WS 2
MCID: WRD006
MIFTS: 42

Waardenburg Syndrome Type 2 (WS 2) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases categories

Summaries for Waardenburg Syndrome Type 2

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 ocular 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 Transcription factors in neurogenesis and Regulation of retinoblastoma protein. The compounds kojic acid and hmba have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related mouse phenotypes are limbs/digits/tail and no phenotypic analysis.

Aliases & Classifications for Waardenburg Syndrome Type 2

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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:



Aliases & Descriptions:

waardenburg syndrome type 2 44 21 23 63
waardenburg syndrome, type iia 63
ws type 2 44
ws 2 44


Related Diseases for Waardenburg Syndrome Type 2

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18GeneCards, 19GeneDecks
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Diseases in the Waardenburg Syndrome Type I family:

Waardenburg's Syndrome waardenburg syndrome type 2
Waardenburg Syndrome Type 2a Waardenburg Syndrome Type 2b
Waardenburg Syndrome Type 3 Waardenburg Syndrome Type 4
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 29)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia30.4MITF, TYR, PAX3, TFE3
2ocular albinism30.4TYR
3waardenburg syndrome type 2a10.6
4waardenburg syndrome type iid10.4
5waardenburg syndrome, type 2e, with or without neurologic involvement10.4
6waardenburg syndrome type i10.3
7albinism10.2
8tietz syndrome10.2
9waardenburg syndrome/ocular albinism, digenic10.2
10waardenburg syndrome type 410.1SOX10, MITF
11malignant peripheral nerve sheath tumor10.0MITF, SOX10
12piebaldism10.0MITF, PAX3
13neurofibroma10.0SOX10, MITF
14sensorineural hearing loss10.0SOX10, MITF
15perivascular epithelioid cell tumor10.0TFE3, MITF
16melanoma, cutaneous malignant 810.0MITF, TYR
17pigmentation disease10.0MITF, TYR
18angiomyolipoma10.0MITF, TYR
19hirschsprung's disease10.0PAX3, SOX10, MITF
20vitiligo10.0MITF, TYR
21intraocular melanoma10.0TYR, MITF
22neurilemmoma10.0MITF, TYR, SOX10
23developmental disabilities9.9SOX10, TYR
24kidney cancer9.9MITF, TYR, TFE3
25burkitt's lymphoma9.9TYR, PAX3, MITF
26sarcoma9.9PAX3, TYR, TFE3
27waardenburg's syndrome9.9TYR, SOX10, PAX3, MITF
28schizophrenia9.9GSK3B, SOX10, TYR
29melanoma9.9MITF, PAX3, TYR, SOX10, GSK3B

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



Diseases related to waardenburg syndrome type 2

Symptoms for Waardenburg Syndrome Type 2

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Drugs & Therapeutics for Waardenburg Syndrome Type 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Waardenburg Syndrome Type 2

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21GeneTests, 23GTR
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Genetic tests related to Waardenburg Syndrome Type 2:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Ii21 SOX10
2 Waardenburg Syndrome Type 223

Anatomical Context for Waardenburg Syndrome Type 2

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34MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type 2:

34
Eye, Skin

Animal Models for Waardenburg Syndrome Type 2 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 2:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9TYR, SOX10, PAX3, MITF
2MP:00030128.5GSK3B, MITF, PAX3, TYR
3MP:00011868.5MITF, PAX3, SOX10, TYR, TFE3
4MP:00053918.5MITF, PAX3, TYR, TFE3
5MP:00107718.4MITF, PAX3, SOX10, TYR, TFE3
6MP:00053828.4TFE3, SOX10, PAX3, MITF, GSK3B
7MP:00053798.3TYR, SOX10, PAX3, MITF, GSK3B
8MP:00053868.2TYR, SOX10, PAX3, MITF, GSK3B
9MP:00053908.2TFE3, TYR, PAX3, MITF, GSK3B
10MP:00053768.1GSK3B, MITF, PAX3, SOX10, TYR
11MP:00053877.9TFE3, TYR, PAX3, MITF, GSK3B
12MP:00028737.9TFE3, TYR, SOX10, PAX3, MITF, GSK3B
13MP:00053787.8TFE3, TYR, SOX10, PAX3, MITF, GSK3B
14MP:00036317.8TYR, SOX10, PAX3, MITF, GSK3B
15MP:00107687.7TFE3, TYR, SOX10, PAX3, MITF, GSK3B

Publications for Waardenburg Syndrome Type 2

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53PubMed
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Articles related to Waardenburg Syndrome Type 2:

(show all 19)
idTitleAuthorsYear
1
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. (23020089)
2013
2
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. (22848661)
2012
3
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2. (23098757)
2012
4
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
5
Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. (18424413)
2008
6
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. (17999358)
2007
7
Waardenburg syndrome type 2 in an African patient. (16394488)
2005
8
Three cases of Waardenburg syndrome type 2 in a Korean family. (15635834)
2004
9
Clinical findings in Japanese patients with Waardenburg syndrome type 2. (12586183)
2003
10
Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation. (11702731)
2001
11
Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. (10587587)
2000
12
A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2. (9584079)
1998
13
Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2. (9499424)
1998
14
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). (9158138)
1997
15
A novel mutation in the MITF gene causes Waardenburg syndrome type 2. (8880147)
1996
16
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. (8782819)
1996
17
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. (7874167)
1994
18
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. (7951321)
1994
19
Mutations of PAX3 unlikely in Waardenburg syndrome type 2. (8220430)
1993

Variations for Waardenburg Syndrome Type 2

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Waardenburg Syndrome Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1MITFNM_198159.2(MITF): c.1051T> C (p.Ser351Pro)single nucleotide variantPathogenicrs104893744GRCh37Chr 3, 70008461: 70008461
2MITFNM_198159.2(MITF): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs104893746GRCh37Chr 3, 70005611: 70005611
3MITFNM_198159.2(MITF): c.1195T> C (p.Ser399Pro)single nucleotide variantPathogenicrs104893747GRCh37Chr 3, 70014031: 70014031

Expression for genes affiliated with Waardenburg Syndrome Type 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome Type 2

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Pathways for genes affiliated with Waardenburg Syndrome Type 2

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51PathCards, 13EMD Millipore, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG
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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, SOX10
29.6MITF, PAX3
3
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
9.4GSK3B, MITF
49.2MITF, PAX3, SOX10
5
Show member pathways
8.9TYR, MITF, GSK3B
68.6GSK3B, MITF, PAX3, SOX10

Compounds for genes affiliated with Waardenburg Syndrome Type 2

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46Novoseek
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Compounds related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kojic acid469.4MITF, TYR
2hmba469.2TYR, MITF
3dopachrome469.2MITF, SOX10, TYR
4tyrosine468.5GSK3B, MITF, PAX3, TYR

GO Terms for genes affiliated with Waardenburg Syndrome Type 2

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17Gene Ontology
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Biological processes related to Waardenburg Syndrome Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:0303189.7SOX10, MITF
2regulation of osteoclast differentiationGO:0456709.7MITF, TFE3
3neural crest cell migrationGO:0017559.5PAX3, SOX10
4organ morphogenesisGO:0098879.4GSK3B, PAX3
5negative regulation of canonical Wnt signaling pathwayGO:0900909.2GSK3B, SOX10
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.5GSK3B, MITF, PAX3, TFE3

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

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:0469839.5MITF, TFE3
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.1MITF, PAX3, SOX10
3chromatin bindingGO:0036828.9MITF, PAX3, SOX10

Products for genes affiliated with Waardenburg Syndrome Type 2

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Sources for Waardenburg Syndrome Type 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet