MCID: WRD016
MIFTS: 17

Waardenburg Syndrome Type Ivb malady

Summaries for Waardenburg Syndrome Type Ivb

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Waardenburg Syndrome Type Ivb, also known as waardenburg syndrome, type 4b, is related to waardenburg's syndrome and waardenburg syndrome type i. An important gene associated with Waardenburg Syndrome Type Ivb is EDN3 (endothelin 3).

Description from OMIM:47 613265

Aliases & Classifications for Waardenburg Syndrome Type Ivb

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS
See all sources

Aliases & Descriptions:

waardenburg syndrome type ivb 20 22
waardenburg syndrome, type 4b 47 61
waardenburg syndrome, type i 61


Related Diseases for Waardenburg Syndrome Type Ivb

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Waardenburg Syndrome Type Ivb:



Diseases related to waardenburg syndrome type ivb

Clinical Features for Waardenburg Syndrome Type Ivb

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613265

Clinical synopsis from OMIM:

613265

Drugs & Therapeutics for Waardenburg Syndrome Type Ivb

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Waardenburg Syndrome Type Ivb

Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome Type Ivb

Search NIH Clinical Center for Waardenburg Syndrome Type Ivb

Search CenterWatch for Waardenburg Syndrome Type Ivb

Genetic Tests for Waardenburg Syndrome Type Ivb

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Waardenburg Syndrome Type Ivb:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Ivb20 EDN3
2 Waardenburg Syndrome Type 4b22

Anatomical Context for Waardenburg Syndrome Type Ivb

Animal Models for Waardenburg Syndrome Type Ivb or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Waardenburg Syndrome Type Ivb

Genetic Variations for Waardenburg Syndrome Type Ivb

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Waardenburg Syndrome Type Ivb:

63
id Symbol AA change Variation SNP ID
1EDN3p.Cys159PheVAR_002353
2EDN3p.Tyr127CysVAR_015238

Expression for genes affiliated with Waardenburg Syndrome Type Ivb

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome Type Ivb

Search GEO for disease gene expression data for Waardenburg Syndrome Type Ivb.

Pathways for genes affiliated with Waardenburg Syndrome Type Ivb

Compounds for genes affiliated with Waardenburg Syndrome Type Ivb

GO Terms for genes affiliated with Waardenburg Syndrome Type Ivb

Products for genes affiliated with Waardenburg Syndrome Type Ivb

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Waardenburg Syndrome Type Ivb

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet