MCID: WRD026
MIFTS: 19

Waardenburg Syndrome, Type 2c malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 2c

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Aliases & Descriptions for Waardenburg Syndrome, Type 2c:

Name: Waardenburg Syndrome, Type 2c 52 12 68
Waardenburg Syndrome Type Iic 11 24 27
 
Waardenburg Syndrome Type 2c 11
Ws2c 11

Classifications:



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OMIM52 606662
Disease Ontology11 DOID:0110951

Summaries for Waardenburg Syndrome, Type 2c

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OMIM:52 Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the... (606662) more...

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

Disease Ontology:11 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

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Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
waardenburg syndrome, type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a 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:

idRelated DiseaseScoreTop Affiliating Genes
1waardenburg's syndrome11.0
2waardenburg syndrome, type 2a10.8

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2c

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Clinical features from OMIM:

606662

Drugs & Therapeutics for Waardenburg Syndrome, Type 2c

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Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome, Type 2c

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Genetic tests related to Waardenburg Syndrome, Type 2c:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2c27
2 Waardenburg Syndrome Type Iic24

Anatomical Context for Waardenburg Syndrome, Type 2c

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

36
Skin, Eye

Publications for Waardenburg Syndrome, Type 2c

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Variations for Waardenburg Syndrome, Type 2c

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Expression for genes affiliated with Waardenburg Syndrome, Type 2c

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 2c

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GO Terms for genes affiliated with Waardenburg Syndrome, Type 2c

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Sources for Waardenburg Syndrome, Type 2c

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet