MCID: WRD001
MIFTS: 53

Waardenburg's Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Waardenburg's Syndrome

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Sources:
65UMLS, 10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 68Wikipedia, 45NIH Rare Diseases, 51Orphanet, 36MeSH, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 10 23 12
Waardenburg Syndrome 10 68 45 23 51 36 65
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 45 65
Van Der Hoeve Halbertsona Waardenburg Syndrome 10
Waardenburg, Types I and/or Ii 10
Waardenburg Syndrome, Type 4a 65
 
Waardenburg-Klein Syndrome 10
Waardenburg Shah Syndrome 10
Waardenburgs Syndrome 47
Klein's Syndrome 65
Mende Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
waardenburg syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:9258
MeSH36 D014849
Orphanet51 3440
SNOMED-CT59 47434006
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 D014849
UMLS via Orphanet66 C0043008
UMLS65 C0079661, C1847800, C3266898 C1848519, C2931912, more

Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:45 Waardenburg syndrome (ws) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. signs and symptoms can vary both within and between families. common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. various other features may also be present. ws is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. mutations in at least 6 different genes are known to cause ws, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. treatment depends on the specific symptoms present. last updated: 2/10/2016

MalaCards based summary: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome, type 1 and hirschsprung disease 1, and has symptoms including conductive hearing impairment, prominent nasal bridge and synophrys. An important gene associated with Waardenburg's Syndrome is PAX3 (Paired Box 3), and among its related pathways are Regulation of retinoblastoma protein and Endothelins. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are hearing/vestibular/ear and no phenotypic analysis.

Disease Ontology:10 An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.

Genetics Home Reference:23 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:68 Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome) is a rare genetic... more...

Related Diseases for Waardenburg's Syndrome

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Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4c Waardenburg Syndrome Type 4

Diseases related to Waardenburg's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 130.7MITF, PAX3, SOX10
2hirschsprung disease 130.0EDN3, EDNRB, RET
3mend syndrome12.3
4pcwh syndrome11.7
5waardenburg syndrome, type 4a11.5
6waardenburg syndrome type 411.5
7waardenburg syndrome, type 4b11.1
8waardenburg syndrome, type 4c11.1
9waardenburg syndrome/ocular albinism, digenic10.4MITF, TYR
10idiopathic macular telangiectasia type 110.4MITF, TYR
11wagner syndrome10.4EDNRB, SOX10
12merrf syndrome10.4PAX3, SOX10
13hereditary renal cell carcinoma10.4MITF, PAX3
14albinism, oculocutaneous, type ib10.4MITF, TYR
15pyloric stenosis, infantile hypertrophic, 310.4MITF, TYR
16melanoma, cutaneous malignant 810.4MITF, TYR
17malignant breast melanoma10.4MITF, TYR
18corneal disease10.3MITF, TYR
19waardenburg syndrome, type 310.2
20waardenburg syndrome, type 2a10.2
21primary cutaneous amyloidosis10.1MITF, TYR
22heterochromia iridis10.1
23microphthalmia10.1
24skin benign neoplasm10.1MITF, SOX10, TYR
25connective tissue benign neoplasm10.1MITF, TYR
26central hypoventilation syndrome, congenital10.1EDNRB, RET
27corneal intraepithelial dyskeratosis and ectodermal dysplasia10.1MITF, TYR
28total anomalous pulmonary venous return10.1MITF, PAX3, SNAI2
29ocular albinism with sensorineural deafness10.1MITF, SNAI2, SOX10
30glucose metabolism disease10.0GJB2, MITF
31spina bifida occulta10.0EDNRB, RET
32oliver-mcfarlane syndrome10.0FN1, RET
33labyrinthine unilateral reactive loss9.9EDNRB, RET
34lynch syndrome9.9EDN3, RET, SOX10
35brachyolmia9.9FN1, MITF, TYR
36anterior spinal artery syndrome9.8MITF, PAX3, SOX10, TYR
37shprintzen-goldberg syndrome9.8EDN3, EDNRB, RET
38afferent loop syndrome9.8EDN3, EDNRB, RET
39liver leiomyosarcoma9.7EDNRB, RET
40focal epithelial hyperplasia9.5EDN3, EDNRB, RET, SOX10
41anal spasm9.5EDN3, EDNRB, RET, SOX10
42autosomal recessive disease9.5GJB2, PAX3, RET
43familial abdominal aortic aneurysm9.4FN1, RET
44diabetes mellitus, noninsulin-dependent, 59.2EDN3, EDNRB, MITF, RET, SOX10
45conjunctival intraepithelial neoplasm9.0EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
46chronic infections, due to mbl deficiency8.9EDN3, EDNRB, MITF, PAX3, RET, SOX10
47nasopharynx carcinoma6.7EDN3, EDNRB, FN1, GJB2, MITF, PAX3

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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Symptoms:

 51 (show all 30)
  • facial dysmorphism
  • anomalies of eyes and vision
  • heterochromia/mixed colouring of iris
  • synophris/synophrys
  • high nasal bridge
  • hearing loss/hypoacusia/deafness
  • conductive deafness/hearing loss
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • premature greying of hair
  • decreased hair pigmentation/hypopigmentation of hair
  • autosomal dominant inheritance
  • face/facial anomalies
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • telecanthus/canthal dystopy
  • defect/anomaly of lacrimal system
  • broad nasal root
  • thin/hypoplastic ala nasi
  • anomalies of mouth, lip and philtrum
  • white forelock/piebaldism
  • ptosis
  • cleft lip and palate
  • intestinal/colonic anomaly
  • colonic atresia/stenosis/absence/agenesis/hypoplasia/microcolon
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intestinal obstruction/ileus
  • uterine/uterus/fallopian tubes anomalies
  • vagina anomalies/atresia/hydrometrocolpos/hymen imperforation
  • myelomeningocele

HPO human phenotypes related to Waardenburg's Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 conductive hearing impairment hallmark (90%) HP:0000405
2 prominent nasal bridge hallmark (90%) HP:0000426
3 synophrys hallmark (90%) HP:0000664
4 hypopigmented skin patches hallmark (90%) HP:0001053
5 heterochromia iridis hallmark (90%) HP:0001100
6 abnormal facial shape hallmark (90%) HP:0001999
7 premature graying of hair hallmark (90%) HP:0002216
8 underdeveloped nasal alae typical (50%) HP:0000430
9 wide nasal bridge typical (50%) HP:0000431
10 telecanthus typical (50%) HP:0000506
11 lacrimation abnormality typical (50%) HP:0000632
12 white forelock typical (50%) HP:0002211
13 abnormality of the vagina occasional (7.5%) HP:0000142
14 oral cleft occasional (7.5%) HP:0000202
15 ptosis occasional (7.5%) HP:0000508
16 aganglionic megacolon occasional (7.5%) HP:0002251
17 myelomeningocele occasional (7.5%) HP:0002475
18 intestinal obstruction occasional (7.5%) HP:0005214
19 aplasia/hypoplasia of the colon occasional (7.5%) HP:0100811

UMLS symptoms related to Waardenburg's Syndrome:


achromia of skin

Drugs & Therapeutics for Waardenburg's Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic KitRecruitingNCT02418936

Search NIH Clinical Center for Waardenburg's Syndrome


Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg's Syndrome

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Anatomical Context for Waardenburg's Syndrome

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MalaCards organs/tissues related to Waardenburg's Syndrome:

33
Skin, Eye, Colon, Uterus, B cells, Liver, Endothelial

Animal Models for Waardenburg's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

38 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5EDNRB, GJB2, MITF, PAX3
2MP:00030128.3GJB2, MITF, PAX3, RET, TYR
3MP:00020068.2EDNRB, FN1, PAX3, RET, SOX10, TYR
4MP:00053818.2EDN3, EDNRB, PAX3, RET, SNAI2, SOX10
5MP:00011868.2EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
6MP:00053918.0EDNRB, GJB2, MITF, PAX3, SNAI2, TYR
7MP:00053797.9EDNRB, MITF, PAX3, RET, SNAI2, SOX10
8MP:00053827.8EDNRB, FN1, GJB2, MITF, PAX3, SNAI2
9MP:00053897.6FN1, GJB2, MITF, RET, SNAI2, TYR
10MP:00028737.5FN1, GJB2, MITF, PAX3, RET, SOX10
11MP:00053867.5EDN3, EDNRB, MITF, PAX3, RET, SNAI2
12MP:00053907.1EDNRB, FN1, GJB2, MITF, PAX3, SNAI2
13MP:00053717.1EDNRB, FN1, GJB2, MITF, PAX3, RET
14MP:00053846.9EDNRB, FN1, GJB2, MITF, PAX3, RET
15MP:00107716.8EDN3, EDNRB, FN1, GJB2, MITF, PAX3
16MP:00053856.8EDNRB, FN1, GJB2, PAX3, RET, SNAI2
17MP:00053766.3EDNRB, FN1, GJB2, MITF, PAX3, RET
18MP:00053806.3EDN3, EDNRB, FN1, GJB2, MITF, PAX3
19MP:00053876.2EDNRB, FN1, GJB2, MITF, PAX3, RET
20MP:00053786.2EDNRB, FN1, GJB2, MITF, PAX3, RET
21MP:00036316.1EDN3, EDNRB, FN1, GJB2, MITF, PAX3
22MP:00107685.9EDN3, EDNRB, FN1, GJB2, MITF, PAX3

Publications for Waardenburg's Syndrome

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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
50 Years Ago in The Journal of Pediatrics: Waardenburg's Syndrome: The Risk of Recurrence of Congenital Deafness in a Kindred. (26319917)
2015
2
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. (25933462)
2015
3
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. (25565054)
2014
4
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
5
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
6
Waardenburg's syndrome a rare entity. (23119554)
1999
7
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
8
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
9
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
10
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
11
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
12
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
13
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
14
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
15
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
16
The eyes have it: Waardenburg's syndrome. (3468364)
1986
17
Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)
1986
18
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)
1986
19
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
20
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
21
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)
1984
22
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
23
Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)
1981
24
Waardenburg's syndrome. (7203595)
1980
25
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
26
A possible animal model for Waardenburg's syndrome. (468455)
1979
27
Waardenburg's syndrome. (519746)
1979
28
Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)
1977
29
Waardenburg's syndrome in a girl. (1150316)
1975
30
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)
1974
31
Waardenburg's syndrome. Identification of patients. (4726720)
1973
32
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
33
Waardenburg's syndrome in an African child. (5444872)
1970
34
Waardenburg's syndrome. (5801408)
1969
35
Hypertelorism and Waardenburg's syndrome. (5801819)
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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Clinvar genetic disease variations for Waardenburg's Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316

Expression for genes affiliated with Waardenburg's Syndrome

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

Pathways for genes affiliated with Waardenburg's Syndrome

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GO Terms for genes affiliated with Waardenburg's Syndrome

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Biological processes related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:001482610.4EDN3, EDNRB
2vasoconstrictionGO:004231010.2EDN3, EDNRB
3posterior midgut developmentGO:000749710.1EDNRB, RET
4pigmentationGO:00434739.8EDNRB, SNAI2
5neural crest cell migrationGO:00017559.4EDN3, EDNRB, RET
6positive regulation of transcription, DNA-templatedGO:00458938.9MITF, PAX3, RET, SOX10
7sensory perception of soundGO:00076058.8GJB2, PAX3, SNAI2

Sources for Waardenburg's Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet