MCID: WRD026
MIFTS: 18

Waardenburg Syndrome, Type 2c

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 57 13 73
Waardenburg Syndrome Type 2c 12 29 15
Ws2c 57 12
Waardenburg Syndrome, Type Iic 57
Waardenburg Syndrome Type Iic 12

Classifications:



External Ids:

OMIM 57 606662
Disease Ontology 12 DOID:0110951
UMLS 73 C1847722

Summaries for Waardenburg Syndrome, Type 2c

OMIM : 57 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 29

Anatomical Context for Waardenburg Syndrome, Type 2c

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

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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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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