SHEP3
MCID: SKN068
MIFTS: 21

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 58 30 6
Skin/hair/eye Pigmentation 3, Blue/green Eyes 58 6
Skin/hair/eye Pigmentation 3, Light/dark/freckling Skin 58
Melanoma, Cutaneous Malignant, Susceptibility to, 8 58
Skin/hair/eye Pigmentation 3, Blue/green Eye Color 58
Skin/hair/eye Pigmentation 3, Light/dark Skin 58
Melanoma, Cutaneous Malignant 8 58
Eye Color, Green/blue; Gey 58
Eye Color, Green/blue 58
Eye Color 1; Eycl1 58
Eye Color 1 58
Shep3 58
Eycl1 58
Gey 58

Classifications:



External Ids:

OMIM 58 601800

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.

Description from OMIM: 601800

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

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

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 30 TYR

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

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

42
Eye, Skin

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

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

(show all 14)
# Title Authors Year
1
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. ( 23504663 )
2013
2
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
3
Oculocutaneous albinism spectrum. ( 19533789 )
2009
4
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ( 18326704 )
2008
5
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. ( 18488027 )
2008
6
A new hypothesis of OCA1B. ( 18925668 )
2008
7
Two newly identified genetic determinants of pigmentation in Europeans. ( 18488028 )
2008
8
Genetic determinants of hair, eye and skin pigmentation in Europeans. ( 17952075 )
2007
9
A genomewide association study of skin pigmentation in a South Asian population. ( 17999355 )
2007
10
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. ( 10766867 )
2000
11
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). ( 9158138 )
1997
12
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. ( 7704033 )
1995
13
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. ( 1899321 )
1991
14
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. ( 666627 )
1978

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

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 GRCh37 Chromosome 11, 88924373: 88924373
2 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 GRCh38 Chromosome 11, 89191205: 89191205
3 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
4 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
5 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh37 Chromosome 11, 88961101: 88961101
6 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh38 Chromosome 11, 89227933: 89227933
7 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
8 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
9 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1042602 GRCh37 Chromosome 11, 88911696: 88911696
10 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1042602 GRCh38 Chromosome 11, 89178528: 89178528
11 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh37 Chromosome 11, 89017961: 89017961
12 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh38 Chromosome 11, 89284793: 89284793
13 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh37 Chromosome 11, 88911285: 88911285
14 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh38 Chromosome 11, 89178117: 89178117
15 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 GRCh37 Chromosome 11, 88911261: 88911261
16 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 GRCh38 Chromosome 11, 89178093: 89178093
17 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 GRCh37 Chromosome 11, 88911770: 88911770
18 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 GRCh38 Chromosome 11, 89178602: 89178602
19 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
20 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
21 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
22 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
23 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 GRCh37 Chromosome 11, 89017955: 89017955
24 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 GRCh38 Chromosome 11, 89284787: 89284787
25 TYR NM_000372.4(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 GRCh37 Chromosome 11, 89018126: 89018126
26 TYR NM_000372.4(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 GRCh38 Chromosome 11, 89284958: 89284958
27 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh37 Chromosome 11, 88911467: 88911467
28 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh38 Chromosome 11, 89178299: 89178299
29 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh37 Chromosome 11, 88924382: 88924382
30 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh38 Chromosome 11, 89191214: 89191214
31 TYR NM_000372.4(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Uncertain significance rs142170797 GRCh38 Chromosome 11, 89191297: 89191297
32 TYR NM_000372.4(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Uncertain significance rs142170797 GRCh37 Chromosome 11, 88924465: 88924465

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

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