SHEP6
MCID: SKN064
MIFTS: 14

Skin/hair/eye Pigmentation, Variation in, 6 (SHEP6)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 6

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 6:

Name: Skin/hair/eye Pigmentation, Variation in, 6 57 29 6
Pigmentation, Skin/hair/eye, Variation in, Type 6 39
Shep6 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
skin/hair/eye pigmentation, variation in, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 210750
OMIM Phenotypic Series 57 PS227220
MedGen 41 C2673866
SNOMED-CT via HPO 68 258211005

Summaries for Skin/hair/eye Pigmentation, Variation in, 6

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 6, is also known as pigmentation, skin/hair/eye, variation in, type 6. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 6 is SLC24A4 (Solute Carrier Family 24 Member 4). Affiliated tissues include eye and skin, and related phenotype is abnormal hair morphology.

More information from OMIM: 210750 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 6

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 6

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 6:

31
# Description HPO Frequency HPO Source Accession
1 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hair:
blond

Clinical features from OMIM®:

210750 (Updated 05-Apr-2021)

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 6

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 6

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 6

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 6:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 6 29 SLC24A4

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 6

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 6:

40
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 6

Articles related to Skin/hair/eye Pigmentation, Variation in, 6:

# Title Authors PMID Year
1
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6 57
17952075 2007
2
Gene-gene interactions contribute to eye colour variation in humans. 57
21471978 2011

Variations for Skin/hair/eye Pigmentation, Variation in, 6

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC24A4 NC_000014.8:g.92773663G>T SNV association 1420 rs12896399 GRCh37: 14:92773663-92773663
GRCh38: 14:92307319-92307319

Expression for Skin/hair/eye Pigmentation, Variation in, 6

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 6.

Pathways for Skin/hair/eye Pigmentation, Variation in, 6

GO Terms for Skin/hair/eye Pigmentation, Variation in, 6

Sources for Skin/hair/eye Pigmentation, Variation in, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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