MCID: WRD016
MIFTS: 20

Waardenburg Syndrome Type Ivb malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases categories
Download this MalaCard

Summaries for Waardenburg Syndrome Type Ivb

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Waardenburg Syndrome Type Ivb, is also known as waardenburg syndrome, type 4b An important gene associated with Waardenburg Syndrome Type Ivb is EDN3 (endothelin 3). Affiliated tissues include eye.

Description from OMIM:47 613265

Aliases & Classifications for Waardenburg Syndrome Type Ivb

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
See all sources

Classifications:



Aliases & Descriptions:

waardenburg syndrome type ivb 20 22
waardenburg syndrome, type 4b 47 62
waardenburg syndrome, type i 62


Related Diseases for Waardenburg Syndrome Type Ivb

About this section

Symptoms for Waardenburg Syndrome Type Ivb

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

613265

Clinical features from OMIM:

613265

Drugs & Therapeutics for Waardenburg Syndrome Type Ivb

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome Type Ivb

Search NIH Clinical Center for Waardenburg Syndrome Type Ivb

Genetic Tests for Waardenburg Syndrome Type Ivb

About this section
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

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Waardenburg Syndrome Type Ivb:

33
Eye

Animal Models for Waardenburg Syndrome Type Ivb or affiliated genes

About this section

Publications for Waardenburg Syndrome Type Ivb

About this section

Variations for Waardenburg Syndrome Type Ivb

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
id Symbol AA change Variation ID SNP ID
1EDN3p.Cys159PheVAR_002353
2EDN3p.Tyr127CysVAR_015238

Clinvar genetic disease variations for Waardenburg Syndrome Type Ivb:

1
id Gene Name Type Significance SNP ID Assembly Location
1EDN3EDN3, 262GC-Tundetermined variantPathogenic
2EDN3NM_000114.2(EDN3): c.476G> T (p.Cys159Phe)single nucleotide variantPathogenicrs74315384GRCh37Chr 20, 57896182: 57896182
3EDN3NM_000114.2(EDN3): c.507C> A (p.Cys169Ter)single nucleotide variantPathogenicrs74315385GRCh37Chr 20, 57896213: 57896213
4EDN3NM_000114.2(EDN3): c.335A> G (p.His112Arg)single nucleotide variantPathogenicrs267606778GRCh37Chr 20, 57876747: 57876747
5EDN3NM_000114.2(EDN3): c.277C> G (p.Arg93Gly)single nucleotide variantPathogenicrs267606779GRCh37Chr 20, 57876689: 57876689
6PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
7PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
8PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
9PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851

Expression for genes affiliated with Waardenburg Syndrome Type Ivb

About this section
Sources:
2BioGPS, 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

About this section

Compounds for genes affiliated with Waardenburg Syndrome Type Ivb

About this section

GO Terms for genes affiliated with Waardenburg Syndrome Type Ivb

About this section

Products for genes affiliated with Waardenburg Syndrome Type Ivb

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Waardenburg Syndrome Type Ivb

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet