MCID: WRD026
MIFTS: 18

Waardenburg Syndrome, Type 2c

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

Aliases & Classifications for Waardenburg Syndrome, Type 2c

MalaCards integrated aliases for Waardenburg Syndrome, Type 2c:

Name: Waardenburg Syndrome, Type 2c 53 13 69
Waardenburg Syndrome Type 2c 12 28
Ws2c 53 12
Waardenburg Syndrome, Type Iic 53
Waardenburg Syndrome Type Iic 12

Classifications:



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OMIM 53 606662
Disease Ontology 12 DOID:0110951
UMLS 69 C1847722

Summaries for Waardenburg Syndrome, Type 2c

OMIM : 53 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, also known as waardenburg syndrome type 2c, is related to waardenburg's syndrome. 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

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 2c via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 waardenburg's syndrome 10.9

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 28

Anatomical Context for Waardenburg Syndrome, Type 2c

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

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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