MCID: WRD001
MIFTS: 51

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 131.1MITF, PAX3, SOX10
2hirschsprung disease 130.7EDN3, EDNRB, RET
3waardenburg syndrome, type 2e, with or without neurologic involvement12.6
4mend syndrome12.5
5pcwh syndrome12.1
6waardenburg syndrome, type 4a11.9
7waardenburg syndrome type 411.9
8waardenburg syndrome, type 4b11.5
9waardenburg syndrome, type 4c11.5
10waardenburg syndrome, type 310.6
11waardenburg syndrome, type 2a10.6
12laryngitis10.4
13waardenburg syndrome/ocular albinism, digenic10.3MITF, TYR
14idiopathic macular telangiectasia type 110.3MITF, TYR
15wagner syndrome10.3EDNRB, SOX10
16merrf syndrome10.3PAX3, SOX10
17hereditary renal cell carcinoma10.3MITF, PAX3
18albinism, oculocutaneous, type ib10.3MITF, TYR
19pyloric stenosis, infantile hypertrophic, 310.2MITF, TYR
20melanoma, cutaneous malignant 810.2MITF, TYR
21malignant breast melanoma10.2MITF, TYR
22corneal disease10.2MITF, TYR
23primary cutaneous amyloidosis10.1MITF, TYR
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 return10.0MITF, PAX3, SNAI2
29ocular albinism with sensorineural deafness10.0MITF, SNAI2, SOX10
30glucose metabolism disease10.0GJB2, MITF
31spina bifida occulta10.0EDNRB, RET
32oliver-mcfarlane syndrome10.0FN1, RET
33labyrinthine unilateral reactive loss10.0EDNRB, RET
34lynch syndrome9.9EDN3, RET, SOX10
35brachyolmia9.9FN1, MITF, TYR
36anterior spinal artery syndrome9.9MITF, PAX3, SOX10, TYR
37shprintzen-goldberg syndrome9.9EDN3, EDNRB, RET
38afferent loop syndrome9.9EDN3, EDNRB, RET
39liver leiomyosarcoma9.8EDNRB, RET
40focal epithelial hyperplasia9.7EDN3, EDNRB, RET, SOX10
41anal spasm9.7EDN3, EDNRB, RET, SOX10
42autosomal recessive disease9.6GJB2, PAX3, RET
43familial abdominal aortic aneurysm9.6FN1, RET
44diabetes mellitus, noninsulin-dependent, 59.5EDN3, EDNRB, MITF, RET, SOX10
45conjunctival intraepithelial neoplasm9.4EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
46chronic infections, due to mbl deficiency9.3EDN3, EDNRB, MITF, PAX3, RET, SOX10
47nasopharynx carcinoma7.8EDN3, 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

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, Endothelial, Uterus, T cells, B cells

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
Mechanisms of azole resistance among clinical isolates of Candida glabrata in Poland. (25818698)
2015
2
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
3
Meta-analysis of the efficacy of lansoprazole and omeprazole for the treatment of H.pylori-associated duodenal ulcer. (26823965)
2015
4
The role of loose seton in the management of anal fistula: a multicenter study of 200 patients. (24989839)
2014
5
Expression of RAGE and HMGB1 in thymic epithelial tumors, thymic hyperplasia and regular thymic morphology. (24705787)
2014
6
Regulation of coagulation factor XI expression by microRNAs in the human liver. (25379760)
2014
7
Are we there yet? Electroencephalography as a diagnostic tool for attention-deficit/hyperactivity disorder. (24157383)
2013
8
Refractory and massive lymphocele in a transplant patient with encapsulating peritoneal sclerosis treated with a single infusion of bleomycin: a case report. (24034060)
2013
9
The relationship of sleep duration and insomnia to risk of hypertension incidence: a meta-analysis of prospective cohort studies. (24005775)
2013
10
The CDK1 inhibitory kinase MYT1 in DNA damage checkpoint recovery. (23146904)
2013
11
A Study of Various Histopathological Features and their Relevance in Pathogenesis of Psoriasis. (23919001)
2013
12
Securin predicts aneuploidy and survival in breast cancer. (22260438)
2012
13
Comorbidity of attention-deficit/hyperactivity disorder, Tourette's syndrome and bipolar I disorder in an adolescent patient with schizencephaly. (22285365)
2012
14
Long-term follow-up of patients with cardiac sarcoidosis and implantable cardioverter-defibrillators. (22338670)
2012
15
Vasomotor reactivity as a predictor for syncope in patients with orthostatism. (21916853)
2012
16
Topical and intralesional therapies for alopecia areata. (21689245)
2011
17
S1P1 and VEGFR-2 form a signaling complex with extracellularly regulated kinase 1/2 and protein kinase C-alpha regulating ML-1 thyroid carcinoma cell migration. (20501673)
2010
18
Tacripyrines, the first tacrine-dihydropyridine hybrids, as multitarget-directed ligands for the treatment of Alzheimer's disease. (19374444)
2009
19
Eosinophilic esophagitis due to profilin allergy. (19639743)
2009
20
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. (18678379)
2008
21
Short-term or long-term treatments with a phosphodiesterase-4 (PDE4) inhibitor result in opposing agonist-induced Ca(2+) responses in endothelial cells. (18311187)
2008
22
The influence of different stimulation conditions on the assessment of antigen-induced CD154 expression on CD4+ T cells. (18785645)
2008
23
An update on treatment strategies for acromegaly. (18710352)
2008
24
Multicentric reticulohistiocytosis associated with Burkitt lymphoma and adenocarcinoma. (18792542)
2008
25
Pharmacological therapy of obesity]. (18773755)
2008
26
Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity. (17186219)
2007
27
Cadherins, RhoA, and Rac1 are differentially required for stretch-mediated proliferation in endothelial versus smooth muscle cells. (17712140)
2007
28
Mouse models for studies of cardiovascular complications of type 1 diabetes. (17376839)
2007
29
Outcome in patients who underwent tethered cord release for occult spinal dysraphism. (16945634)
2006
30
Supraclavicular mass disguising as thoracic outlet syndrome. (16231118)
2006
31
Cancer genetics: colorectal cancer as a model. (16596323)
2006
32
Panic induction with cholecystokinin-tetrapeptide (CCK-4) Increases plasma concentrations of the neuroactive steroid 3alpha, 5alpha tetrahydrodeoxycorticosterone (3alpha, 5alpha-THDOC) in healthy volunteers. (15467707)
2005
33
Susceptibility of striatal neurons to excitotoxic injury correlates with basal levels of Bcl-2 and the induction of P53 and c-Myc immunoreactivity. (15922606)
2005
34
A study of arteriosclerosis in healthy subjects with HBV and HCV infection. (16322949)
2005
35
A novel selective peroxisome proliferator-activated receptor alpha agonist, 2-methyl-c-5-[4-[5-methyl-2-(4-methylphenyl)-4-oxazolyl]butyl]-1,3-dioxane-r-2-carboxylic acid (NS-220), potently decreases plasma triglyceride and glucose levels and modifies lipoprotein profiles in KK-Ay mice. (14982965)
2004
36
Residue 182 influences the second step of protein-tyrosine phosphatase-mediated catalysis. (14572311)
2004
37
Bursitis as a cause of plantar heel pain: a case report. (12540088)
2003
38
Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomyopathy affects actomyosin interaction in different ways. (14596793)
2003
39
Induction of IgG subclass responses in colorectal carcinoma patients vaccinated with recombinant carcinoembryonic antigen. (11888906)
2002
40
Protein kinase C as a drug target: implications for drug or diet prevention and treatment of cancer. (11465069)
2000
41
Modulation of parathyroid cell function by calcium ion in health and uremia. (10372834)
1999
42
Therapeutic concentrations of cyclosporine A, but not FK506, increase P-glycoprotein expression in endothelial and renal tubule cells. (9767529)
1998
43
Methylation of the multi tumor suppressor gene-2 (MTS2, CDKN1, p15INK4B) in childhood acute lymphoblastic leukemia. (9399648)
1997
44
Tumor-associated proteolysis and prognosis: new functional risk factors in gastric cancer defined by the urokinase-type plasminogen activator system. (7636552)
1995
45
Phorbol ester stimulates rapid intracellular phosphorylation of glia maturation factor. (7598724)
1995
46
Wortmannin inhibits the effects of insulin and serum on the activities of glycogen synthase kinase-3 and mitogen-activated protein kinase. (7945234)
1994
47
Proliferation of dendritic cells in the bronchioles of sudden infant death syndrome victims. (8346185)
1993
48
Steroid-induced reduction of histamine release does not alter the clinical nasal response to cold, dry air. (1706910)
1991
49
Childhood dermatitis herpetiformis. (1806225)
1991
50
Multilamelled structures from the lungs of patients with pulmonary alveolar proteinosis. (6547192)
1984

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