effects of oral epigallocatechin gallate supplementation on the minimal erythema dose and UV-induced skin damage. ( 19212149 )
2009
9
Recommendation: daily sun protection in the prevention of chronic UV-induced skin damage. ( 17274786 )
2007
10
Topical application of a novel, water-soluble gamma-tocopherol derivative prevents UV-induced skin damage in mice. ( 15745421 )
2005
11
UV-induced skin damage. ( 12821280 )
2003
12
Natural phenolics in the prevention of UV-induced skin damage. A review. ( 15037894 )
2003

Variations for Skin/hair/eye Pigmentation, Variation in, 2

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MC1R MC1R, 3-BP DEL, 439TTC deletion risk factor
2 MC1R NM_002386.3(MC1R): c.470C> T (p.Thr157Ile) single nucleotide variant risk factor rs104894524 GRCh37 Chromosome 16, 89986136: 89986136
3 MC1R NM_002386.3(MC1R): c.470C> T (p.Thr157Ile) single nucleotide variant risk factor rs104894524 GRCh38 Chromosome 16, 89919728: 89919728
4 MC1R NM_002386.3(MC1R): c.475C> A (p.Pro159Thr) single nucleotide variant risk factor rs104894523 GRCh37 Chromosome 16, 89986141: 89986141
5 MC1R NM_002386.3(MC1R): c.475C> A (p.Pro159Thr) single nucleotide variant risk factor rs104894523 GRCh38 Chromosome 16, 89919733: 89919733

Expression for Skin/hair/eye Pigmentation, Variation in, 2

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 2.

Pathways for Skin/hair/eye Pigmentation, Variation in, 2

GO Terms for Skin/hair/eye Pigmentation, Variation in, 2

Sources for Skin/hair/eye Pigmentation, Variation in, 2

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
Content
Loading form....