MCID: WRD016
MIFTS: 32

Waardenburg Syndrome Type Ivb malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Eye diseases, Ear diseases, Skin diseases, Gastrointestinal diseases categories
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Summaries for Waardenburg Syndrome Type Ivb

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MalaCards based summary: Waardenburg Syndrome Type Ivb, also known as waardenburg syndrome, type 4b, is related to waardenburg's syndrome and melanoma, and has symptoms including An important gene associated with Waardenburg Syndrome Type Ivb is EDN3 (endothelin 3). The compounds tyrosine and oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and embryogenesis.

Description from OMIM:46 613265

Aliases & Classifications for Waardenburg Syndrome Type Ivb

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Waardenburg Syndrome Type Ivb, Aliases & Descriptions:

Name: Waardenburg Syndrome Type Ivb 20 22
Waardenburg Syndrome, Type 4b 46
 
Waardenburg Syndrome, Type I 62


Classifications:



Related Diseases for Waardenburg Syndrome Type Ivb

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Symptoms for Waardenburg Syndrome Type Ivb

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Symptoms by clinical synopsis from OMIM:

613265

Clinical features from OMIM:

613265

HPO human phenotypes related to Waardenburg Syndrome Type Ivb:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 sensorineural hearing impairment HP:0000407
4 blue irides HP:0000635
5 hypopigmented skin patches HP:0001053
6 heterochromia iridis HP:0001100
7 heterogeneous HP:0001425
8 white forelock HP:0002211
9 premature graying of hair HP:0002216
10 white eyebrow HP:0002226
11 white eyelashes HP:0002227
12 aganglionic megacolon HP:0002251

Drugs & Therapeutics for Waardenburg Syndrome Type Ivb

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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

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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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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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MGI Mouse Phenotypes related to Waardenburg Syndrome Type Ivb:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1PAX3, EDN3
2MP:00053809.1PAX3, EDN3
3MP:00053819.0PAX3, EDN3
4MP:00107718.8PAX3, EDN3

Publications for Waardenburg Syndrome Type Ivb

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Variations for Waardenburg Syndrome Type Ivb

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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:

6
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

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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

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Compounds for genes affiliated with Waardenburg Syndrome Type Ivb

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Sources:
44Novoseek
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Compounds related to Waardenburg Syndrome Type Ivb according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine449.1PAX3, EDN3
2oligonucleotide448.8PAX3, EDN3

GO Terms for genes affiliated with Waardenburg Syndrome Type Ivb

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Biological processes related to Waardenburg Syndrome Type Ivb according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferationGO:0082849.1PAX3, EDN3
2neural crest cell migrationGO:0017558.8PAX3, EDN3

Products for genes affiliated with Waardenburg Syndrome Type Ivb

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet