Waardenburg's Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Waardenburg's Syndrome

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:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Skin diseases

See all MalaCards categories (disease lists)

ICD10: ²⁸

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Albinism

Orphanet: ⁵¹

Rare eye diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology¹⁰ DOID:9258

MeSH³⁶ D014849

NCIt⁴² C75008, C85222

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

Sources:
¹⁰Disease Ontology, ²³Genetics Home Reference, ⁴⁵NIH Rare Diseases, ⁶⁸Wikipedia, ³³MalaCards
See all MalaCards sources

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

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	waardenburg syndrome, type 1	30.7	MITF, PAX3, SOX10
2	hirschsprung disease 1	30.0	EDN3, EDNRB, RET
3	mend syndrome	12.3
4	pcwh syndrome	11.7
5	waardenburg syndrome, type 4a	11.5
6	waardenburg syndrome type 4	11.5
7	waardenburg syndrome, type 4b	11.1
8	waardenburg syndrome, type 4c	11.1
9	waardenburg syndrome/ocular albinism, digenic	10.4	MITF, TYR
10	idiopathic macular telangiectasia type 1	10.4	MITF, TYR
11	wagner syndrome	10.4	EDNRB, SOX10
12	merrf syndrome	10.4	PAX3, SOX10
13	hereditary renal cell carcinoma	10.4	MITF, PAX3
14	albinism, oculocutaneous, type ib	10.4	MITF, TYR
15	pyloric stenosis, infantile hypertrophic, 3	10.4	MITF, TYR
16	melanoma, cutaneous malignant 8	10.4	MITF, TYR
17	malignant breast melanoma	10.4	MITF, TYR
18	corneal disease	10.3	MITF, TYR
19	waardenburg syndrome, type 3	10.2
20	waardenburg syndrome, type 2a	10.2
21	primary cutaneous amyloidosis	10.1	MITF, TYR
22	heterochromia iridis	10.1
23	microphthalmia	10.1
24	skin benign neoplasm	10.1	MITF, SOX10, TYR
25	connective tissue benign neoplasm	10.1	MITF, TYR
26	central hypoventilation syndrome, congenital	10.1	EDNRB, RET
27	corneal intraepithelial dyskeratosis and ectodermal dysplasia	10.1	MITF, TYR
28	total anomalous pulmonary venous return	10.1	MITF, PAX3, SNAI2
29	ocular albinism with sensorineural deafness	10.1	MITF, SNAI2, SOX10
30	glucose metabolism disease	10.0	GJB2, MITF
31	spina bifida occulta	10.0	EDNRB, RET
32	oliver-mcfarlane syndrome	10.0	FN1, RET
33	labyrinthine unilateral reactive loss	9.9	EDNRB, RET
34	lynch syndrome	9.9	EDN3, RET, SOX10
35	brachyolmia	9.9	FN1, MITF, TYR
36	anterior spinal artery syndrome	9.8	MITF, PAX3, SOX10, TYR
37	shprintzen-goldberg syndrome	9.8	EDN3, EDNRB, RET
38	afferent loop syndrome	9.8	EDN3, EDNRB, RET
39	liver leiomyosarcoma	9.7	EDNRB, RET
40	focal epithelial hyperplasia	9.5	EDN3, EDNRB, RET, SOX10
41	anal spasm	9.5	EDN3, EDNRB, RET, SOX10
42	autosomal recessive disease	9.5	GJB2, PAX3, RET
43	familial abdominal aortic aneurysm	9.4	FN1, RET
44	diabetes mellitus, noninsulin-dependent, 5	9.2	EDN3, EDNRB, MITF, RET, SOX10
45	conjunctival intraepithelial neoplasm	9.0	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
46	chronic infections, due to mbl deficiency	8.9	EDN3, EDNRB, MITF, PAX3, RET, SOX10
47	nasopharynx carcinoma	6.7	EDN3, EDNRB, FN1, GJB2, MITF, PAX3

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

Symptoms for Waardenburg's Syndrome

Sources:
⁶¹The Human Phenotype Ontology, ⁵¹Orphanet, ⁶⁵UMLS
See all MalaCards sources

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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶Cochrane Library, ⁶⁵UMLS, ⁴³NDF-RT
See all MalaCards sources

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit	Recruiting	NCT02418936

Search NIH Clinical Center for Waardenburg's Syndrome

Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg's Syndrome

Anatomical Context for Waardenburg's Syndrome

Sources:
³³MalaCards
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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

Sources:
³⁸MGI
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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

³⁸ (show all 22)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	8.5	EDNRB, GJB2, MITF, PAX3
2	no phenotypic analysis	MP:0003012	8.3	GJB2, MITF, PAX3, RET, TYR
3	tumorigenesis	MP:0002006	8.2	EDNRB, FN1, PAX3, RET, SOX10, TYR
4	digestive/alimentary	MP:0005381	8.2	EDN3, EDNRB, PAX3, RET, SNAI2, SOX10
5	pigmentation	MP:0001186	8.2	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
6	vision/eye	MP:0005391	8.0	EDNRB, GJB2, MITF, PAX3, SNAI2, TYR
7	endocrine/exocrine gland	MP:0005379	7.9	EDNRB, MITF, PAX3, RET, SNAI2, SOX10
8	craniofacial	MP:0005382	7.8	EDNRB, FN1, GJB2, MITF, PAX3, SNAI2
9	reproductive system	MP:0005389	7.6	FN1, GJB2, MITF, RET, SNAI2, TYR
10	normal	MP:0002873	7.5	FN1, GJB2, MITF, PAX3, RET, SOX10
11	behavior/neurological	MP:0005386	7.5	EDN3, EDNRB, MITF, PAX3, RET, SNAI2
12	skeleton	MP:0005390	7.1	EDNRB, FN1, GJB2, MITF, PAX3, SNAI2
13	limbs/digits/tail	MP:0005371	7.1	EDNRB, FN1, GJB2, MITF, PAX3, RET
14	cellular	MP:0005384	6.9	EDNRB, FN1, GJB2, MITF, PAX3, RET
15	integument	MP:0010771	6.8	EDN3, EDNRB, FN1, GJB2, MITF, PAX3
16	cardiovascular system	MP:0005385	6.8	EDNRB, FN1, GJB2, PAX3, RET, SNAI2
17	homeostasis/metabolism	MP:0005376	6.3	EDNRB, FN1, GJB2, MITF, PAX3, RET
18	embryo	MP:0005380	6.3	EDN3, EDNRB, FN1, GJB2, MITF, PAX3
19	immune system	MP:0005387	6.2	EDNRB, FN1, GJB2, MITF, PAX3, RET
20	growth/size/body region	MP:0005378	6.2	EDNRB, FN1, GJB2, MITF, PAX3, RET
21	nervous system	MP:0003631	6.1	EDN3, EDNRB, FN1, GJB2, MITF, PAX3
22	mortality/aging	MP:0010768	5.9	EDN3, EDNRB, FN1, GJB2, MITF, PAX3

Publications for Waardenburg's Syndrome

Sources:
⁵⁴PubMed
See all MalaCards sources

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 98)

id	Title	Authors	Year
1	50 Years Ago in The Journal of Pediatrics: Waardenburg's Syndrome: The Risk of Recurrence of Congenital Deafness in a Kindred. (26319917)	Long S.S.	2015
2	Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. (25933462)	Ishaq M.... Nadeem Y.	2015
3	Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. (25565054)	Wong D.K.... Douglas R.	2014
4	Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)	Ahmed A.O.... Abubakar A.	2010
5	Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)	Gupta V.... Aggarwal H.C.	2000
6	Waardenburg's syndrome a rare entity. (23119554)	Chattopadhyay R.... Mehta A.K.	1999
7	Partial anodontia in a case of Waardenburg's syndrome. (10605569)	Bandyopadhyay S.... Singhania P.K.	1999
8	Atypical presentation of Waardenburg's syndrome type II. (10229606)	Knox G.... Lopes A.M.	1999
9	Waardenburg's syndrome and pituitary tumor. (7887168)	Kimura H.... Kashii S.	1994
10	An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)	Baldwin C.T.... Milunsky A.	1992
11	An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)	Jacobs J.M.... Wilson J.	1992
12	Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)	HolmstrAPm H.... Santanelli F.	1991
13	Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)	Newton V.	1990
14	Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)	Cantani A.... Tacconi M.L.	1989
15	Genetic heterogeneity in Waardenburg's syndrome. (2738907)	Kulkarni M.L.... Panchakshariah M.S.	1989
16	The eyes have it: Waardenburg's syndrome. (3468364)	Enright K.A.... Neelon F.A.	1986
17	Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)	Nork T.M.... Price J.	1986
18	Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)	Mallory S.B.... Nordlund J.J.	1986
19	Temporal bone involvement in Waardenburg's syndrome. (4042918)	Galich R.	1985
20	Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)	Rarey K.E.... Davis L.E.	1984
21	Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)	Schweitzer V.G.... Clack T.D.	1984
22	Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)	Super M.	1981
23	Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)	Parving A.... Mogensen C.	1981
24	Waardenburg's syndrome. (7203595)	Joseph T.A.... Chakravarthy K.S.	1980
25	Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)	Fried K.... Beer S.	1980
26	A possible animal model for Waardenburg's syndrome. (468455)	Faith R.E.	1979
27	Waardenburg's syndrome. (519746)	Yalaburgi S.B.... Mistry P.K.	1979
28	Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)	Hageman M.J.	1977
29	Waardenburg's syndrome in a girl. (1150316)	Magotra M.L.... Anand V.R.	1975
30	The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)	Amer M.... El-Shazly M.	1974
31	Waardenburg's syndrome. Identification of patients. (4726720)	Greenwood R.D.	1973
32	Waardenburg's syndrome in two siblings and their parents. (5144909)	David T.J.	1971
33	Waardenburg's syndrome in an African child. (5444872)	Bwibo N.O.... Mkono M.D.	1970
34	Waardenburg's syndrome. (5801408)	Mahajan C.M.... Mehta S.	1969
35	Hypertelorism and Waardenburg's syndrome. (5801819)	Ulivelli A.... Silenzi M.	1969
36	A Chinese family with Waardenburg's syndrome. (4966266)	Chew K.L.... Tan K.H.	1968
37	Vestibular function and additional findings in Waardenburg's syndrome. (4870323)	Marcus R.E.	1968
38	Waardenburg's syndrome. (5658623)	Fanaroff A.A.... Levin S.E.	1968
39	Waardenburg's Syndrome in an Indian family. (5589484)	Pandit M.M.... Rao P.T.	1967
40	Waardenburg's syndrome. Report of a family. (6060805)	Cant J.S.... Martin A.J.	1967
41	Waardenburg's syndrome with fundus and other anomalies. (4958935)	Goldberg M.F.	1966
42	WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE. (14269024)	HANSEN A.C.... CRUMP E.P.	1965
43	WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED. (14339408)	ROBINSON G.C.... SOEPARDEN L.I.	1965
44	WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY. (14299408)	RUGEL S.J.... KEATES E.U.	1965
45	WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)	HOUGHTON N.I.	1964
46	Waardenburg's syndrome in father and daughter. (13984948)	THORKILGAARD O.	1962
47	Waardenburg's syndrome. (13947542)	Ghosh S.	1962
48	WAARDENBURG'S SYNDROME. (18170706)	Ray D.K.	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)	DIGEORGE A.M.... HARLEY R.D.	1960
50	An English family with Waardenburg's syndrome. (13650669)	Partington M.W.	1959

Genes related to Waardenburg's Syndrome

Sources:
²⁰GeneCards, ¹²DISEASES, ⁴⁷Novoseek
See all MalaCards sources

Genes related to Waardenburg's Syndrome:

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	PAX3	Paired Box 3	88.19	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Gene name, Summaries, Variants (show sections)	7897628, 9302254, 10982026 more 10521655, 7981674, 8490648, 8845842, 9584079, 9973247, 1347148, 8220430, 9021013, 16280008, 10536986, 8786127, 7909605, 8098985, 16354937, 14556253, 9731536, 9654197, 11683776, 12949970, 8664898, 1303193, 18627422, 17149730, 8630497, 7825605, 8228963, 18704124, 16945326, 19199574, 16971891, 12668617, 11244500, 11041370, 9482647, 9452070, 8449034, 9067759, 9500554, 11375778, 1670751, 7902163, 8162027, 7783169
2	MITF	Microphthalmia-Associated Transcription Factor	85.81	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Gene name, Summaries, Variants (show sections)	8880147, 9499424, 8782819 more 10536986, 10982026, 9170159, 10536982, 18424413, 10790403, 11174389, 12944398, 12048204, 11478782, 12871913, 12753399, 8630497, 18229597, 12668617, 11041370, 18595666, 15715979, 16280008, 10841026, 8659547, 10952390, 7874168, 9856573, 9546825
3	EDN3	Endothelin 3	70.25	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	8630503, 9359047, 9035203
4	SOX10	SRY-Box 10	63.66	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Variants (show sections)	16504559, 10982026, 18348267 more 17855451, 18627047, 10762540, 17999358, 12944398, 18397875, 12668617, 10938265
5	EDNRB	Endothelin Receptor Type B	58.81	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Variants (show sections)	11484199, 9035423, 9035203
6	TYR	Tyrosinase	43.86	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Publications, Proteins (show sections)	9830058
7	SNAI2	Snail Family Zinc Finger 2	34.88	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders (show sections)	16717446
8	RET	Ret Proto-Oncogene	32.56	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	7643365
9	GJB2	Gap Junction Protein Beta 2	30.71	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	19239084
10	FN1	Fibronectin 1	26.77	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	2246770, 8449034

Variations for Waardenburg's Syndrome

Sources:
⁵Clinvar
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Clinvar genetic disease variations for Waardenburg's Syndrome:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1		NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)	single nucleotide variant	Pathogenic, risk factor	rs104894387	GRCh37	Chr 13, 78475316: 78475316

Expression for genes affiliated with Waardenburg's Syndrome

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Waardenburg's Syndrome

Sources:
⁵²PathCards, ³⁹NCBI BioSystems Database, ⁵⁵QIAGEN, ³¹KEGG, ⁵⁶R&D Systems
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Regulation of retinoblastoma protein³⁹	9.9	MITF, PAX3
2	Endothelins³⁹	9.7	EDN3, EDNRB
3	Melanocyte Development and Pigmentation⁵⁵	9.5	MITF, PAX3, SOX10
4	Basal cell carcinoma³¹ Show member pathways Melanogenesis³¹ Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways⁵⁶ Hedgehog signaling pathway³¹	9.3	EDNRB, MITF, TYR
5	Neural Crest Differentiation³⁹	9.0	MITF, PAX3, SNAI2, SOX10
6	Pathways in cancer³¹	8.6	EDNRB, FN1, MITF, RET

GO Terms for genes affiliated with Waardenburg's Syndrome

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	vein smooth muscle contraction	GO:0014826	10.4	EDN3, EDNRB
2	vasoconstriction	GO:0042310	10.2	EDN3, EDNRB
3	posterior midgut development	GO:0007497	10.1	EDNRB, RET
4	pigmentation	GO:0043473	9.8	EDNRB, SNAI2
5	neural crest cell migration	GO:0001755	9.4	EDN3, EDNRB, RET
6	positive regulation of transcription, DNA-templated	GO:0045893	8.9	MITF, PAX3, RET, SOX10
7	sensory perception of sound	GO:0007605	8.8	GJB2, PAX3, SNAI2