WS 2
MCID: WRD006
MIFTS: 34

Waardenburg Syndrome Type 2 (WS 2) malady

Summaries for Waardenburg Syndrome Type 2

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. about 50 percent of those with waardenburg syndrome type 2 have a hearing impairment or are deaf.  type 2 is one the most common forms of waardenburg syndrome, along with type 1. waardenburg syndrome type 2 may be caused by mutations in the mitf and snai2 genes. this condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait. last updated: 12/9/2011

MalaCards: Waardenburg Syndrome Type 2, also known as waardenburg syndrome, type iia, is related to microphthalmia and albinism. An important gene associated with Waardenburg Syndrome Type 2 is SOX10 (SRY (sex determining region Y)-box 10), and among its related pathways are Melanocyte Development and Pigmentation and Signaling events mediated by Stem cell factor receptor (c-Kit). The compounds kojic acid and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

Aliases & Classifications for Waardenburg Syndrome Type 2

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42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

waardenburg syndrome type 2 42 20 22 60
waardenburg syndrome, type iia 60
ws type 2 42
ws 2 42


Related Diseases for Waardenburg Syndrome Type 2

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17GeneCards, 18GeneDecks
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Diseases in the Waardenburg Syndrome Type I family:

Waardenburg's Syndrome Waardenburg Syndrome Type 4
Waardenburg Syndrome Type 3 waardenburg syndrome type 2
Waardenburg Syndrome Type 2a Waardenburg Syndrome Type 2b
Waardenburg Syndrome Type Iva Waardenburg Syndrome Type Ivb
Waardenburg Syndrome Type Ivc Waardenburg Syndrome Type Iic
Waardenburg Syndrome Type Iie Waardenburg Syndrome Type Iid

Diseases related to Waardenburg Syndrome Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia30.4TFE3, PAX3, MITF, TYR
2albinism30.2TYR
3ocular albinism30.2TYR
4waardenburg syndrome type 2a10.5
5waardenburg syndrome type iid10.3
6waardenburg syndrome, type 2e, with or without neurologic involvement10.3
7waardenburg syndrome type i10.3
8waardenburg syndrome/ocular albinism, digenic10.2
9kidney cancer10.0TFE3
10neurofibroma10.0MITF, SOX10
11malignant peripheral nerve sheath tumor10.0SOX10, MITF
12oculocutaneous albinism10.0TYR
13sensorineural hearing loss10.0MITF, SOX10
14intestinal obstruction10.0EDN3, EDNRB
15glioblastoma multiforme10.0TYR
16central hypoventilation syndrome, congenital, with or without hirschsprung disease10.0EDNRB, EDN3
17perivascular epithelioid cell tumor10.0TFE3, MITF
18adenoma10.0EDN3, EDNRB
19piebaldism10.0PAX3, MITF, SNAI2
20pigmentation disease10.0TYR, MITF
21angiomyolipoma10.0MITF, TYR
22hirschsprung's disease10.0EDN3, EDNRB, SOX10
23retinoblastoma10.0TYR, MITF
24neurilemmoma10.0SOX10, MITF, TYR
25waardenburg syndrome type 410.0EDNRB, SOX10, EDN3, MITF
26osteosarcoma10.0EDNRB, PAX3
27intraocular melanoma10.0MITF, TYR
28developmental disabilities10.0SOX10, TYR, EDNRB
29sarcoma10.0TFE3, TYR, PAX3
30leukemia10.0TYR, TFE3, PAX3
31breast cancer10.0TYR, SNAI2, EDN3, EDNRB
32waardenburg's syndrome9.9MITF, SOX10, TYR, EDN3, SNAI2, PAX3
33melanoma9.9EDN3, EDNRB, SOX10, SNAI2, TYR, MITF

Graphical network of the top 20 diseases related to Waardenburg Syndrome Type 2:



Diseases related to waardenburg syndrome type 2

Clinical Features for Waardenburg Syndrome Type 2

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Drugs & Therapeutics for Waardenburg Syndrome Type 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Waardenburg Syndrome Type 2

Drug clinical trials:

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Genetic Tests for Waardenburg Syndrome Type 2

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20GeneTests, 22GTR
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Genetic tests related to Waardenburg Syndrome Type 2:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Ii20 SOX10
2 Waardenburg Syndrome Type 222

Anatomical Context for Waardenburg Syndrome Type 2

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32MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type 2:

32
Eye, Skin

Animal Models for Waardenburg Syndrome Type 2 or affiliated genes

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36MGI
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Publications for Waardenburg Syndrome Type 2

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Genetic Variations for Waardenburg Syndrome Type 2

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Expression for genes affiliated with Waardenburg Syndrome Type 2

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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 2

Search GEO for disease gene expression data for Waardenburg Syndrome Type 2.

Pathways for genes affiliated with Waardenburg Syndrome Type 2

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51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PAX3, MITF, SOX10
2
Hide members
9.3GSK3B, MITF, SNAI2
3
Hide members
8.8EDNRB, TYR, MITF, GSK3B
48.7GSK3B, PAX3, MITF, SNAI2, SOX10

Compounds for genes affiliated with Waardenburg Syndrome Type 2

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience
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Compounds related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1kojic acid4410.0MITF, TYR
2pd 1428934410.0EDNRB, EDN3
3bq6104410.0EDNRB, EDN3
4bq 302044 2811.0EDNRB, EDN3
5tezosentan4410.0EDNRB, EDN3
6irl 162044 2811.0EDNRB, EDN3
7fr13931744 2810.9EDNRB, EDN3
8sarafotoxin449.9EDNRB, EDN3
9bq78844 2810.9EDN3, EDNRB
10bosentan44 1110.9EDNRB, EDN3
11hmba449.8MITF, TYR
12phosphoramidon44 1110.8EDN3, EDNRB
13dopachrome449.8MITF, SOX10, TYR
14glutamate449.7TYR
15bq12344 2810.6EDNRB, EDN3, TYR
16indomethacin44 59 28 1112.3EDNRB, EDN3, TYR
17arginine448.9MITF, TYR, EDN3, EDNRB
18alanine448.7GSK3B, TYR, EDN3, EDNRB
19tyrosine448.0EDNRB, EDN3, SNAI2, TYR, MITF, PAX3

GO Terms for genes affiliated with Waardenburg Syndrome Type 2

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16Gene Ontology
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Biological processes related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:0148269.9EDNRB, EDN3
2vasoconstrictionGO:0423109.8EDN3, EDNRB
3peripheral nervous system developmentGO:0074229.8EDNRB, SOX10
4regulation of osteoclast differentiationGO:0456709.8MITF, TFE3
5enteric nervous system developmentGO:0484849.7EDNRB, SOX10
6negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.4SOX10, SNAI2, GSK3B
7melanocyte differentiationGO:0303189.4MITF, EDN3, EDNRB, SOX10
8neural crest cell migrationGO:0017559.3PAX3, EDN3, EDNRB, SOX10
9epithelial to mesenchymal transitionGO:0018379.3GSK3B, SNAI2
10negative regulation of apoptotic processGO:0430669.0SOX10, EDNRB, MITF, GSK3B
11positive regulation of transcription from RNA polymerase II promoterGO:0459448.7GSK3B, PAX3, MITF, TFE3, SOX10

Molecular functions related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.2PAX3, MITF, SNAI2, SOX10
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.9PAX3, MITF, SNAI2, SOX10

Products for genes affiliated with Waardenburg Syndrome Type 2

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Sources for Waardenburg Syndrome Type 2

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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