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

Aliases & Descriptions for Waardenburg Syndrome, Type 2c:

Name: Waardenburg Syndrome, Type 2c 54 13 69
Waardenburg Syndrome Type Iic 12 24 29
Waardenburg Syndrome Type 2c 12
Ws2c 12

Classifications:



External Ids:

OMIM 54 606662
Disease Ontology 12 DOID:0110951

Summaries for Waardenburg Syndrome, Type 2c

OMIM : 54 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 : 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 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:

id Related Disease Score Top Affiliating Genes
1 waardenburg's syndrome 11.0
2 waardenburg syndrome, type 2a 10.8

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:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2c 29
2 Waardenburg Syndrome Type Iic 24

Anatomical Context for Waardenburg Syndrome, Type 2c

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

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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