Skin/hair/eye Pigmentation, Variation in, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 1:

Name: Skin/hair/eye Pigmentation, Variation in, 1 ⁵⁷ ²⁹ ⁶

Skin/hair/eye Pigmentation 1, Blue/brown Eyes ⁵⁷

Eye Color, Blue/nonblue ⁵⁷

Brown Eye Color 2; Bey2 ⁵⁷

Eye Color, Brown/blue ⁵⁷

Eye Color 3; Eycl3 ⁵⁷

Hair Color 3; Hcl3 ⁵⁷

Brown Eye Color 2 ⁵⁷

Hair Color 3 ⁵⁷

Eye Color 3 ⁵⁷

Shep1 ⁵⁷

Eycl3 ⁵⁷

Bey2 ⁵⁷

Hcl3 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive at bey locus
eye color probably polygenic

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 227220

MedGen ⁴² C1856895

SNOMED-CT via HPO ⁶⁹ 19416009 371405004 371409005

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Summaries for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 1, also known as skin/hair/eye pigmentation 1, blue/brown eyes, is related to albinism, oculocutaneous, type vi and prader-willi syndrome. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 1 is OCA2 (OCA2 Melanosomal Transmembrane Protein). Affiliated tissues include eye and skin, and related phenotypes are abnormality of the eye and adipose tissue

Description from OMIM: 227220

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Related Diseases for Skin/hair/eye Pigmentation, Variation in, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	albinism, oculocutaneous, type vi	11.0
2	prader-willi syndrome	9.0	HERC2 OCA2

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Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Eyes:
blue color recessive to brown

Clinical features from OMIM:

227220

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 1:

³²

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of the eye ³²		HP:0000478

MGI Mouse Phenotypes related to Skin/hair/eye Pigmentation, Variation in, 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue	MP:0005375	8.62	HERC2 OCA2

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Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 1

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 1

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Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 1

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 1:

#	Genetic test	Affiliating Genes
1	Skin/hair/eye Pigmentation, Variation in, 1 ²⁹	HERC2 OCA2

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Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 1:

⁴¹

Eye, Skin

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Publications for Skin/hair/eye Pigmentation, Variation in, 1

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Genes for Skin/hair/eye Pigmentation, Variation in, 1

Genes related to Skin/hair/eye Pigmentation, Variation in, 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OCA2	OCA2 Melanosomal Transmembrane Protein	Protein Coding	1069.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Variants (show sections)	17236130 17952075 12163334 (more) 15889046 18252222
2	HERC2	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	669.16	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Variants (show sections)

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Variations for Skin/hair/eye Pigmentation, Variation in, 1

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 1:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	OCA2	NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)	single nucleotide variant	Pathogenic	rs121918166	GRCh37	Chromosome 15, 28230247: 28230247
2	OCA2	NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)	single nucleotide variant	Pathogenic	rs121918166	GRCh38	Chromosome 15, 27985101: 27985101
3	HERC2	NM_004667.5(HERC2): c.7729G> A (p.Val2577Ile)	single nucleotide variant	Uncertain significance	rs146366728	GRCh37	Chromosome 15, 28443903: 28443903
4	HERC2	NM_004667.5(HERC2): c.7729G> A (p.Val2577Ile)	single nucleotide variant	Uncertain significance	rs146366728	GRCh38	Chromosome 15, 28198757: 28198757
5	HERC2	NM_004667.5(HERC2): c.4651A> C (p.Ile1551Leu)	single nucleotide variant	Uncertain significance	rs200864382	GRCh38	Chromosome 15, 28233170: 28233170
6	HERC2	NM_004667.5(HERC2): c.4651A> C (p.Ile1551Leu)	single nucleotide variant	Uncertain significance	rs200864382	GRCh37	Chromosome 15, 28478316: 28478316

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Expression for Skin/hair/eye Pigmentation, Variation in, 1

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 1.

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Pathways for Skin/hair/eye Pigmentation, Variation in, 1

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GO Terms for Skin/hair/eye Pigmentation, Variation in, 1

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Sources for Skin/hair/eye Pigmentation, Variation in, 1

¹ BioSystems

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