MCID: WRD016
MIFTS: 20

Waardenburg Syndrome Type Ivb malady

Summaries for Waardenburg Syndrome Type Ivb

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46OMIM, 32MalaCards
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MalaCards: Waardenburg Syndrome Type Ivb, also known as waardenburg syndrome, type 4b, is related to waardenburg syndrome type i and cleft lip. An important gene associated with Waardenburg Syndrome Type Ivb is EDN3 (endothelin 3). Affiliated tissues include eye.

Description from OMIM:46 613265

Aliases & Classifications for Waardenburg Syndrome Type Ivb

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20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

waardenburg syndrome type ivb 20 22
waardenburg syndrome, type 4b 46 60
waardenburg syndrome, type i 60


Related Diseases for Waardenburg Syndrome Type Ivb

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Waardenburg Syndrome Type Ivb:



Diseases related to waardenburg syndrome type ivb

Clinical Features for Waardenburg Syndrome Type Ivb

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46OMIM
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Clinical features from OMIM:

613265

Clinical synopsis from OMIM:

613265

Drugs & Therapeutics for Waardenburg Syndrome Type Ivb

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type Ivb:

32
Eye

Animal Models for Waardenburg Syndrome Type Ivb or affiliated genes

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Publications for Waardenburg Syndrome Type Ivb

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Genetic Variations for Waardenburg Syndrome Type Ivb

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Waardenburg Syndrome Type Ivb:

62
id Symbol AA change Variation ID SNP ID
1EDN3p.Cys159PheVAR_002353
2EDN3p.Tyr127CysVAR_015238

Expression for genes affiliated with Waardenburg Syndrome Type Ivb

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

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Pathways for genes affiliated with Waardenburg Syndrome Type Ivb

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Compounds for genes affiliated with Waardenburg Syndrome Type Ivb

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GO Terms for genes affiliated with Waardenburg Syndrome Type Ivb

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Products for genes affiliated with Waardenburg Syndrome Type Ivb

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Waardenburg Syndrome Type Ivb

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet