MCID: WRD029
MIFTS: 19

Waardenburg Syndrome, Type 2b malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 2b

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Aliases & Descriptions for Waardenburg Syndrome, Type 2b:

Name: Waardenburg Syndrome, Type 2b 51 12 67
Waardenburg Syndrome Type Iib 24 26
 
Waardenburg Syndrome Type 2b 47
Ws2b 47

Classifications:



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OMIM51 600193

Summaries for Waardenburg Syndrome, Type 2b

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OMIM:51 Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the... (600193) more...

MalaCards based summary: Waardenburg Syndrome, Type 2b, also known as waardenburg syndrome type iib, is related to waardenburg syndrome, type 2a, and has symptoms including abnormality of the face, sensorineural hearing impairment and heterochromia iridis. An important gene associated with Waardenburg Syndrome, Type 2b is WS2B (Waardenburg Syndrome, Type 2B). Affiliated tissues include skin and eye.

Related Diseases for Waardenburg Syndrome, Type 2b

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Diseases in the Waardenburg Syndrome, Type 4a 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 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

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

idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 2a10.8

Symptoms for Waardenburg Syndrome, Type 2b

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Symptoms by clinical synopsis from OMIM:

600193

Clinical features from OMIM:

600193

Human phenotypes related to Waardenburg Syndrome, Type 2b:

 63
id Description HPO Frequency HPO Source Accession
1 abnormality of the face63 HP:0000271
2 sensorineural hearing impairment63 HP:0000407
3 heterochromia iridis63 HP:0001100
4 white forelock63 HP:0002211
5 premature graying of hair63 HP:0002216

Drugs & Therapeutics for Waardenburg Syndrome, Type 2b

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Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome, Type 2b

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Genetic tests related to Waardenburg Syndrome, Type 2b:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2b26
2 Waardenburg Syndrome Type Iib24

Anatomical Context for Waardenburg Syndrome, Type 2b

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

35
Skin, Eye

Animal Models for Waardenburg Syndrome, Type 2b or affiliated genes

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Publications for Waardenburg Syndrome, Type 2b

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Variations for Waardenburg Syndrome, Type 2b

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Expression for genes affiliated with Waardenburg Syndrome, Type 2b

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 2b

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

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Sources for Waardenburg Syndrome, Type 2b

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet