MCID: SKN064
MIFTS: 13

Skin/hair/eye Pigmentation, Variation in, 6

Categories: 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 40
Shep6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
skin/hair/eye pigmentation, variation in, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 210750
MedGen 42 C2673866
SNOMED-CT via HPO 69 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 skin and eye, and related phenotype is abnormality of the hair.

Description from OMIM: 210750

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

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

Symptoms via clinical synopsis from OMIM:

57
Hair:
blond


Clinical features from OMIM:

210750

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the hair 32 HP:0001595

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:

41
Skin, Eye

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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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