SHEP2
MCID: SKN067
MIFTS: 25

Skin/hair/eye Pigmentation, Variation in, 2 (SHEP2)

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 58 30 6 74
Uv-Induced Skin Damage, Susceptibility to 30 6
Pigmentation, Skin/hair/eye, Variation in, Type 2 41
Uv-Induced Skin Damage 58
Blond Hair/fair Skin 58
Red Hair Color; Rhc 58
Hair Color 2; Hcl2 58
Red Hair Color 58
Hair Color 2 58
Shep-2 17
Shep2 58
Hcl2 58
Rhc 58
Rha 58

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive
red hair pigment possibly dominant to its absence and hypostatic to brown or black


HPO:

33
skin/hair/eye pigmentation, variation in, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 266300
MedGen 43 C1849452
SNOMED-CT via HPO 70 258211005 297991008 297997007
UMLS 74 C1849452

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

OMIM : 58 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 cone-rod dystrophy and hearing loss 2 and rapp-hodgkin syndrome. 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

Graphical network of the top 20 diseases related to Skin/hair/eye Pigmentation, Variation in, 2:



Diseases related to Skin/hair/eye Pigmentation, Variation in, 2

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

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

33
# Description HPO Frequency HPO Source Accession
1 red hair 33 HP:0002297

Symptoms via clinical synopsis from OMIM:

58
Hair:
red hair

Clinical features from OMIM:

266300

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 30 MC1R
2 Uv-Induced Skin Damage, Susceptibility to 30

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

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

42
Skin, Eye

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

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

(show all 13)
# 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
Efficient intradermal delivery of superoxide dismutase using a combination of liposomes and iontophoresis for protection against UV-induced skin damage. ( 22687417 )
2012
5
Kynurenine Pathway in Skin Cells: Implications for UV-Induced Skin Damage. ( 22837645 )
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
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. ( 16463023 )
2006
11
Topical application of a novel, water-soluble gamma-tocopherol derivative prevents UV-induced skin damage in mice. ( 15745421 )
2005
12
Natural phenolics in the prevention of UV-induced skin damage. A review. ( 15037894 )
2003
13
UV-induced skin damage. ( 12821280 )
2003

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

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MC1R NM_002386.3(MC1R): c.440_442delTCT (p.Phe147del) deletion risk factor GRCh37 Chromosome 16, 89986106: 89986108
2 MC1R NM_002386.3(MC1R): c.440_442delTCT (p.Phe147del) deletion risk factor GRCh38 Chromosome 16, 89919698: 89919700
3 MC1R NM_002386.3(MC1R): c.470C> T (p.Thr157Ile) single nucleotide variant risk factor rs104894524 GRCh37 Chromosome 16, 89986136: 89986136
4 MC1R NM_002386.3(MC1R): c.470C> T (p.Thr157Ile) single nucleotide variant risk factor rs104894524 GRCh38 Chromosome 16, 89919728: 89919728
5 MC1R NM_002386.3(MC1R): c.475C> A (p.Pro159Thr) single nucleotide variant risk factor rs104894523 GRCh37 Chromosome 16, 89986141: 89986141
6 MC1R NM_002386.3(MC1R): c.475C> A (p.Pro159Thr) single nucleotide variant risk factor rs104894523 GRCh38 Chromosome 16, 89919733: 89919733
7 MC1R NM_002386.3(MC1R): c.583T> G (p.Phe195Val) single nucleotide variant Uncertain significance rs377580634 GRCh38 Chromosome 16, 89919841: 89919841
8 MC1R NM_002386.3(MC1R): c.583T> G (p.Phe195Val) single nucleotide variant Uncertain significance rs377580634 GRCh37 Chromosome 16, 89986249: 89986249
9 MC1R NM_002386.3(MC1R): c.112G> A (p.Val38Met) single nucleotide variant Uncertain significance rs200050206 GRCh38 Chromosome 16, 89919370: 89919370
10 MC1R NM_002386.3(MC1R): c.112G> A (p.Val38Met) single nucleotide variant Uncertain significance rs200050206 GRCh37 Chromosome 16, 89985778: 89985778
11 MC1R NM_002386.3(MC1R): c.104G> A (p.Cys35Tyr) single nucleotide variant Uncertain significance rs779504604 GRCh37 Chromosome 16, 89985770: 89985770
12 MC1R NM_002386.3(MC1R): c.104G> A (p.Cys35Tyr) single nucleotide variant Uncertain significance rs779504604 GRCh38 Chromosome 16, 89919362: 89919362
13 MC1R NM_002386.3(MC1R): c.265G> C (p.Gly89Arg) single nucleotide variant Uncertain significance rs34540312 GRCh37 Chromosome 16, 89985931: 89985931
14 MC1R NM_002386.3(MC1R): c.265G> C (p.Gly89Arg) single nucleotide variant Uncertain significance rs34540312 GRCh38 Chromosome 16, 89919523: 89919523
15 MC1R NM_002386.3(MC1R): c.332C> T (p.Ala111Val) single nucleotide variant Uncertain significance rs201489928 GRCh37 Chromosome 16, 89985998: 89985998
16 MC1R NM_002386.3(MC1R): c.332C> T (p.Ala111Val) single nucleotide variant Uncertain significance rs201489928 GRCh38 Chromosome 16, 89919590: 89919590
17 MC1R NM_002386.3(MC1R): c.766C> T (p.Pro256Ser) single nucleotide variant Uncertain significance rs200215218 GRCh37 Chromosome 16, 89986432: 89986432
18 MC1R NM_002386.3(MC1R): c.766C> T (p.Pro256Ser) single nucleotide variant Uncertain significance rs200215218 GRCh38 Chromosome 16, 89920024: 89920024

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
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10 dbSNP
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17 EFO
18 ExPASy
20 FMA
29 GO
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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