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SHEP3
MCID: SKN068
MIFTS: 27

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

Categories: Genetic diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 3

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

Name: Skin/hair/eye Pigmentation, Variation in, 3 56 29 6
Skin/hair/eye Pigmentation 3, Blue/green Eyes 56 6
Skin/hair/eye Pigmentation 3, Light/dark/freckling Skin 56
Melanoma, Cutaneous Malignant, Susceptibility to, 8 56
Skin/hair/eye Pigmentation 3, Blue/green Eye Color 56
Skin/hair/eye Pigmentation 3, Light/dark Skin 56
Melanoma, Cutaneous Malignant 8 56
Eye Color, Green/blue; Gey 56
Eye Color, Green/blue 56
Eye Color 1; Eycl1 56
Eye Color 1 56
Shep3 56
Eycl1 56
Gey 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
skin/hair/eye pigmentation, variation in, 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 601800
OMIM Phenotypic Series 56 PS227220
MedGen 41 C2677190
SNOMED-CT via HPO 68 263681008 403536009 699225003
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Summaries for Skin/hair/eye Pigmentation, Variation in, 3

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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, and related phenotype is freckling.

More information from OMIM: 601800 PS227220
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Related Diseases for Skin/hair/eye Pigmentation, Variation in, 3

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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 41)
# 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 10.6
4 gastrointestinal stromal tumor 10.5
5 neutropenia 10.4
6 psychotic disorder 10.4
7 sarcoma 10.3
8 spindle cell sarcoma 10.2
9 stomatitis 10.2
10 osteogenic sarcoma 10.2
11 sarcoma, synovial 10.2
12 myxoid liposarcoma 10.2
13 bone sarcoma 10.2
14 malignant fibrous histiocytoma 10.2
15 leiomyosarcoma 10.2
16 liposarcoma 10.2
17 granulocytopenia 10.2
18 suppressor of tumorigenicity 3 10.0
19 chondrosarcoma 10.0
20 chordoma 10.0
21 anxiety 10.0
22 kala-azar 1 10.0
23 ewing sarcoma 10.0
24 chikungunya 10.0
25 exanthem 10.0
26 mucositis 10.0
27 japanese encephalitis 10.0
28 social phobia 10.0
29 dengue disease 10.0
30 rift valley fever 10.0
31 coccidioidomycosis 10.0
32 mental depression 10.0
33 post-traumatic stress disorder 10.0
34 bone giant cell tumor 10.0
35 panic disorder 10.0
36 malignant peripheral nerve sheath tumor 10.0
37 acute stress disorder 10.0
38 leishmaniasis 10.0
39 encephalitis 10.0
40 heavy metal poisoning 10.0
41 depression 10.0

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

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

31
# Description HPO Frequency HPO Source Accession
1 freckling 31 HP:0001480

Symptoms via clinical synopsis from OMIM:

56
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
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Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 3

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

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

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

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

40
Eye, Skin
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Publications for Skin/hair/eye Pigmentation, Variation in, 3

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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. 56 6
18488027 2008
2
Two newly identified genetic determinants of pigmentation in Europeans. 56 6
18488028 2008
3
A genomewide association study of skin pigmentation in a South Asian population. 56 6
17999355 2007
4
Genetic determinants of hair, eye and skin pigmentation in Europeans. 56 6
17952075 2007
5
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 6
23504663 2013
6
Genome-wide association study identifies three loci associated with melanoma risk. 56
19578364 2009
7
Oculocutaneous albinism spectrum. 6
19533789 2009
8
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 6
19208379 2009
9
A new hypothesis of OCA1B. 6
18925668 2008
10
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 6
18326704 2008
11
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. 56
17182896 2007
12
Identifying genes underlying skin pigmentation differences among human populations. 56
16977434 2007
13
Sequences associated with human iris pigmentation. 56
14704187 2003
14
Skin pigmentation, biogeographical ancestry and admixture mapping. 56
12579416 2003
15
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 6
10766867 2000
16
Hemispheric difference in human skin color. 56
9453695 1997
17
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 6
9158138 1997
18
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 6
7704033 1995
19
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 6
1899321 1991
20
Major genes of eye color and hair color linked to LU and SE. 56
3568446 1987
21
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 6
666627 1978
22
Arthrobacter siccitolerans sp. nov., a highly desiccation-tolerant, xeroprotectant-producing strain isolated from dry soil. 61
23771623 2013
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Variations for Skin/hair/eye Pigmentation, Variation in, 3

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

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)SNV Pathogenic 3774 rs61754388 11:88961072-88961072 11:89227904-89227904
2 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)SNV Pathogenic 3775 rs121908011 11:88961101-88961101 11:89227933-89227933
3 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)SNV Pathogenic 3790 rs28940879 11:88911285-88911285 11:89178117-89178117
4 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
5 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter)SNV Pathogenic 99565 rs61753256 11:88911467-88911467 11:89178299-89178299
6 TYR NM_000372.5(TYR):c.832C>T (p.Arg278Ter)SNV Pathogenic 99583 rs62645904 11:88924382-88924382 11:89191214-89191214
7 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
8 TYR NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)SNV Pathogenic/Likely pathogenic 99541 rs62645916 11:89017955-89017955 11:89284787-89284787
9 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp)SNV Pathogenic/Likely pathogenic 3794 rs61753180 11:88911261-88911261 11:89178093-89178093
10 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe)SNV Pathogenic/Likely pathogenic 3773 rs104894314 11:88924373-88924373 11:89191205-89191205
11 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)SNV Pathogenic/Likely pathogenic 3777 rs104894313 11:89017973-89017973 11:89284805-89284805
12 TYR NM_000372.5(TYR):c.649C>T (p.Arg217Trp)SNV Likely pathogenic 3795 rs63159160 11:88911770-88911770 11:89178602-89178602
13 TYR NM_000372.5(TYR):c.915C>A (p.Asp305Glu)SNV Conflicting interpretations of pathogenicity 418532 rs142170797 11:88924465-88924465 11:89191297-89191297
14 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)SNV Conflicting interpretations of pathogenicity, other 3779 rs1126809 11:89017961-89017961 11:89284793-89284793
15 TYR NM_000372.5(TYR):c.1366+4A>GSNV Uncertain significance 99548 rs61754398 11:89018126-89018126 11:89284958-89284958
16 TYR NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)SNV Benign 3778 rs1042602 11:88911696-88911696 11:89178528-89178528
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Expression for Skin/hair/eye Pigmentation, Variation in, 3

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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