MCID: WRD001
MIFTS: 53

Waardenburg's Syndrome malady

Summaries for Waardenburg's Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 eye, skin and bone, 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:63 Waardenburg syndrome (also Waardenburg­ more...

Description from OMIM:46 193510, 611584, 193500, 613266, 148820 277580, 608890, 613265 more

Aliases & Classifications for Waardenburg's Syndrome

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

waardenburg's syndrome 8 21
waardenburg syndrome 8 63 42 21
van der hoeve halbertsma waardenburg gualdi syndrome 42 60
waardenburgs syndrome 10 44
van der hoeve halbertsona waardenburg syndrome 8
waardenburg, types i and/or ii 8
waardenburg syndrome, type i 60
mende syndrome 42


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Disease Ontology8 DOID:9258
SNOMED-CT56 47434006
NCIt39 C85222
MeSH34 D014849

Related Diseases for Waardenburg's Syndrome

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome type i30.8PAX3
2waardenburg syndrome type 430.6SOX10, EDNRB, EDN3, MITF, RET
3microphthalmia30.5TFE3, TYR, TYRP1, MITF, PAX3
4albinism30.3TYR, TYRP1
5piebaldism30.3PAX3, MITF, SNAI2
6ocular albinism30.2MITF, TYR
7waardenburg syndrome type 310.6
8waardenburg syndrome type 2a10.6
9waardenburg syndrome type iva10.6
10waardenburg syndrome type 210.5
11waardenburg syndrome type ivb10.4
12waardenburg syndrome type ivc10.4
13waardenburg syndrome type iid10.4
14waardenburg syndrome type 2b10.4
15peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.3
16waardenburg syndrome type iic10.3
17waardenburg syndrome type iie10.3
18waardenburg syndrome, type 2e, with or without neurologic involvement10.3
19waardenburg syndrome/ocular albinism, digenic10.2
20waardenburg syndrome/albinism, digenic10.2
21megacolon10.1
22spina bifida10.1
23anophthalmos with limb anomalies10.1
24pcwh syndrome10.1
25syndactyly10.0
26meningocele10.0
27cleft lip10.0
28duchenne muscular dystrophy10.0
29cleft palate10.0
30down syndrome10.0
31amblyopia10.0
32exotropia10.0
33muscular dystrophy10.0
34heterochromia iridis10.0
35pendred syndrome10.0GJB2
36vogt-koyanagi-harada disease10.0TYR
37pituitary adenoma10.0RET
38autosomal dominant disease10.0RET
39lung cancer10.0FN1
40angiomyolipoma10.0MITF, TYR
41papilloma10.0GJB2
42pigmentation disease10.0TYR, MITF
43proliferative vitreoretinopathy10.0FN1
44neural tube defects10.0PAX3
45neurofibroma10.0SOX10, MITF
46skin disease10.0FN1, ALPP
47nonsyndromic deafness10.0GJB2
48intestinal obstruction10.0RET, EDN3, EDNRB
49adenoma10.0RET, EDN3, EDNRB
50osteosarcoma10.0EDNRB, PAX3, ALPP

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



Diseases related to waardenburg's syndrome

Clinical Features for Waardenburg's Syndrome

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46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Waardenburg's Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Waardenburg's Syndrome

Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

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Genetic Tests for Waardenburg's Syndrome

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Anatomical Context for Waardenburg's Syndrome

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32MalaCards
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MalaCards organs/tissues related to Waardenburg's Syndrome:

32
Eye, Skin, Bone, Pituitary

Animal Models for Waardenburg's Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

36 (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

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50PubMed
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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/blind in Kaduna-Nigeria. (21970256)
2011
2
Auditory neuropathy in siblings with Waardenburg's syndrome. (14550970)
2003
3
Temporal bone imaging findings in Waardenburg's syndrome. (11335009)
2001
4
Otopathology in a case of type I Waardenburg's syndrome. (11558766)
2001
5
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
6
Waardenburg's syndrome. (20952962)
1995
7
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
8
Waardenburg's syndrome. (7941767)
1993
9
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
10
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
11
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (1347148)
1992
12
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
13
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. (2609099)
1989
14
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
15
Waardenburg's syndrome associated with total aganglionosis. (6651333)
1983
16
Waardenburg's syndrome: variations in expressivity. (6793979)
1981
17
Waardenburg's syndrome. (7203595)
1980
18
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
19
Waardenburg's syndrome. (6970403)
1980
20
Waardenburg's syndrome. (519746)
1979
21
Waardenburg's syndrome. (115785)
1979
22
Waardenburg's syndrome in Kenyan Africans. (675827)
1978
23
Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)
1977
24
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)
1974
25
Waardenburg's syndrome. Identification of patients. (4726720)
1973
26
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
27
Waardenburg's syndrome and familial periodic paralysis. (5580938)
1971
28
Waardenburg's syndrome in an African child. (5444872)
1970
29
A coloured family showing features of Waardenburg's syndrome. (5443890)
1970
30
Hypertelorism and Waardenburg's syndrome. (5801819)
1969
31
Waardenburg's syndrome with bilateral cleft lip. (5765156)
1969
32
Waardenburg's syndrome. Report of a case with family studies. (5384113)
1969
33
Clinical, dermatoglyphic and chromosomal study of Waardenburg's syndrome. (5349887)
1969
34
Waardenburg's syndrome. (5350430)
1969
35
A Chinese family with Waardenburg's syndrome. (4966266)
1968
36
Vestibular function and additional findings in Waardenburg's syndrome. (4870323)
1968
37
Waardenburg's syndrome. (5658623)
1968
38
Waardenburg's Syndrome in an Indian family. (5589484)
1967
39
Waardenburg's syndrome during the first year of life. (6059431)
1967
40
Tomography of the inner ear in a case of Waardenburg's syndrome. (6073377)
1967
41
Waardenburg's syndrome with fundus and other anomalies. (4958935)
1966
42
WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE. (14269024)
1965
43
WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED. (14339408)
1965
44
WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY. (14299408)
1965
45
WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)
1964
46
WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION. (14166458)
1964
47
Waardenburg's syndrome. (14017880)
1963
48
Waardenburg's syndrome. (14010515)
1962
49
WAARDENBURG'S SYNDROME. (18170706)
1961
50
An English family with Waardenburg's syndrome. (13650669)
1959

Genetic Variations for Waardenburg's Syndrome

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Expression for genes affiliated with Waardenburg's Syndrome

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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

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51QIAGEN, 37NCBI BioSystems Database, 4Cell Signaling Technology, 29KEGG
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Pathways related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Waardenburg's Syndrome

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44Novoseek, 28IUPHAR, 2BitterDB, 24HMDB, 11DrugBank, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1pd 1428934410.6EDNRB, EDN3
2bq6104410.6EDNRB, EDN3
3bq 302044 2811.6EDNRB, EDN3
4dhica4410.5TYR, TYRP1
5tezosentan4410.5EDNRB, EDN3
6irl 162044 2811.5EDNRB, EDN3
7fr13931744 2811.5EDNRB, EDN3
8sarafotoxin4410.5EDNRB, EDN3
9arbutin2 4411.5TYR, TYRP1
10bq78844 2811.5EDNRB, EDN3
11bq12344 2811.5EDNRB, EDN3, TYR
12dopaquinone44 2411.5TYR, TYRP1
13kojic acid4410.5MITF, TYRP1, TYR
14bosentan44 1111.4FN1, EDN3, EDNRB
15eumelanin4410.4TYR, TYRP1
16hmba4410.4TYR, TYRP1, MITF
17phenylphosphate44 1111.4TYR, ALPP
18dopachrome4410.3MITF, TYRP1, TYR, SOX10
19levodopa44 1111.2TYRP1, TYR, EDN3
20ibmx44 28 5912.2ALPP, TYRP1, TYR, FN1
21indomethacin44 59 28 1113.1EDNRB, EDN3, FN1, TYR
22agar4410.0FN1, TYR, TYRP1, RET
23methionine4410.0EDN3, FN1, RET, GJB2
24cyclic amp44 2410.9GSK3B, RET, MITF, TYRP1, EDN3
25potassium44 11 2411.9GSK3B, GJB2, EDN3, EDNRB
26aspartate449.9EDNRB, EDN3, TYR, RET, GJB2, ALPP
27paraffin449.9FN1, TYR, MITF, RET, GJB2, ALPP
28h2o2449.8EDNRB, FN1, TYR, TYRP1, ALPP
29vegf449.8EDNRB, EDN3, FN1, TYR, RET, ALPP
30arginine449.7EDNRB, EDN3, FN1, TYR, MITF, RET
31oligonucleotide449.7EDN3, TYRP1, MITF, RET, PAX3
32alanine449.7EDNRB, EDN3, FN1, TYR, RET, ALPP
33testosterone44 59 11 2412.7GSK3B, ALPP, RET, TYR, EDN3
34retinoic acid44 2410.6ALPP, KIR2DS4, GJB2, RET, TYR, FN1
35serine449.5EDNRB, EDN3, FN1, TYR, TYRP1, RET
36cysteine449.5EDNRB, FN1, TYR, TYRP1, RET, KIR2DS4
37dexamethasone44 49 28 1112.4EDNRB, EDN3, FN1, TYR, ALPP
38calcium44 49 11 2412.0EDNRB, EDN3, TYRP1, MITF, RET, GJB2
39tyrosine448.9TYR, FN1, SNAI2, EDN3, EDNRB, TYRP1

GO Terms for genes affiliated with Waardenburg's Syndrome

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16Gene Ontology
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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:0036829.9SOX10, SNAI2, MITF, PAX3
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8MITF, SOX10, PAX3, SNAI2
3copper ion bindingGO:0055079.6TYR, TYRP1, SNAI3

Products for genes affiliated with Waardenburg's Syndrome

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Sources for Waardenburg's Syndrome

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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