MCID: WRD001
MIFTS: 56

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:
66UMLS, 11Disease Ontology, 24Genetics Home Reference, 13DISEASES, 69Wikipedia, 46NIH Rare Diseases, 52Orphanet, 25GTR, 37MeSH, 48Novoseek, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 11 24 13
Waardenburg Syndrome 11 69 46 24 52 25 37 66
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 46 66
Van Der Hoeve Halbertsona Waardenburg Syndrome 11
Waardenburg, Types I and/or Ii 11
Waardenburg Syndrome, Type 4a 66
 
Waardenburg-Klein Syndrome 11
Waardenburg Shah Syndrome 11
Waardenburgs Syndrome 48
Klein's Syndrome 66
Mende Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
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
MeSH37 D014849
Orphanet52 ORPHA3440
SNOMED-CT60 47434006
ICD10 via Orphanet29 E70.3
MESH via Orphanet38 D014849
UMLS via Orphanet67 C0043008

Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:46 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 hirschsprung disease 1 and waardenburg syndrome, type 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 Neural Crest Differentiation and Regulation of KIT signaling. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are renal/urinary system and muscle.

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:24 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:69 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 top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung disease 130.9EDN3, EDNRB, RET
2waardenburg syndrome, type 130.8EDN3, MITF, PAX3, SOX10
3mend syndrome12.3
4pcwh syndrome11.7
5waardenburg syndrome, type 4a11.5
6waardenburg syndrome type 411.5
7waardenburg syndrome, type 4b11.2
8waardenburg syndrome, type 4c11.2
9waardenburg syndrome/ocular albinism, digenic10.7MITF, TYR
10pyloric stenosis, infantile hypertrophic, 310.7MITF, TYR
11albinism, oculocutaneous, type ib10.7MITF, TYR
12melanoma, cutaneous malignant 810.7MITF, TYR
13anal margin carcinoma10.7MITF, TYR
14stomach diverticulosis10.7MITF, TYR
15agammaglobulinemia 410.5PAX3, SOX10, TYR
16hyperglycemia10.5GJB2, MITF
17placental insufficiency10.5EDNRB, RET, SOX10
18skin glomus tumor10.5KIT, MITF
19shprintzen-goldberg syndrome10.4EDN3, EDNRB, RET
20necrotizing ulcerative gingivitis10.4PAX6, RET
21postgastrectomy syndrome10.4EDN3, EDNRB, RET
22hypervitaminosis a10.4KIT, MITF
23hirschsprung nail hypoplasia dysmorphism10.3EDN3, EDNRB, MITF, SOX10
24glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.3PAX6, TYR
25hypogonadotropic hypogonadism 24 without anosmia10.3PAX3, PAX6, TYR
26pulmonary immaturity10.3KIT, MITF, SOX10
27central hypoventilation syndrome, congenital10.3EDNRB, RET
28filamentary keratitis10.3KIT, KITLG
29corneal granular dystrophy10.2KIT, KITLG
30autism susceptibility 1610.2MITF, TYR, TYRP1
31epithelioid type angiomyolipoma10.2KIT, MITF, TYR
32arterial calcification of infancy10.2MITF, TYR, TYRP1
33diffuse cutaneous mastocytosis10.2KIT, KITLG
34gnathomiasis10.2EDN3, EDNRB, RET, SOX10
35y-linked disease10.2GJB2, PAX3, RET
36vulvar sarcoma10.2KIT, TYR
37pericoronitis10.2KIT, KITLG
38heavy chain disease10.2KIT, MITF, TYR
39charcot-marie-tooth neuropathy, x-linked recessive, 210.2KITLG, MITF, SNAI2, SOX10
40movement disease10.2KIT, KITLG
41brown-vialetto-van laere syndrome10.2KIT, MITF, TYR
42autosomal recessive non-syndromic intellectual disability10.2KIT, KITLG
43waardenburg syndrome, type 310.2
44waardenburg syndrome, type 2a10.2
45epithelioid cell melanoma10.2KIT, TYR
46heterochromia iridis10.1
47ciliary body spindle cell melanoma10.1KIT, MITF, TYR
48microphthalmia10.1
49vulvar melanoma10.1EDNRB, KIT, RET
50mastroiacovo de rosa satta syndrome10.0KIT, KITLG

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:

 52 (show all 30)
  • abnormality of the uterus
  • abnormality of the vagina
  • abnormality of the mouth
  • abnormality of the lip
  • oral cleft
  • abnormality of the face
  • hearing impairment
  • conductive hearing impairment
  • prominent nasal bridge
  • underdeveloped nasal alae
  • wide nasal bridge
  • abnormality of the eye
  • abnormality of vision
  • telecanthus
  • ptosis
  • abnormality of the eyebrow
  • lacrimation abnormality
  • synophrys
  • abnormality of skin pigmentation
  • hypopigmented skin patches
  • heterochromia iridis
  • abnormal facial shape
  • white forelock
  • premature graying of hair
  • aganglionic megacolon
  • myelomeningocele
  • intestinal obstruction
  • hypopigmentation of hair
  • abnormality of the gastrointestinal tract
  • aplasia/hypoplasia of the colon

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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Genetic tests related to Waardenburg's Syndrome:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome25

Anatomical Context for Waardenburg's Syndrome

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MalaCards organs/tissues related to Waardenburg's Syndrome:

34
Skin, Eye, Colon, Uterus, Bone, Neutrophil, Pituitary

Animal Models for Waardenburg's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

39 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7EDNRB, KIT, PAX3, PAX6, RET, TYR
2MP:00053698.3COL6A3, EDNRB, FN1, KIT, PAX3, PAX6
3MP:00011867.6EDN3, EDNRB, KIT, KITLG, MITF, PAX3
4MP:00053827.6EDNRB, FN1, GJB2, KIT, KITLG, MITF
5MP:00053797.6EDNRB, KIT, KITLG, MITF, PAX3, PAX6
6MP:00020067.6EDNRB, FN1, KIT, KITLG, PAX3, PAX6
7MP:00053777.5ASS1, EDNRB, GJB2, KIT, KITLG, MITF
8MP:00053897.4FN1, GJB2, KIT, KITLG, MITF, PAX6
9MP:00053857.3EDNRB, FN1, GJB2, KIT, KITLG, PAX3
10MP:00053817.2ASS1, EDN3, EDNRB, KIT, KITLG, PAX3
11MP:00028737.0ASS1, FN1, GJB2, KIT, MITF, PAX3
12MP:00053716.9EDNRB, FN1, GJB2, KIT, KITLG, MITF
13MP:00053806.8EDN3, EDNRB, FN1, GJB2, KIT, KITLG
14MP:00053876.5ASS1, EDNRB, FN1, GJB2, KIT, KITLG
15MP:00053866.5ASS1, EDN3, EDNRB, KIT, MITF, PAX3
16MP:00053906.2COL6A3, EDNRB, FN1, GJB2, KIT, KITLG
17MP:00107716.0ASS1, EDN3, EDNRB, FN1, GJB2, KIT
18MP:00053915.9ASS1, COL6A3, EDNRB, GJB2, KIT, KITLG
19MP:00053845.9ASS1, COL6A3, EDNRB, FN1, GJB2, KIT
20MP:00107685.5ASS1, EDN3, EDNRB, FN1, GJB2, KIT
21MP:00036315.5ASS1, EDN3, EDNRB, FN1, GJB2, KIT
22MP:00053765.4ASS1, EDNRB, FN1, GJB2, KIT, KITLG
23MP:00053784.9ASS1, COL6A3, EDNRB, FN1, GJB2, KIT

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
Cochlear implantation in Waardenburg's syndrome. (16012032)
2005
6
Temporal bone imaging findings in Waardenburg's syndrome. (11335009)
2001
7
Otopathology in a case of type I Waardenburg's syndrome. (11558766)
2001
8
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
9
Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. (10755116)
2000
10
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
11
Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? (10190061)
1999
12
Waardenburg's syndrome. (20952962)
1995
13
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
14
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
15
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (1347148)
1992
16
Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. (1573954)
1992
17
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
18
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
19
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. (2609099)
1989
20
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
21
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
22
Waardenburg's syndrome associated with total aganglionosis. (6651333)
1983
23
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
24
Waardenburg's syndrome: variations in expressivity. (6793979)
1981
25
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
26
Waardenburg's syndrome. (7401140)
1980
27
Waardenburg's syndrome. (6970403)
1980
28
A possible animal model for Waardenburg's syndrome. (468455)
1979
29
Waardenburg's syndrome. (519746)
1979
30
Waardenburg's syndrome. (115785)
1979
31
Waardenburg's syndrome: case reports in two Nigerians. (458527)
1979
32
Waardenburg's syndrome. (417897)
1978
33
Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)
1977
34
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)
1974
35
Waardenburg's Syndrome. Case report. (4656968)
1972
36
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
37
A case of Waardenburg's syndrome. (5564164)
1971
38
Waardenburg's syndrome in an African child. (5444872)
1970
39
Waardenburg's syndrome. (5801408)
1969
40
Waardenburg's syndrome with bilateral cleft lip. (5765156)
1969
41
Waardenburg's syndrome. (5350430)
1969
42
Vestibular function and additional findings in Waardenburg's syndrome. (4870323)
1968
43
Waardenburg's syndrome during the first year of life. (6059431)
1967
44
Waardenburg's syndrome with fundus and other anomalies. (4958935)
1966
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 in father and daughter. (13984948)
1962
49
Waardenburg's syndrome. (14010515)
1962
50
Waardenburg's syndrome--report of a case in a non-Dutch family. (13750394)
1961

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
2NM_000115.3(EDNRB): c.618G> A (p.Trp206Ter)single nucleotide variantPathogenicrs876657688GRCh38Chr 13, 77903339: 77903339
3MITFNM_198159.2(MITF): c.(?_355)-1203_*(78_?)deldeletionPathogenic
4MITFNM_198159.2(MITF): c.(?_938)-102_*(78_?)deldeletionPathogenic
5MITFNM_000248.3(MITF): c.722G> A (p.Trp241Ter)single nucleotide variantPathogenicrs876657698GRCh37Chr 3, 70008435: 70008435
6MITFNM_000248.3(MITF): c.808C> T (p.Arg270Ter)single nucleotide variantPathogenicrs876657699GRCh37Chr 3, 70008521: 70008521
7MITFNM_000248.3(MITF): c.383C> G (p.Ser128Ter)single nucleotide variantPathogenicrs876657700GRCh38Chr 3, 69941273: 69941273
8PAX3NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547deldeletionPathogenic
9PAX3NM_181457.3(PAX3): c.668G> A (p.Arg223Gln)single nucleotide variantPathogenicrs876657717GRCh38Chr 2, 222232202: 222232202
10SOX10NM_006941.3(SOX10): c.(?_698)_(1401_?)del (p.(?))deletionPathogenic

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:00331629.9TYR, TYRP1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:001482610.7EDN3, EDNRB
2lacrimal gland developmentGO:003280810.6PAX6, SOX10
3posterior midgut developmentGO:000749710.6EDNRB, RET
4vasoconstrictionGO:004231010.6EDN3, EDNRB
5response to painGO:004826510.4EDNRB, RET
6enteric nervous system developmentGO:004848410.4EDNRB, RET, SOX10
7regulation of developmental pigmentationGO:004807010.3EDN3, KIT
8melanin biosynthetic processGO:004243810.3TYR, TYRP1
9embryonic hemopoiesisGO:003516210.1KIT, KITLG
10developmental pigmentationGO:004806610.1EDNRB, KIT
11ectopic germ cell programmed cell deathGO:003523410.1KIT, KITLG
12sensory perception of soundGO:00076059.8GJB2, PAX3, SNAI2
13positive regulation of neuroblast proliferationGO:00020529.8PAX6, SOX10
14positive regulation of MAP kinase activityGO:00434069.6EDN3, KIT, KITLG
15neural crest cell migrationGO:00017559.5EDN3, EDNRB, KITLG, RET, SOX10
16cellular response to lipopolysaccharideGO:00712229.5ASS1, EDNRB, FN1
17positive regulation of transcription, DNA-templatedGO:00458939.4MITF, PAX3, PAX6, RET, SOX10
18melanocyte differentiationGO:00303189.2EDN3, EDNRB, KIT, MITF, SOX10, TYRP1
19negative regulation of apoptotic processGO:00430668.9EDNRB, FN1, KITLG, SNAI2, SOX10
20positive regulation of gene expressionGO:00106288.9FN1, KIT, MITF, PAX6, RET
21positive regulation of cell proliferationGO:00082848.6EDN3, EDNRB, FN1, KIT, KITLG
22pigmentationGO:00434738.5EDNRB, KIT, SNAI2, TYR, TYRP1

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

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:00718379.9PAX3, PAX6
2Ras guanyl-nucleotide exchange factor activityGO:00050888.9KIT, KITLG, RET

Sources for Waardenburg's Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet