Skin/hair/eye Pigmentation, Variation in, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 601800 PS227220

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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

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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:

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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

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

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

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

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

⁴¹

Eye, Skin

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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	Gudbjartsson DF...Stefansson K	18488027	2008
2	Two newly identified genetic determinants of pigmentation in Europeans. ⁸ ⁷¹	Sulem P...Stefansson K	18488028	2008
3	Genetic determinants of hair, eye and skin pigmentation in Europeans. ⁸ ⁷¹	Sulem P...Stefansson K	17952075	2007
4	A genomewide association study of skin pigmentation in a South Asian population. ⁸ ⁷¹	Stokowski RP...Cox DR	17999355	2007
5	DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. ⁷¹	Simeonov DR...Adams DR	23504663	2013
6	Genome-wide association study identifies three loci associated with melanoma risk. ⁸	Bishop DT...Bishop JA	19578364	2009
7	Oculocutaneous albinism spectrum. ⁷¹	Chiang PW...Tsai AC	19533789	2009
8	The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ⁷¹	Oetting WS...King RA	19208379	2009
9	A new hypothesis of OCA1B. ⁷¹	Chiang PW...Clericuzio CL	18925668	2008
10	A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ⁷¹	Hutton SM...Spritz RA	18326704	2008
11	Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. ⁸	Norton HL...Shriver MD	17182896	2007
12	Identifying genes underlying skin pigmentation differences among human populations. ⁸	Myles S...Stoneking M	16977434	2007
13	Sequences associated with human iris pigmentation. ⁸	Frudakis T...Ponnuswamy KN	14704187	2003
14	Skin pigmentation, biogeographical ancestry and admixture mapping. ⁸	Shriver MD...Kittles RA	12579416	2003
15	A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. ⁷¹	Berson JF...Marks MS	10766867	2000
16	Hemispheric difference in human skin color. ⁸	Relethford JH	9453695	1997
17	Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). ⁷¹	Morell R...Asher JH	9158138	1997
18	Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. ⁷¹	Fukai K...Spritz RA	7704033	1995
19	Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. ⁷¹	Spritz RA...Francke U	1899321	1991
20	Major genes of eye color and hair color linked to LU and SE. ⁸	Eiberg H...Mohr J	3568446	1987
21	Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. ⁷¹	Bard LA	666627	1978
22	Arthrobacter siccitolerans sp. nov., a highly desiccation-tolerant, xeroprotectant-producing strain isolated from dry soil. ³⁸	Santacruz-Calvo L...Manzanera M	23771623	2013

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

Genes related to Skin/hair/eye Pigmentation, Variation in, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TYR	Tyrosinase	Protein Coding	1069.8	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Variants (show sections)	18488027 18488028 23504663 (more) 19533789 19208379 666627 1899321 18925668 17952075 17999355 18326704 7704033 10766867 9158138
2	LOC107984363	Uncharacterized LOC107984363	RNA Gene	9.58	GeneCards inferred via : Variants (show sections)

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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

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

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

¹ BioSystems

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

³⁷ KEGG

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⁴¹ MalaCards

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

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

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

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

Characteristics:

OMIM:

Classifications:

External Ids:

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

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

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

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

Graphical network of the top 20 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:

Clinical features from OMIM:

Drugs & Therapeutics 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:

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

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

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

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

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

Genes related to Skin/hair/eye Pigmentation, Variation in, 3 (1 elite genes):

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

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

Expression 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