MCID: WRD001
MIFTS: 55

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:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 11 25 13
Waardenburg Syndrome 11 71 48 25 54 27 39 68
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 48 68
Van Der Hoeve Halbertsona Waardenburg Syndrome 11
Waardenburg, Types I and/or Ii 11
 
Waardenburg Syndrome, Type 4a 68
Waardenburg Shah Syndrome 11
Waardenburgs Syndrome 50
Mende Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
waardenburg syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:9258
MeSH39 D014849
Orphanet54 ORPHA3440
SNOMED-CT62 47434006
ICD10 via Orphanet31 E70.3
UMLS via Orphanet69 C0043008
MESH via Orphanet40 D014849

Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:48 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 4a and waardenburg syndrome, type 3, and has symptoms including Array, Array and Array. An important gene associated with Waardenburg's Syndrome is PAX3 (Paired Box 3), and among its related pathways are Melanin biosynthesis and TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are hearing/vestibular/ear and neoplasm.

Disease Ontology:11 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:25 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:71 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 4a32.8EDNRB, RET
2waardenburg syndrome, type 331.6ALPP, EDN3, MITF, PAX3, SOX10
3mend syndrome12.2
4pcwh syndrome11.8
5waardenburg syndrome type 411.6
6waardenburg syndrome, type 111.0
7waardenburg syndrome, type 2a11.0
8hirschsprung disease 111.0
9waardenburg syndrome, type 4b11.0
10waardenburg syndrome, type 4c11.0
11epiphyseal dysplasia, multiple, 310.3EDN3, EDNRB
12deafness, mitochondrial, modifier of10.3EDNRB, SOX10
13melanoma, cutaneous malignant 810.3MITF, TYR
14verrucous papilloma10.3MITF, SOX10, TYR
15focal facial dermal dysplasia 410.2PAX3, SOX10, TYR
16apocrine adenoma10.2EDNRB, RET, SOX10
17craniosynostosis 610.2MITF, TYR, TYRP1
18shprintzen-goldberg syndrome10.2EDN3, EDNRB, RET
19epilepsy, progressive myoclonic 510.2MITF, TYR
20external ear basal cell carcinoma10.2MITF, TYR
21wdha syndrome10.2EDN3, EDNRB, MITF, SOX10
22ariboflavinosis10.2EDN3, EDNRB, RET
23dihydrolipoamide dehydrogenase deficiency10.2GJB2, MITF, PAX3
24skin pilomatrix carcinoma10.2EDN3, EDNRB, RET, SOX10
25spinal meningioma10.2EDN3, EDNRB, RET, SOX10
26waardenburg syndrome/ocular albinism, digenic10.2MITF, TFE3
27collecting duct carcinoma10.2MITF, PAX3, TFE3
28chronic infections, due to mbl deficiency10.2EDN3, EDNRB, RET
29progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.1MITF, SOX10, TYR, TYRP1
30charcot-marie-tooth neuropathy, x-linked recessive, 210.1KITLG, MITF, SNAI2, SOX10
31dentinogenesis imperfecta, shields type ii10.1KITLG, MITF, PAX3, SNAI2
32ceroid lipofuscinosis, neuronal, 510.1EDN3, EDNRB, MITF, RET, SOX10
33spondyloarthropathy 310.1KIR2DS4, PAX3
34intracranial embolism10.1MITF, TYR
35epidermolysis bullosa simplex, recessive 110.1KITLG, MITF, TYR, TYRP1
36nail disorder, nonsyndromic congenital, 710.1KITLG, MITF, TYR, TYRP1
37cervical adenofibroma10.0EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
38tooth agenesis, selective, 510.0EDN3, EDNRB, MITF, PAX3, RET, SOX10
39microphthalmia10.0
40x-linked nonsyndromic deafness10.0GJB2, KITLG, MITF, PAX3
41aicardi-goutieres syndrome 610.0EDN3, MITF, PAX3, SOX10, TYR, TYRP1
42cystinosis9.9MITF, PAX6, TFE3, TYR, TYRP1
43myopathy of extraocular muscle7.9AEBP2, ALPP, EDN3, EDNRB, FN1, GJB2

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



Diseases related to waardenburg's syndrome

Symptoms & Phenotypes for Waardenburg's Syndrome

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Human phenotypes related to Waardenburg's Syndrome:

 54 64 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the uterus64 54 Occasional (29-5%) HP:0000130
2 abnormality of the vagina64 54 Occasional (29-5%) HP:0000142
3 abnormality of the mouth54 Frequent (79-30%)
4 abnormality of the lip64 54 Frequent (79-30%) HP:0000159
5 oral cleft64 54 Occasional (29-5%) HP:0000202
6 abnormality of the face54 Frequent (79-30%)
7 hearing impairment54 Very frequent (99-80%)
8 conductive hearing impairment64 54 Very frequent (99-80%) HP:0000405
9 prominent nasal bridge64 54 Very frequent (99-80%) HP:0000426
10 underdeveloped nasal alae64 54 Frequent (79-30%) HP:0000430
11 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
12 abnormality of the eye54 Frequent (79-30%)
13 abnormality of vision64 54 Very frequent (99-80%) HP:0000504
14 telecanthus64 54 Frequent (79-30%) HP:0000506
15 ptosis64 54 Occasional (29-5%) HP:0000508
16 abnormality of the eyebrow54 Frequent (79-30%)
17 lacrimation abnormality64 54 Frequent (79-30%) HP:0000632
18 synophrys64 54 Very frequent (99-80%) HP:0000664
19 abnormality of skin pigmentation54 Very frequent (99-80%)
20 hypopigmented skin patches64 54 Very frequent (99-80%) HP:0001053
21 heterochromia iridis64 54 Very frequent (99-80%) HP:0001100
22 abnormal facial shape64 54 Very frequent (99-80%) HP:0001999
23 white forelock64 54 Frequent (79-30%) HP:0002211
24 premature graying of hair64 54 Very frequent (99-80%) HP:0002216
25 aganglionic megacolon64 54 Occasional (29-5%) HP:0002251
26 myelomeningocele64 54 Occasional (29-5%) HP:0002475
27 intestinal obstruction64 54 Occasional (29-5%) HP:0005214
28 hypopigmentation of hair54 Very frequent (99-80%)
29 abnormality of the gastrointestinal tract54 Occasional (29-5%)
30 aplasia/hypoplasia of the colon64 54 Occasional (29-5%) HP:0100811

MGI Mouse Phenotypes related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

41 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0EDNRB, GJB2, KITLG, MITF, PAX3, PAX6
2MP:00020068.8EDNRB, FN1, KITLG, PAX3, PAX6, RET
3MP:00053898.1FN1, GJB2, KITLG, MITF, PAX1, PAX6
4MP:00053918.1EDNRB, GJB2, KITLG, MITF, PAX3, PAX6
5MP:00053767.9EDNRB, FN1, GJB2, KITLG, MITF, PAX3
6MP:00053857.8EDNRB, FN1, GJB2, KITLG, PAX1, PAX3
7MP:00053797.8EDNRB, KITLG, MITF, PAX1, PAX3, PAX6
8MP:00053847.8EDNRB, FN1, GJB2, KITLG, MITF, PAX1
9MP:00028737.8FN1, GJB2, MITF, PAX1, PAX3, PAX6
10MP:00053817.8AEBP2, EDN3, EDNRB, KITLG, PAX3, PAX6
11MP:00053827.6EDNRB, FN1, GJB2, KITLG, MITF, PAX1
12MP:00053807.6EDN3, EDNRB, FN1, GJB2, KITLG, MITF
13MP:00053717.4AEBP2, EDNRB, FN1, GJB2, KITLG, MITF
14MP:00053907.3EDNRB, FN1, GJB2, KITLG, MITF, PAX1
15MP:00053867.3AEBP2, EDN3, EDNRB, MITF, PAX1, PAX3
16MP:00053877.2EDNRB, FN1, GJB2, KITLG, MITF, PAX1
17MP:00036316.9EDN3, EDNRB, FN1, GJB2, KITLG, MITF
18MP:00011866.8AEBP2, EDN3, EDNRB, KITLG, MITF, PAX1
19MP:00053785.9AEBP2, EDNRB, FN1, GJB2, KITLG, MITF
20MP:00107685.8AEBP2, EDN3, EDNRB, FN1, GJB2, KITLG
21MP:00107715.5AEBP2, EDN3, EDNRB, FN1, GJB2, KITLG

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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Genetic tests related to Waardenburg's Syndrome:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome27

Anatomical Context for Waardenburg's Syndrome

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MalaCards organs/tissues related to Waardenburg's Syndrome:

36
Skin, Eye, Colon, Uterus, Bone, Neutrophil, Pituitary

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. (21970256)
2011
5
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
6
Cochlear implantation in Waardenburg's syndrome. (16012032)
2005
7
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. (15200507)
2004
8
Auditory neuropathy in siblings with Waardenburg's syndrome. (14550970)
2003
9
Temporal bone imaging findings in Waardenburg's syndrome. (11335009)
2001
10
Otopathology in a case of type I Waardenburg's syndrome. (11558766)
2001
11
Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. (10755116)
2000
12
Audiometric manifestations of Waardenburg's syndrome. (11011489)
2000
13
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
14
Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? (10190061)
1999
15
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
16
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
17
Waardenburg's syndrome a rare entity. (23119554)
1999
18
Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome. (9078934)
1997
19
Waardenburg's syndrome. (20952962)
1995
20
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
21
Waardenburg's syndrome. (7941767)
1993
22
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
23
Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. (1573954)
1992
24
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
25
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (1347148)
1992
26
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
27
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
28
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. (2609099)
1989
29
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
30
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
31
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)
1988
32
The eyes have it: Waardenburg's syndrome. (3468364)
1986
33
Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)
1986
34
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)
1986
35
Waardenburg's syndrome associated with ostium secundum atrial septal defect. (3795215)
1986
36
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
37
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
38
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)
1984
39
Waardenburg's syndrome associated with total aganglionosis. (6651333)
1983
40
Waardenburg's memorial lecture: Waardenburg's syndrome. (6749731)
1982
41
Waardenburg's syndrome: variations in expressivity. (6793979)
1981
42
Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)
1981
43
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
44
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
45
Waardenburg's syndrome. (6970403)
1980
46
Waardenburg's syndrome. (7203595)
1980
47
Waardenburg's syndrome. (7401140)
1980
48
Waardenburg's syndrome. (519746)
1979
49
A possible animal model for Waardenburg's syndrome. (468455)
1979
50
Waardenburg's syndrome: case reports in two Nigerians. (458527)
1979

Variations for Waardenburg's Syndrome

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Clinvar genetic disease variations for Waardenburg's Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1EDNRBNM_ 000115.4(EDNRB): c.169G> A (p.Gly57Ser)SNVrisk factorrs1801710GRCh37Chr 13, 78492540: 78492540
2SOX10NM_ 006941.3(SOX10): c.401T> C (p.Leu134Pro)SNVLikely pathogenicrs876657660GRCh37Chr 22, 38379391: 38379391
3EDNRBNM_ 000115.4(EDNRB): c.618G> A (p.Trp206Ter)SNVPathogenicrs876657688GRCh37Chr 13, 78477474: 78477474
4MITFNM_ 198159.2(MITF): c.(?_ 355)-1203_ *(78_ ?)deldeletionPathogenicGRCh38Chr 3, 69936619: 69965326
5MITFNM_ 198159.2(MITF): c.(?_ 938)-102_ *(78_ ?)deldeletionPathogenicGRCh38Chr 3, 69956353: 69965326
6MITFNM_ 000248.3(MITF): c.722G> A (p.Trp241Ter)SNVPathogenicrs876657698GRCh37Chr 3, 70008435: 70008435
7MITFNM_ 000248.3(MITF): c.808C> T (p.Arg270Ter)SNVPathogenicrs876657699GRCh37Chr 3, 70008521: 70008521
8MITFNM_ 000248.3(MITF): c.383C> G (p.Ser128Ter)SNVPathogenicrs876657700GRCh38Chr 3, 69941273: 69941273
9PAX3NM_ 001127366.2(PAX3): c.(?_ -77)_ (583_ ?)+547deldeletionPathogenicGRCh37Chr 2, 223158339: 223163411
10PAX3NM_ 181457.3(PAX3): c.668G> A (p.Arg223Gln)SNVPathogenicrs876657717GRCh38Chr 2, 222232202: 222232202
11SOX10NM_ 006941.3(SOX10): c.(?_ 698)_ (1401_ ?)del (p.(?))deletionPathogenicGRCh37Chr 22, 38369502: 38370205
12MITFNM_ 198159.2(MITF): c.794A> G (p.Tyr265Cys)SNVLikely pathogenicrs1057518765GRCh38Chr 3, 69949082: 69949082

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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Cellular components related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:003316210.0TYR, TYRP1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:004243810.8TYR, TYRP1
2lacrimal gland developmentGO:003280810.7PAX6, SOX10
3positive regulation of neuroblast proliferationGO:000205210.7PAX6, SOX10
4posterior midgut developmentGO:000749710.7EDNRB, RET
5response to painGO:004826510.7EDNRB, RET
6enteric nervous system developmentGO:004848410.6EDNRB, RET, SOX10
7regulation of osteoclast differentiationGO:004567010.4MITF, TFE3
8melanocyte differentiationGO:003031810.2EDN3, EDNRB, MITF, SOX10, TYRP1
9pigmentationGO:004347310.1EDNRB, MITF, SNAI2, TYR, TYRP1
10vasoconstrictionGO:004231010.1EDN3, EDNRB
11vein smooth muscle contractionGO:001482610.1EDN3, EDNRB
12neural crest cell migrationGO:000175510.1EDN3, EDNRB, KITLG, RET, SOX10
13positive regulation of transcription, DNA-templatedGO:00458939.5MITF, PAX3, PAX6, RET, SOX10, TFE3
14positive regulation of transcription from RNA polymerase II promoterGO:00459449.3MITF, PAX1, PAX3, PAX6, SOX10, TFE3
15transcription from RNA polymerase II promoterGO:00063669.0MITF, PAX1, PAX3, PAX6, SOX10, TFE3

Molecular functions related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:007183710.7PAX3, PAX6
2transcription factor activity, sequence-specific DNA bindingGO:00037009.2MITF, PAX1, PAX3, PAX6, SOX10, TFE3
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.0MITF, PAX1, PAX6, TFE3
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.7AEBP2, MITF, PAX1, PAX6, SOX10, TFE3

Sources for Waardenburg's Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet