WS2C
MCID: WRD026
MIFTS: 17

Waardenburg Syndrome, Type 2c (WS2C)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Waardenburg Syndrome, Type 2c

MalaCards integrated aliases for Waardenburg Syndrome, Type 2c:

Name: Waardenburg Syndrome, Type 2c 58 13 74
Waardenburg Syndrome Type 2c 12 30 15
Ws2c 58 12
Waardenburg Syndrome, Type Iic 58
Waardenburg Syndrome Type Iic 12

Classifications:



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Disease Ontology 12 DOID:0110951
OMIM 58 606662
UMLS 74 C1847722

Summaries for Waardenburg Syndrome, Type 2c

OMIM : 58 Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Selicorni et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). (606662)

MalaCards based summary : Waardenburg Syndrome, Type 2c, is also known as waardenburg syndrome type 2c. An important gene associated with Waardenburg Syndrome, Type 2c is WS2C (Waardenburg Syndrome, Type IIC). Affiliated tissues include skin and eye.

Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.

Related Diseases for Waardenburg Syndrome, Type 2c

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2c

Clinical features from OMIM:

606662

Drugs & Therapeutics for Waardenburg Syndrome, Type 2c

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome, Type 2c

Genetic Tests for Waardenburg Syndrome, Type 2c

Genetic tests related to Waardenburg Syndrome, Type 2c:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2c 30

Anatomical Context for Waardenburg Syndrome, Type 2c

MalaCards organs/tissues related to Waardenburg Syndrome, Type 2c:

42
Skin, Eye

Publications for Waardenburg Syndrome, Type 2c

Variations for Waardenburg Syndrome, Type 2c

Expression for Waardenburg Syndrome, Type 2c

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2c.

Pathways for Waardenburg Syndrome, Type 2c

GO Terms for Waardenburg Syndrome, Type 2c

Sources for Waardenburg Syndrome, Type 2c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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