MCID: WRD001
MIFTS: 55

Waardenburg's Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases categories
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Summaries for Waardenburg's Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 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 4 and microphthalmia. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Regulation of retinoblastoma protein and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. The compounds dopachrome and bq610 have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

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:65 Waardenburg syndrome (also Waardenburg more...

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

Aliases & Classifications for Waardenburg's Syndrome

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8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 43NIH Rare Diseases, 62UMLS, 10DISEASES, 45Novoseek, 47OMIM, 58SNOMED-CT, 35MeSH, 40NCIt
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Classifications:



Aliases & Descriptions:

waardenburg's syndrome 8 21
waardenburg syndrome 8 65 43 21
van der hoeve halbertsma waardenburg gualdi syndrome 43 62
waardenburgs syndrome 10 45
van der hoeve halbertsona waardenburg syndrome 8
waardenburg, types i and/or ii 8
waardenburg syndrome, type i 62
mende syndrome 43


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Disease Ontology8 DOID:9258
SNOMED-CT58 47434006
MeSH35 D014849
NCIt40 C85222

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome type 430.7EDN3, EDNRB, SOX10, MITF
2microphthalmia30.7PAX3, MITF
3neural tube defects30.4PAX3
4piebaldism30.4SNAI2, MITF, PAX3
5waardenburg syndrome type i10.9
6waardenburg syndrome type 210.8
7waardenburg syndrome type 310.7
8waardenburg syndrome type 2a10.7
9waardenburg syndrome type iva10.6
10waardenburg syndrome type ivb10.5
11waardenburg syndrome type ivc10.5
12waardenburg syndrome type iid10.5
13waardenburg syndrome type 2b10.4
14peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.4
15waardenburg syndrome type iic10.4
16waardenburg syndrome type iie10.4
17waardenburg syndrome, type 2e, with or without neurologic involvement10.4
18mend syndrome10.3
19albinism10.3
20waardenburg syndrome/ocular albinism, digenic10.3
21waardenburg syndrome/albinism, digenic10.3
22ocular albinism10.2
23megacolon10.2
24spina bifida10.2
25anophthalmos with limb anomalies10.2
26heterochromia iridis10.2
27myelomeningocele10.2
28pcwh syndrome10.2
29cleft palate10.0PAX3, SNAI2
30malignant peripheral nerve sheath tumor10.0MITF, SOX10
31neurofibroma10.0SOX10, MITF
32sensorineural hearing loss10.0SOX10, MITF
33neurilemmoma10.0SOX10, MITF
34meningocele10.0
35cleft lip10.0
36duchenne muscular dystrophy10.0
37syndactyly10.0
38down syndrome10.0
39amblyopia10.0
40exotropia10.0
41muscular dystrophy10.0
42albinism deafness syndrome10.0
43chromosome 13q deletion10.0
44craniotelencephalic dysplasia10.0
45exencephaly10.0
46laryngomalacia10.0
47small patella syndrome10.0
48tietz syndrome10.0
49cerebro-oculo-nasal syndrome10.0
50central hypoventilation syndrome, congenital, with or without hirschsprung disease10.0EDNRB, EDN3

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



Diseases related to waardenburg's syndrome

Symptoms for Waardenburg's Syndrome

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47OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Waardenburg's Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

Search NIH Clinical Center for Waardenburg's Syndrome

Genetic Tests for Waardenburg's Syndrome

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Anatomical Context for Waardenburg's Syndrome

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

33
Eye, Skin, Bone, Pituitary

Animal Models for Waardenburg's Syndrome or affiliated genes

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37MGI
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Publications for Waardenburg's Syndrome

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52PubMed
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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
2
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
3
Waardenburg's syndrome a rare entity. (23119554)
1999
4
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
5
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
6
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
7
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
8
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
9
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
10
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
11
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
12
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
13
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)
1988
14
The eyes have it: Waardenburg's syndrome. (3468364)
1986
15
Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)
1986
16
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)
1986
17
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
18
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
19
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)
1984
20
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
21
Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)
1981
22
Waardenburg's syndrome. (7203595)
1980
23
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
24
Waardenburg's syndrome. (7401140)
1980
25
A possible animal model for Waardenburg's syndrome. (468455)
1979
26
Waardenburg's syndrome. (417897)
1978
27
Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)
1977
28
Waardenburg's syndrome in a girl. (1150316)
1975
29
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)
1974
30
Waardenburg's syndrome. Identification of patients. (4726720)
1973
31
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
32
Waardenburg's syndrome in an African child. (5444872)
1970
33
Waardenburg's syndrome. (5801408)
1969
34
Hypertelorism and Waardenburg's syndrome. (5801819)
1969
35
Medial canthoplasty in a child with Waardenburg's syndrome. Case report. (5791340)
1969
36
A Chinese family with Waardenburg's syndrome. (4966266)
1968
37
Vestibular function and additional findings in Waardenburg's syndrome. (4870323)
1968
38
Waardenburg's syndrome. (5658623)
1968
39
Waardenburg's Syndrome in an Indian family. (5589484)
1967
40
Waardenburg's syndrome. Report of a family. (6060805)
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 in father and daughter. (13984948)
1962
47
Waardenburg's syndrome. (13947542)
1962
48
WAARDENBURG'S SYNDROME. (18170706)
1961
49
Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. (13722846)
1960
50
An English family with Waardenburg's syndrome. (13650669)
1959

Variations for Waardenburg's Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Waardenburg's Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
2PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
3PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
4PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851

Expression for genes affiliated with Waardenburg's Syndrome

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 53QIAGEN
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Pathways related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6MITF, PAX3
29.5SNAI2, MITF
3
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.5SNAI2, MITF
49.4SOX10, PAX3
5
Show member pathways
9.2MITF, EDNRB
69.1EDN3, EDNRB
79.0SOX10, PAX3, MITF
88.5SNAI2, MITF, PAX3, SOX10

Compounds for genes affiliated with Waardenburg's Syndrome

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45Novoseek, 29IUPHAR, 11DrugBank
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Compounds related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1dopachrome459.6SOX10, MITF
2bq610459.5EDN3, EDNRB
3pd 142893459.4EDNRB, EDN3
4bq 302045 2910.4EDNRB, EDN3
5sarafotoxin459.4EDNRB, EDN3
6tezosentan459.4EDN3, EDNRB
7fr13931745 2910.4EDN3, EDNRB
8irl 162045 2910.4EDN3, EDNRB
9bq78845 2910.4EDNRB, EDN3
10bq12345 2910.3EDNRB, EDN3
11bosentan45 1110.3EDNRB, EDN3
12phosphoramidon45 1110.2EDN3, EDNRB
13oligonucleotide459.2MITF, EDN3, PAX3
14prostacyclin459.1EDN3, EDNRB
15cgmp45 299.8EDN3, EDNRB
16arginine458.7MITF, EDN3, EDNRB
17glutamate458.6MITF, EDN3, EDNRB
18tyrosine457.9MITF, PAX3, EDN3, EDNRB, SNAI2

GO Terms for genes affiliated with Waardenburg's Syndrome

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16Gene Ontology
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Biological processes related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:0148269.3EDN3, EDNRB
2vasoconstrictionGO:0423109.3EDN3, EDNRB
3sensory perception of soundGO:0076059.2PAX3, SNAI2
4negative regulation of canonical Wnt signaling pathwayGO:0900909.2SNAI2, SOX10
5enteric nervous system developmentGO:0484849.2SOX10, EDNRB
6peripheral nervous system developmentGO:0074229.1EDNRB, SOX10
7cell surface receptor signaling pathwayGO:0071669.1EDNRB, EDN3
8positive regulation of cell proliferationGO:0082848.8PAX3, EDNRB, EDN3
9negative regulation of transcription from RNA polymerase II promoterGO:0001228.7SNAI2, EDNRB, PAX3
10neural crest cell migrationGO:0017558.3SOX10, EDN3, EDNRB, PAX3
11melanocyte differentiationGO:0303188.3MITF, EDN3, EDNRB, SOX10

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036828.5SNAI2, MITF, PAX3, SOX10
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.2SNAI2, MITF, PAX3, SOX10

Products for genes affiliated with Waardenburg's Syndrome

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  • Proteins
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Sources for Waardenburg's Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet