MCID: WRD001
MIFTS: 57

Waardenburg's Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Waardenburg's Syndrome

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Sources:
60UMLS, 9Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 41NIH Rare Diseases, 47Orphanet, 11DISEASES, 43Novoseek, 38NCIt, 33MeSH, 27ICD9CM, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Waardenburg's Syndrome, Aliases & Descriptions:

Name: Waardenburg's Syndrome 9 21
Waardenburg Syndrome 9 63 41 21 47 60
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 41 60
Waardenburgs Syndrome 11 43
Van Der Hoeve Halbertsona Waardenburg Syndrome 9
Male Ebp Disorder with Neurological Defects 47
Waardenburg, Types I and/or Ii 9
 
Waardenburg Syndrome, Type 4a 60
Waardenburg-Klein Syndrome 9
Waardenburg Shah Syndrome 9
Klein's Syndrome 60
Mende Syndrome 41
Mend Syndrome 47
Ws 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
waardenburg syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:9258
NCIt38 C85222
MeSH33 D014849
ICD9CM27 270.2
SNOMED-CT55 47434006
Orphanet47 3440, 401973
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C0043008
MESH via Orphanet34 D014849

Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:41 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 based summary: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to neural tube defects and microphthalmia, 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 Transcription factors in neurogenesis. The compounds kojic acid and bq610 have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are hearing/vestibular/ear and tumorigenesis.

Disease Ontology:9 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: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.

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 76)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects30.9PAX3
2microphthalmia30.9MITF, PAX3, TYR
3ocular albinism30.8TYR
4piebaldism30.7PAX3, MITF, SNAI2
5waardenburg syndrome type 430.6EDNRB, EDN3, SOX10, RET, MITF
6hirschsprung disease 130.4EDNRB, EDN3, SOX10, RET
7waardenburg syndrome, type 110.8
8waardenburg syndrome, type 310.7
9waardenburg syndrome, type 2e, with or without neurologic involvement10.7
10waardenburg syndrome, type 2a10.7
11williams-beuren syndrome10.6
12waardenburg syndrome, type 4a10.6
13waardenburg syndrome, type 2b10.6
14waardenburg syndrome, type 2c10.5
15waardenburg syndrome, type 2d10.5
16waardenburg syndrome, type 4b10.5
17waardenburg syndrome, type 4c10.5
18werner syndrome10.4
19waardenburg syndrome/ocular albinism, digenic10.4
20pcwh syndrome10.4
21heterochromia iridis10.3
22melanoma, cutaneous malignant 810.3MITF, TYR
23malignant peripheral nerve sheath tumor10.3MITF, SOX10
24pigmentation disease10.3MITF, TYR
25albinism10.3
26neurofibroma10.3MITF, SOX10
27angiomyolipoma10.3MITF, TYR
28sensorineural hearing loss10.3SOX10, MITF
29megacolon10.2
30anophthalmos with limb anomalies10.2
31arbovirosis10.2
32myelomeningocele10.2
33neurologic waardenburg-shah syndrome10.2
34vitiligo-associated multiple autoimmune disease susceptibility 110.2MITF, TYR
35uveal melanoma10.2MITF, TYR
36bile reflux10.1
37neurilemmoma10.1TYR, SOX10, MITF
38pulmonary hypertension10.1EDN3, EDNRB
39central hypoventilation syndrome, congenital10.1EDNRB, EDN3, RET
40intestinal obstruction10.1RET, EDN3, EDNRB
41pheochromocytoma10.0RET, EDN3, EDNRB
42small patella syndrome10.0
43albinism-deafness syndrome10.0
44duchenne muscular dystrophy10.0
45meningocele10.0
46cleft lip10.0
47hypogonadotropism10.0
48crest syndrome10.0
49down syndrome10.0
50amblyopia10.0

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:

 47 (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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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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MalaCards organs/tissues related to Waardenburg's Syndrome:

31
Skin, Eye, Colon, Uterus, Bone, Pituitary, Neutrophil

Animal Models for Waardenburg's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

35 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8MITF, ASS1, PAX3, EDNRB
2MP:00020068.3EDNRB, TYR, SOX10, PAX3, RET
3MP:00053918.3EDNRB, TYR, PAX3, ASS1, MITF, SNAI2
4MP:00053718.2EDNRB, TYR, SOX10, PAX3, RET, MITF
5MP:00011868.2SNAI2, EDNRB, EDN3, TYR, SOX10, PAX3
6MP:00053828.1EDNRB, SOX10, PAX3, MITF, SNAI2, GSK3B
7MP:00030127.9TYR, PAX3, RET, MITF, GSK3B
8MP:00053907.9EDNRB, TYR, PAX3, MITF, SNAI2, GSK3B
9MP:00053677.8GSK3B, RET, PAX3, TYR, EDNRB
10MP:00053857.8GSK3B, RET, PAX3, TYR, EDNRB
11MP:00053797.5TYR, SOX10, PAX3, RET, MITF, SNAI2
12MP:00053807.4EDNRB, EDN3, TYR, EBP, SOX10, PAX3
13MP:00053847.4EDNRB, TYR, SOX10, PAX3, ASS1, RET
14MP:00107717.3EDNRB, EDN3, TYR, EBP, SOX10, PAX3
15MP:00028737.2TYR, SOX10, PAX3, ASS1, RET, MITF
16MP:00053817.0EDNRB, EDN3, SOX10, PAX3, ASS1, RET
17MP:00053876.9EDNRB, TYR, PAX3, ASS1, RET, MITF
18MP:00053766.7EDNRB, TYR, SOX10, PAX3, ASS1, RET
19MP:00053786.2EDNRB, TYR, EBP, SOX10, PAX3, ASS1
20MP:00053866.2SOX10, TYR, EDN3, EDNRB, PAX3, ASS1
21MP:00036316.2SOX10, TYR, EDN3, EDNRB, PAX3, ASS1
22MP:00107685.8EDNRB, EDN3, TYR, EBP, SOX10, PAX3

Publications for Waardenburg's Syndrome

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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. (25565054)
2014
2
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
3
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
4
Waardenburg's syndrome a rare entity. (23119554)
1999
5
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
6
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
7
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
8
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
9
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
10
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
11
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
12
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
13
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
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. (519746)
1979
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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Clinvar genetic disease variations for Waardenburg's Syndrome:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1MITFMITF, IVS1DS, G-A, +1single nucleotide variantPathogenic
2MITFMITF, IVS4AS, A-C, -2single nucleotide variantPathogenic
3MITFNM_198159.2(MITF): c.1051T> C (p.Ser351Pro)single nucleotide variantPathogenicrs104893744GRCh37Chr 3, 70008461: 70008461
4MITFMITF, 1-BP DELdeletionPathogenic
5MITFNM_198159.2(MITF): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs104893746GRCh37Chr 3, 70005611: 70005611
6MITFNM_198159.2(MITF): c.1195T> C (p.Ser399Pro)single nucleotide variantPathogenicrs104893747GRCh37Chr 3, 70014031: 70014031
7NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316
8NM_000115.3(EDNRB): c.548C> G (p.Ala183Gly)single nucleotide variantPathogenicrs104894388GRCh37Chr 13, 78477678: 78477678
9NM_000115.3(EDNRB): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenicrs104894390GRCh37Chr 13, 78477335: 78477335
10PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
11PAX3PAX3, 1-BP DEL, 556CdeletionPathogenic
12PAX3PAX3, 18-BP DEL, EX2deletionPathogenic
13PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
14PAX3PAX3, 14-BP DEL, EX2deletionPathogenic
15PAX3PAX3, 1-BP DELdeletionPathogenic
16PAX3PAX3, 2-BP DEL, 556CAdeletionPathogenic
17PAX3NM_181457.3(PAX3): c.242G> C (p.Gly81Ala)single nucleotide variantPathogenicGRCh37Chr 2, 223161875: 223161875
18PAX3PAX3, 5-BP DEL, EX5deletionPathogenic
19PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
20PAX3NM_181457.3(PAX3): c.139A> C (p.Asn47His)single nucleotide variantPathogenicrs104893653GRCh37Chr 2, 223161879: 223161879
21PAX3PAX3, 13-BP DEL, NT384deletionPathogenic
22PAX3NM_181457.3(PAX3): c.268T> C (p.Tyr90His)single nucleotide variantPathogenicrs104893654GRCh37Chr 2, 223161750: 223161750
23PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851
24SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PAX3, MITF
29.6EDN3, EDNRB
39.5SOX10, PAX3, MITF
4
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.0SNAI2, MITF, GSK3B
58.7MITF, RET, GSK3B
6
Show member pathways
8.4EDNRB, MITF, GSK3B, TYR
78.3SNAI2, GSK3B, SOX10, PAX3, MITF

Compounds for genes affiliated with Waardenburg's Syndrome

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

(show all 33)
idCompoundScoreTop Affiliating Genes
1kojic acid4310.0MITF, TYR
2bq6104310.0EDNRB, EDN3
3pd 1428934310.0EDNRB, EDN3
4bq 302043 2811.0EDNRB, EDN3
5irl 162043 2811.0EDNRB, EDN3
6fr13931743 2811.0EDNRB, EDN3
7sarafotoxin4310.0EDNRB, EDN3
8tezosentan4310.0EDNRB, EDN3
9bq78843 2811.0EDN3, EDNRB
10bosentan43 1211.0EDN3, EDNRB
11hmba439.9MITF, TYR
12phosphoramidon43 1210.8EDNRB, EDN3
13dopachrome439.6TYR, SOX10, MITF
14tetrahydrobiopterin43 24 1211.6ASS1, TYR
15bq12343 2810.5EDNRB, EDN3, TYR
16indomethacin43 28 59 1212.2TYR, EDN3, EDNRB
17oligonucleotide439.2MITF, RET, PAX3, EDN3
18paraffin439.0MITF, RET, TYR
19adenylate438.9EDNRB, EDN3, TYR, ASS1
20dexamethasone43 49 28 1211.9EDNRB, EDN3, TYR, ASS1
21vegf438.7EDNRB, EDN3, TYR, RET
22cyclic amp43 249.6GSK3B, MITF, RET, EDN3
23glutamate438.6EDNRB, EDN3, TYR, ASS1, MITF
24potassium43 24 1210.5EDNRB, EDN3, GSK3B
25cysteine438.5RET, PAX3, TYR, EDNRB
26testosterone43 59 24 1211.4EDN3, TYR, RET, GSK3B
27phosphatidylinositol438.4EDNRB, EDN3, RET, GSK3B
28aspartate438.4EDNRB, EDN3, TYR, ASS1, RET
29atp43 289.1EDN3, ASS1, RET, GSK3B
30arginine438.1EDNRB, EDN3, TYR, ASS1, RET, MITF
31serine437.9EDNRB, EDN3, TYR, RET, GSK3B
32alanine437.5EDNRB, EDN3, TYR, ASS1, RET, GSK3B
33tyrosine437.2GSK3B, EDNRB, EDN3, TYR, PAX3, RET

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
1membrane raftGO:00451218.6GSK3B, RET, EDNRB

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:00148269.8EDNRB, EDN3
2vasoconstrictionGO:00423109.6EDN3, EDNRB
3posterior midgut developmentGO:00074979.6RET, EDNRB
4response to painGO:00482659.5RET, EDNRB
5positive regulation of cell proliferationGO:00082849.4PAX3, EDN3, EDNRB
6peripheral nervous system developmentGO:00074229.3SOX10, EDNRB
7epithelial to mesenchymal transitionGO:00018379.2GSK3B, SNAI2
8enteric nervous system developmentGO:00484849.2RET, SOX10, EDNRB
9melanocyte differentiationGO:00303189.2MITF, SOX10, EDN3, EDNRB
10negative regulation of canonical Wnt signaling pathwayGO:00900909.0SNAI2, GSK3B, SOX10
11neural crest cell migrationGO:00017558.6RET, PAX3, SOX10, EDN3, EDNRB

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.1MITF, SOX10, PAX3, SNAI2
2chromatin bindingGO:00036828.9SNAI2, SOX10, PAX3, MITF
3protein bindingGO:00055156.5TYR, SOX10, PAX3, ASS1, RET, MITF

Products for genes affiliated with Waardenburg's Syndrome

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  • Antibodies
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Sources for Waardenburg's Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet