MCID: WRD001
MIFTS: 54

Waardenburg's Syndrome malady

Summaries for Waardenburg's Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. the four known types of waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. in addition, hearing loss occurs more often in people with type 2 than in those with type 1. waardenburg syndrome type 3 (sometimes called klein-waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. waardenburg syndrome type 4 (also known as waardenburg-shah syndrome) has signs and symptoms of both waardenburg syndrome and hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. last updated: 4/18/2011

MalaCards: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome type i and waardenburg syndrome type 4. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Melanocyte Development and Pigmentation and Signaling events mediated by Stem cell factor receptor (c-Kit). The compounds pd 142893 and bq610 have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and b cells, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Genetics Home Reference:21 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

Wikipedia:64 Waardenburg syndrome (also Waardenburg­ more...

Description from OMIM:47 193510, 611584, 193500, 613266, 148820 277580, 608890, 613265 more

Aliases & Classifications for Waardenburg's Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH
See all sources

Aliases & Descriptions:

waardenburg's syndrome 8 21
waardenburg syndrome 8 64 43 21
van der hoeve halbertsma waardenburg gualdi syndrome 43 61
waardenburgs syndrome 10 45
van der hoeve halbertsona waardenburg syndrome 8
waardenburg, types i and/or ii 8
waardenburg syndrome, type i 61
mende syndrome 43


External Ids:

Disease Ontology8 DOID:9258
SNOMED-CT57 47434006
NCIt40 C85222
MeSH35 D014849

Related Diseases for Waardenburg's Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome type i31.1PAX3
2waardenburg syndrome type 430.6SOX10, EDNRB, EDN3, MITF, RET
3microphthalmia30.5TFE3, TYR, TYRP1, MITF, PAX3
4hirschsprung's disease30.4SOX10, EDNRB, EDN3, RET
5albinism30.3TYR, TYRP1
6piebaldism30.3PAX3, MITF, SNAI2
7ocular albinism30.2MITF, TYR
8neural tube defects30.0PAX3
9waardenburg syndrome type 310.6
10waardenburg syndrome type 2a10.6
11waardenburg syndrome type 210.6
12waardenburg syndrome type iva10.6
13n syndrome10.6
14micro syndrome10.4
15waardenburg syndrome type ivb10.4
16waardenburg syndrome type ivc10.4
17waardenburg syndrome type iid10.4
18waardenburg syndrome type 2b10.4
19peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.3
20waardenburg syndrome type iic10.3
21waardenburg syndrome type iie10.3
22waardenburg syndrome/ocular albinism, digenic10.3
23waardenburg syndrome/albinism, digenic10.3
24waardenburg syndrome, type 2e, with or without neurologic involvement10.3
25char syndrome10.2
26cant� syndrome10.2
27pcwh syndrome10.2
28spina bifida10.1
29heterochromia iridis10.1
30myelomeningocele10.1
31syndactyly10.0
32meningocele10.0
33duchenne muscular dystrophy10.0
34cleft palate10.0
35conn's syndrome10.0
36down syndrome10.0
37amblyopia10.0
383-m syndrome10.0
39albinism deafness syndrome10.0
40tietz syndrome10.0
41anophthalmos with limb anomalies10.0
42craniotelencephalic dysplasia10.0
43small patella syndrome10.0
44laryngomalacia10.0
45exencephaly10.0
46microphthalmia with limb anomalies10.0
47cerebro-oculo-nasal syndrome10.0
48pendred syndrome10.0GJB2
49vogt-koyanagi-harada disease10.0TYR
50pituitary adenoma10.0RET

Graphical network of the top 20 diseases related to Waardenburg's Syndrome:



Diseases related to waardenburg's syndrome

Clinical Features for Waardenburg's Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

193510,611584,193500,613266,148820,277580,608890,613265

Drugs & Therapeutics for Waardenburg's Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Waardenburg's Syndrome

Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

Search NIH Clinical Center for Waardenburg's Syndrome

Search CenterWatch for Waardenburg's Syndrome

Genetic Tests for Waardenburg's Syndrome

Anatomical Context for Waardenburg's Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Waardenburg's Syndrome:

33
Skin, Brain, B cells, Pituitary

Animal Models for Waardenburg's Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Waardenburg's Syndrome:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4PAX3, MITF, TFE3
2MP:000537110.1SOX10, EDNRB, TYR, MITF, PAX3
3MP:00053799.7SOX10, TYR, RET, PAX3
4MP:00020069.6EDNRB, FN1, TYR, TYRP1, RET, PAX3
5MP:00053779.5EDNRB, TYRP1, MITF, GJB2, PAX3
6MP:00053919.5TFE3, EDNRB, SNAI2, TYR, TYRP1, MITF
7MP:00030129.4EDNRB, TYR, MITF, RET, GJB2, PAX3
8MP:00053819.4SOX10, EDNRB, EDN3, SNAI1, SNAI2, RET
9MP:00053829.1TFE3, EDNRB, SNAI1, SNAI2, FN1, TYRP1
10MP:00053899.1SNAI2, FN1, TYR, TYRP1, MITF, RET
11MP:00107719.1EDN3, EDNRB, TFE3, SOX10, SNAI2, FN1
12MP:00053869.1SOX10, EDNRB, EDN3, SNAI2, TYR, TYRP1
13MP:00053859.1EDNRB, SNAI1, FN1, TYR, RET, GJB2
14MP:00053849.0EDNRB, SNAI1, SNAI2, FN1, TYR, RET
15MP:00053909.0TFE3, EDNRB, SNAI1, SNAI2, FN1, TYR
16MP:00053879.0FN1, SNAI2, EDNRB, TFE3, TYR, MITF
17MP:00053808.9SOX10, EDNRB, EDN3, SNAI1, SNAI2, FN1
18MP:00028738.7SOX10, TFE3, SNAI1, SNAI3, FN1, TYR
19MP:00036318.7SNAI2, SNAI1, EDN3, EDNRB, SOX10, FN1
20MP:00053788.4FN1, SNAI2, SNAI1, EDNRB, TFE3, SOX10
21MP:00107688.3SNAI2, SNAI1, EDN3, EDNRB, TFE3, SOX10

Publications for Waardenburg's Syndrome

Sources:
51PubMed
See all sources

Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. (23020089)
2013
2
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. (24351514)
2013
3
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. (21965087)
2012
4
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. (22378281)
2012
5
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. (21898658)
2011
6
A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II. (22196401)
2011
7
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. (21531202)
2011
8
Review and update of mutations causing Waardenburg syndrome. (20127975)
2010
9
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
10
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. (20664692)
2010
11
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. (18039926)
2008
12
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. (18348274)
2008
13
A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II]. (18229597)
2007
14
Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients. (17254487)
2007
15
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. (17516928)
2007
16
Waardenburg syndrome type 1. (16638435)
2006
17
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. (17375532)
2006
18
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. (16971891)
2006
19
Clinical and molecular genetic investigation of Waardenburg syndrome type 1]. (12666593)
2003
20
Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II. (12871913)
2003
21
Auditory neuropathy in siblings with Waardenburg's syndrome. (14550970)
2003
22
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? (11683776)
2001
23
Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation. (11702731)
2001
24
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
25
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type I. (10779847)
2000
26
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. (9654197)
1998
27
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. (9170159)
1997
28
A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1). (9232624)
1997
29
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. (8782819)
1996
30
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? (8845842)
1996
31
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. (8659547)
1996
32
The mutational spectrum in Waardenburg syndrome. (8589691)
1995
33
Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers. (7590754)
1995
34
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. (7825605)
1995
35
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (1347148)
1992
36
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. (2339698)
1990
37
Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. (3228147)
1988
38
The association of Waardenburg syndrome and Hirschsprung megacolon. (484594)
1979
39
Waardenburg's syndrome. (115785)
1979
40
Current status of the ABO-Waardenburg syndrome type I linkage. (752488)
1978
41
Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome. (1137038)
1975
42
Waardenburg's syndrome in two siblings, both parents and their maternal grandmother. (5085935)
1972
43
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
44
Waardenburg's syndrome. Report of a case with family studies. (5384113)
1969
45
A Chinese family with Waardenburg's syndrome. (4966266)
1968
46
Vestibular function and additional findings in Waardenburg's syndrome. (4870323)
1968
47
A pedigree of binocular heterochromia iridis associated with other anomalies (Waardenburg-Klein syndrome). (5849255)
1965
48
WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)
1964
49
Waardenburg's syndrome. (14010515)
1962
50
Waardenburg's syndrome--report of a case in a non-Dutch family. (13750394)
1961

Genetic Variations for Waardenburg's Syndrome

Expression for genes affiliated with Waardenburg's Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg's Syndrome

Search GEO for disease gene expression data for Waardenburg's Syndrome.

Pathways for genes affiliated with Waardenburg's Syndrome

Sources:
52QIAGEN, 38NCBI BioSystems Database, 4Cell Signaling Technology, 30KEGG
See all sources

Pathways related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SOX10, MITF, PAX3
2
Hide members
10.0GSK3B, MITF, SNAI2
39.9GSK3B, SNAI2, SNAI1
49.8FN1, MITF, RET, GSK3B
5
Hide members
9.7EDNRB, TYR, TYRP1, MITF, GSK3B
69.5GSK3B, PAX3, MITF, SNAI2, SNAI1, SOX10

Compounds for genes affiliated with Waardenburg's Syndrome

Sources:
45Novoseek, 29IUPHAR, 2BitterDB, 24HMDB, 11DrugBank, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1pd 1428934510.6EDNRB, EDN3
2bq6104510.6EDNRB, EDN3
3bq 302045 2911.6EDNRB, EDN3
4dhica4510.5TYR, TYRP1
5tezosentan4510.5EDNRB, EDN3
6irl 162045 2911.5EDNRB, EDN3
7fr13931745 2911.5EDNRB, EDN3
8sarafotoxin4510.5EDNRB, EDN3
9arbutin2 4511.5TYR, TYRP1
10bq78845 2911.5EDNRB, EDN3
11bq12345 2911.5EDNRB, EDN3, TYR
12dopaquinone45 2411.5TYR, TYRP1
13kojic acid4510.5MITF, TYRP1, TYR
14bosentan45 1111.4FN1, EDN3, EDNRB
15eumelanin4510.4TYR, TYRP1
16hmba4510.4TYR, TYRP1, MITF
17phenylphosphate45 1111.4TYR, ALPP
18dopachrome4510.3MITF, TYRP1, TYR, SOX10
19levodopa45 1111.2TYRP1, TYR, EDN3
20ibmx45 29 6012.2ALPP, TYRP1, TYR, FN1
21indomethacin45 60 29 1113.1EDNRB, EDN3, FN1, TYR
22agar4510.0FN1, TYR, TYRP1, RET
23methionine4510.0EDN3, FN1, RET, GJB2
24cyclic amp45 2410.9GSK3B, RET, MITF, TYRP1, EDN3
25potassium45 11 2411.9GSK3B, GJB2, EDN3, EDNRB
26aspartate459.9EDNRB, EDN3, TYR, RET, GJB2, ALPP
27paraffin459.9FN1, TYR, MITF, RET, GJB2, ALPP
28h2o2459.8EDNRB, FN1, TYR, TYRP1, ALPP
29vegf459.8EDNRB, EDN3, FN1, TYR, RET, ALPP
30arginine459.7EDNRB, EDN3, FN1, TYR, MITF, RET
31oligonucleotide459.7EDN3, TYRP1, MITF, RET, PAX3
32alanine459.7EDNRB, EDN3, FN1, TYR, RET, ALPP
33testosterone45 60 11 2412.7GSK3B, ALPP, RET, TYR, EDN3
34retinoic acid45 2410.6ALPP, KIR2DS4, GJB2, RET, TYR, FN1
35serine459.5EDNRB, EDN3, FN1, TYR, TYRP1, RET
36cysteine459.5EDNRB, FN1, TYR, TYRP1, RET, KIR2DS4
37dexamethasone45 50 29 1112.4EDNRB, EDN3, FN1, TYR, ALPP
38calcium45 50 11 2412.0EDNRB, EDN3, TYRP1, MITF, RET, GJB2
39tyrosine458.9TYR, FN1, SNAI2, EDN3, EDNRB, TYRP1

GO Terms for genes affiliated with Waardenburg's Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:03316210.2TYRP1, TYR
2endoplasmic reticulum-Golgi intermediate compartmentGO:0057939.7SEC23IP, GJB2, FN1

Biological processes related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:01482610.5EDNRB, EDN3
2posterior midgut developmentGO:00749710.4EDNRB, RET
3regulation of osteoclast differentiationGO:04567010.4TFE3, MITF
4negative regulation of vitamin D biosynthetic processGO:01095710.3SNAI1, SNAI2
5cartilage morphogenesisGO:06053610.3SNAI2, SNAI1
6vasoconstrictionGO:04231010.3EDN3, EDNRB
7regulation of tight junction assemblyGO:200081010.3SNAI1, SNAI2
8enteric nervous system developmentGO:04848410.3RET, EDNRB, SOX10
9negative regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351810.3SNAI2, SNAI1
10negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageGO:190223010.2SNAI1, SNAI2
11negative regulation of canonical Wnt receptor signaling pathwayGO:09009010.2GSK3B, SNAI2, SOX10
12epithelial to mesenchymal transitionGO:00183710.2GSK3B, SNAI2, SNAI1
13response to painGO:04826510.2RET, EDNRB
14melanocyte differentiationGO:03031810.1MITF, TYRP1, EDN3, EDNRB, SOX10
15neural crest cell migrationGO:00175510.0SOX10, EDNRB, EDN3, RET, PAX3
16positive regulation of cell migrationGO:0303359.9SNAI1, SNAI2, RET
17cell migrationGO:0164779.8SNAI1, FN1, GSK3B
18sensory perception of soundGO:0076059.8SNAI2, GJB2, PAX3
19positive regulation of transcription from RNA polymerase II promoterGO:0459449.7GSK3B, PAX3, MITF, TFE3, SOX10

Molecular functions related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.9PAX3, MITF, SNAI2, SOX10
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8PAX3, MITF, SNAI2, SOX10
3copper ion bindingGO:0055079.6SNAI3, TYR, TYRP1

Products for genes affiliated with Waardenburg's Syndrome

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Sources for Waardenburg's Syndrome

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