SHEP3
MCID: SKN068
MIFTS: 28

Skin/hair/eye Pigmentation, Variation in, 3 (SHEP3)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 3

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 3:

Name: Skin/hair/eye Pigmentation, Variation in, 3 57 29 6
Skin/hair/eye Pigmentation 3, Blue/green Eyes 57 6
Skin/hair/eye Pigmentation 3, Light/dark/freckling Skin 57
Melanoma, Cutaneous Malignant, Susceptibility to, 8 57
Skin/hair/eye Pigmentation 3, Blue/green Eye Color 57
Skin/hair/eye Pigmentation 3, Light/dark Skin 57
Melanoma, Cutaneous Malignant 8 57
Eye Color, Green/blue; Gey 57
Eye Color, Green/blue 57
Eye Color 1; Eycl1 57
Eye Color 1 57
Shep3 57
Eycl1 57
Gey 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
polymorphisms in tyr affect eye color, tanning response, and hair color (brown/blond)


Classifications:



External Ids:

Summaries for Skin/hair/eye Pigmentation, Variation in, 3

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 3, also known as skin/hair/eye pigmentation 3, blue/green eyes, is related to melanoma, cutaneous malignant 8 and muscular dystrophy-dystroglycanopathy , type a, 9. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 3 is TYR (Tyrosinase). Affiliated tissues include eye and skin.

More information from OMIM: 601800 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 3

Diseases in the Skin/hair/eye Pigmentation, Variation in, 2 family:

Skin/hair/eye Pigmentation, Variation in, 6 Skin/hair/eye Pigmentation, Variation in, 1
Skin/hair/eye Pigmentation, Variation in, 5 Skin/hair/eye Pigmentation, Variation in, 3
Skin/hair/eye Pigmentation, Variation in, 7 Skin/hair/eye Pigmentation, Variation in, 8
Skin/hair/eye Pigmentation, Variation in, 9 Skin/hair/eye Pigmentation, Variation in, 10
Skin/hair/eye Pigmentation, Variation in, 11

Diseases related to Skin/hair/eye Pigmentation, Variation in, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 melanoma, cutaneous malignant 8 12.8
2 muscular dystrophy-dystroglycanopathy , type a, 9 11.3
3 soft tissue sarcoma 10.5
4 gastrointestinal stromal tumor 10.5
5 neutropenia 10.4
6 sarcoma 10.3
7 psychotic disorder 10.2
8 spindle cell sarcoma 10.2
9 stomatitis 10.2
10 osteogenic sarcoma 10.1
11 granulocytopenia 10.1
12 bone sarcoma 10.1
13 suppressor of tumorigenicity 3 10.0
14 chondrosarcoma 10.0
15 chordoma 10.0
16 sarcoma, synovial 10.0
17 anxiety 10.0
18 kala-azar 1 10.0
19 ewing sarcoma 10.0
20 myxoid liposarcoma 10.0
21 chikungunya 10.0
22 exanthem 10.0
23 mucositis 10.0
24 japanese encephalitis 10.0
25 social phobia 10.0
26 dengue disease 10.0
27 rift valley fever 10.0
28 coccidioidomycosis 10.0
29 mental depression 10.0
30 leiomyosarcoma 10.0
31 giant cell tumor 10.0
32 post-traumatic stress disorder 10.0
33 liposarcoma 10.0
34 bone giant cell tumor 10.0
35 panic disorder 10.0
36 acute stress disorder 10.0
37 leishmaniasis 10.0
38 encephalitis 10.0
39 heavy metal poisoning 10.0
40 undifferentiated pleomorphic sarcoma 10.0
41 depression 10.0
42 albinism, ocular, with sensorineural deafness 9.4 TYR LOC107984363
43 strabismus 9.2 TYR LOC107984363

Graphical network of the top 20 diseases related to Skin/hair/eye Pigmentation, Variation in, 3:



Diseases related to Skin/hair/eye Pigmentation, Variation in, 3

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
freckling
dark versus light skin
cutaneous sun sensitivity
melanoma susceptibility

Neoplasia:
melanoma susceptibility

Head And Neck Eyes:
blue versus green eye color

Skin Nails Hair Hair:
brown versus blond hair

Clinical features from OMIM:

601800

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 3

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 3

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 3

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 3:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 3 29 TYR

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 3

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 3:

41
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 3

Articles related to Skin/hair/eye Pigmentation, Variation in, 3:

(show all 22)
# Title Authors PMID Year
1
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 8 71
18488027 2008
2
Two newly identified genetic determinants of pigmentation in Europeans. 8 71
18488028 2008
3
Genetic determinants of hair, eye and skin pigmentation in Europeans. 8 71
17952075 2007
4
A genomewide association study of skin pigmentation in a South Asian population. 8 71
17999355 2007
5
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 71
23504663 2013
6
Genome-wide association study identifies three loci associated with melanoma risk. 8
19578364 2009
7
Oculocutaneous albinism spectrum. 71
19533789 2009
8
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 71
19208379 2009
9
A new hypothesis of OCA1B. 71
18925668 2008
10
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 71
18326704 2008
11
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. 8
17182896 2007
12
Identifying genes underlying skin pigmentation differences among human populations. 8
16977434 2007
13
Sequences associated with human iris pigmentation. 8
14704187 2003
14
Skin pigmentation, biogeographical ancestry and admixture mapping. 8
12579416 2003
15
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 71
10766867 2000
16
Hemispheric difference in human skin color. 8
9453695 1997
17
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 71
9158138 1997
18
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 71
7704033 1995
19
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 71
1899321 1991
20
Major genes of eye color and hair color linked to LU and SE. 8
3568446 1987
21
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 71
666627 1978
22
Arthrobacter siccitolerans sp. nov., a highly desiccation-tolerant, xeroprotectant-producing strain isolated from dry soil. 38
23771623 2013

Variations for Skin/hair/eye Pigmentation, Variation in, 3

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 3:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 11:88961072-88961072 11:89227904-89227904
2 TYR NM_000372.5(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 11:88961101-88961101 11:89227933-89227933
3 TYR NM_000372.5(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 11:88911285-88911285 11:89178117-89178117
4 TYR NM_000372.5(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 11:88911122-88911122 11:89177954-89177954
5 TYR NM_000372.5(TYR): c.1037-7T> A single nucleotide variant Pathogenic rs61754381 11:88960984-88960984 11:89227816-89227816
6 TYR NM_000372.5(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 11:88911467-88911467 11:89178299-89178299
7 TYR NM_000372.5(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 11:88924382-88924382 11:89191214-89191214
8 TYR NM_000372.5(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 11:89017955-89017955 11:89284787-89284787
9 TYR NM_000372.5(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 11:88911261-88911261 11:89178093-89178093
10 TYR NM_000372.5(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 11:88924373-88924373 11:89191205-89191205
11 TYR NM_000372.5(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 11:89017973-89017973 11:89284805-89284805
12 TYR NM_000372.5(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 11:88911770-88911770 11:89178602-89178602
13 TYR NM_000372.5(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142170797 11:88924465-88924465 11:89191297-89191297
14 TYR NM_000372.5(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1126809 11:89017961-89017961 11:89284793-89284793
15 TYR NM_000372.5(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 11:89018126-89018126 11:89284958-89284958
16 TYR NM_000372.5(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Benign/Likely benign rs1042602 11:88911696-88911696 11:89178528-89178528

Expression for Skin/hair/eye Pigmentation, Variation in, 3

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 3.

Pathways for Skin/hair/eye Pigmentation, Variation in, 3

GO Terms for Skin/hair/eye Pigmentation, Variation in, 3

Sources for Skin/hair/eye Pigmentation, Variation in, 3

3 CDC
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10 dbSNP
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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