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 52 12 68
Waardenburg Syndrome Type Iib 24 27
 
Waardenburg Syndrome Type 2b 48
Ws2b 48

Classifications:



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OMIM52 600193

Summaries for Waardenburg Syndrome, Type 2b

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OMIM:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the face64 HP:0000271
2 sensorineural hearing impairment64 HP:0000407
3 heterochromia iridis64 HP:0001100
4 white forelock64 HP:0002211
5 premature graying of hair64 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 2b27
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:

36
Skin, Eye

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
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