MCID: WRD029
MIFTS: 21

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 50 12 66
Waardenburg Syndrome Type Iib 23 25
 
Waardenburg Syndrome Type 2b 46
Ws2b 46

Classifications:



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OMIM50 600193

Summaries for Waardenburg Syndrome, Type 2b

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OMIM:50 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's syndrome and 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'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 2b via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms for Waardenburg Syndrome, Type 2b

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Symptoms by clinical synopsis from OMIM:

600193

Clinical features from OMIM:

600193

HPO human phenotypes related to Waardenburg Syndrome, Type 2b:

id Description Frequency HPO Source Accession
1 abnormality of the face HP:0000271
2 sensorineural hearing impairment HP:0000407
3 heterochromia iridis HP:0001100
4 white forelock HP:0002211
5 premature graying of hair 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 2b25
2 Waardenburg Syndrome Type Iib23

Anatomical Context for Waardenburg Syndrome, Type 2b

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

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet