WS 2
MCID: WRD006
MIFTS: 34

Waardenburg Syndrome Type 2 (WS 2) malady

Summaries for Waardenburg Syndrome Type 2

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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 waardenburg's syndrome and microphthalmia. 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 skin, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

Aliases & Classifications for Waardenburg Syndrome Type 2

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

waardenburg syndrome type 2 43 20 22 61
waardenburg syndrome, type iia 61
ws type 2 43
ws 2 43


Related Diseases for Waardenburg Syndrome Type 2

Sources:
17GeneCards, 18GeneDecks
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Diseases in the waardenburg syndrome type 2a family:

waardenburg's syndrome waardenburg syndrome type i
waardenburg syndrome type 4 waardenburg syndrome type 3
waardenburg syndrome type 2 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
waardenburg syndrome, type 2e, with or without neurologic involvement

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg's syndrome31.2PAX3, MITF, TYR, SNAI2, EDN3, EDNRB
2microphthalmia30.4TFE3, TYR, MITF, PAX3
3albinism30.2TYR
4ocular albinism30.2TYR
5waardenburg syndrome type 2a10.5
6waardenburg syndrome type i10.4
7micro syndrome10.3
8waardenburg syndrome type iid10.3
9waardenburg syndrome/ocular albinism, digenic10.3
10waardenburg syndrome, type 2e, with or without neurologic involvement10.3
11n syndrome10.2
123-m syndrome10.2
13char syndrome10.2
14tietz syndrome10.2
15waardenburg syndrome type 310.2
16waardenburg syndrome/albinism, digenic10.2
17kidney cancer10.0TFE3
18neurofibroma10.0SOX10, MITF
19malignant peripheral nerve sheath tumor10.0SOX10, MITF
20oculocutaneous albinism10.0TYR
21sensorineural hearing loss10.0SOX10, MITF
22intestinal obstruction10.0EDN3, EDNRB
23glioblastoma multiforme10.0TYR
24central hypoventilation syndrome, congenital, with or without hirschsprung disease10.0EDNRB, EDN3
25perivascular epithelioid cell tumor10.0MITF, TFE3
26adenoma10.0EDNRB, EDN3
27piebaldism10.0PAX3, MITF, SNAI2
28pigmentation disease10.0MITF, TYR
29angiomyolipoma10.0MITF, TYR
30hirschsprung's disease10.0EDN3, EDNRB, SOX10
31retinoblastoma10.0TYR, MITF
32neurilemmoma10.0MITF, TYR, SOX10
33waardenburg syndrome type 410.0SOX10, EDNRB, EDN3, MITF
34osteosarcoma10.0PAX3, EDNRB
35intraocular melanoma10.0MITF, TYR
36developmental disabilities10.0TYR, EDNRB, SOX10
37sarcoma10.0PAX3, TYR, TFE3
38leukemia10.0PAX3, TYR, TFE3
39breast cancer10.0TYR, SNAI2, EDN3, EDNRB
40melanoma9.9SOX10, EDNRB, EDN3, 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

Drugs & Therapeutics for Waardenburg Syndrome Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Waardenburg Syndrome Type 2

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type 2:

33
Skin

Animal Models for Waardenburg Syndrome Type 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Waardenburg Syndrome Type 2

Sources:
51PubMed
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Articles related to Waardenburg Syndrome Type 2:

idTitleAuthorsYear
1
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2. (22842075)
2012
2
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. (9482647)
1998
3
Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3. (8322830)
1993
4
Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. (1303207)
1992
5
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. (2339698)
1990

Genetic Variations for Waardenburg Syndrome Type 2

Expression for genes affiliated with Waardenburg Syndrome Type 2

Sources:
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 30KEGG
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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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience
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Compounds related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1kojic acid4510.0MITF, TYR
2pd 1428934510.0EDNRB, EDN3
3bq6104510.0EDNRB, EDN3
4bq 302045 2911.0EDNRB, EDN3
5tezosentan4510.0EDNRB, EDN3
6irl 162045 2911.0EDNRB, EDN3
7fr13931745 2910.9EDNRB, EDN3
8sarafotoxin459.9EDNRB, EDN3
9bq78845 2910.9EDN3, EDNRB
10bosentan45 1110.9EDNRB, EDN3
11hmba459.8MITF, TYR
12phosphoramidon45 1110.8EDN3, EDNRB
13dopachrome459.8MITF, SOX10, TYR
14glutamate459.7TYR
15bq12345 2910.6EDNRB, EDN3, TYR
16indomethacin45 60 29 1112.3EDNRB, EDN3, TYR
17arginine458.9MITF, TYR, EDN3, EDNRB
18alanine458.7GSK3B, TYR, EDN3, EDNRB
19tyrosine458.0EDNRB, EDN3, SNAI2, TYR, MITF, PAX3

GO Terms for genes affiliated with Waardenburg Syndrome Type 2

Sources:
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

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