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

Aliases & Classifications for Waardenburg's Syndrome

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:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Albinism

Orphanet: ⁵⁴

Rare eye diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology¹¹ DOID:9258

MeSH³⁹ D014849

NCIt⁴⁵ C75008, C85222

Orphanet⁵⁴ ORPHA3440

SNOMED-CT⁶² 47434006

ICD10 via Orphanet³¹ E70.3

UMLS via Orphanet⁶⁹ C0043008

MESH via Orphanet⁴⁰ D014849

UMLS⁶⁸ C0079661, C1847800, C3266898

Summaries for Waardenburg's Syndrome

Sources:
¹¹Disease Ontology, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁷¹Wikipedia
See all MalaCards sources

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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 43)

id	Related Disease	Score	Top Affiliating Genes
1	waardenburg syndrome, type 4a	32.8	EDNRB, RET
2	waardenburg syndrome, type 3	31.6	ALPP, EDN3, MITF, PAX3, SOX10
3	mend syndrome	12.2
4	pcwh syndrome	11.8
5	waardenburg syndrome type 4	11.6
6	waardenburg syndrome, type 1	11.0
7	waardenburg syndrome, type 2a	11.0
8	hirschsprung disease 1	11.0
9	waardenburg syndrome, type 4b	11.0
10	waardenburg syndrome, type 4c	11.0
11	epiphyseal dysplasia, multiple, 3	10.3	EDN3, EDNRB
12	deafness, mitochondrial, modifier of	10.3	EDNRB, SOX10
13	melanoma, cutaneous malignant 8	10.3	MITF, TYR
14	verrucous papilloma	10.3	MITF, SOX10, TYR
15	focal facial dermal dysplasia 4	10.2	PAX3, SOX10, TYR
16	apocrine adenoma	10.2	EDNRB, RET, SOX10
17	craniosynostosis 6	10.2	MITF, TYR, TYRP1
18	shprintzen-goldberg syndrome	10.2	EDN3, EDNRB, RET
19	epilepsy, progressive myoclonic 5	10.2	MITF, TYR
20	external ear basal cell carcinoma	10.2	MITF, TYR
21	wdha syndrome	10.2	EDN3, EDNRB, MITF, SOX10
22	ariboflavinosis	10.2	EDN3, EDNRB, RET
23	dihydrolipoamide dehydrogenase deficiency	10.2	GJB2, MITF, PAX3
24	skin pilomatrix carcinoma	10.2	EDN3, EDNRB, RET, SOX10
25	spinal meningioma	10.2	EDN3, EDNRB, RET, SOX10
26	waardenburg syndrome/ocular albinism, digenic	10.2	MITF, TFE3
27	collecting duct carcinoma	10.2	MITF, PAX3, TFE3
28	chronic infections, due to mbl deficiency	10.2	EDN3, EDNRB, RET
29	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	10.1	MITF, SOX10, TYR, TYRP1
30	charcot-marie-tooth neuropathy, x-linked recessive, 2	10.1	KITLG, MITF, SNAI2, SOX10
31	dentinogenesis imperfecta, shields type ii	10.1	KITLG, MITF, PAX3, SNAI2
32	ceroid lipofuscinosis, neuronal, 5	10.1	EDN3, EDNRB, MITF, RET, SOX10
33	spondyloarthropathy 3	10.1	KIR2DS4, PAX3
34	intracranial embolism	10.1	MITF, TYR
35	epidermolysis bullosa simplex, recessive 1	10.1	KITLG, MITF, TYR, TYRP1
36	nail disorder, nonsyndromic congenital, 7	10.1	KITLG, MITF, TYR, TYRP1
37	cervical adenofibroma	10.0	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
38	tooth agenesis, selective, 5	10.0	EDN3, EDNRB, MITF, PAX3, RET, SOX10
39	microphthalmia	10.0
40	x-linked nonsyndromic deafness	10.0	GJB2, KITLG, MITF, PAX3
41	aicardi-goutieres syndrome 6	10.0	EDN3, MITF, PAX3, SOX10, TYR, TYRP1
42	cystinosis	9.9	MITF, PAX6, TFE3, TYR, TYRP1
43	myopathy of extraocular muscle	7.9	AEBP2, ALPP, EDN3, EDNRB, FN1, GJB2

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

Symptoms & Phenotypes for Waardenburg's Syndrome

Sources:
⁴¹MGI, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Human phenotypes related to Waardenburg's Syndrome:

⁵⁴ ⁶⁴ (show all 30)

id	Description	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)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.0	EDNRB, GJB2, KITLG, MITF, PAX3, PAX6
2	neoplasm	MP:0002006	8.8	EDNRB, FN1, KITLG, PAX3, PAX6, RET
3	reproductive system	MP:0005389	8.1	FN1, GJB2, KITLG, MITF, PAX1, PAX6
4	vision/eye	MP:0005391	8.1	EDNRB, GJB2, KITLG, MITF, PAX3, PAX6
5	homeostasis/metabolism	MP:0005376	7.9	EDNRB, FN1, GJB2, KITLG, MITF, PAX3
6	cardiovascular system	MP:0005385	7.8	EDNRB, FN1, GJB2, KITLG, PAX1, PAX3
7	endocrine/exocrine gland	MP:0005379	7.8	EDNRB, KITLG, MITF, PAX1, PAX3, PAX6
8	cellular	MP:0005384	7.8	EDNRB, FN1, GJB2, KITLG, MITF, PAX1
9	normal	MP:0002873	7.8	FN1, GJB2, MITF, PAX1, PAX3, PAX6
10	digestive/alimentary	MP:0005381	7.8	AEBP2, EDN3, EDNRB, KITLG, PAX3, PAX6
11	craniofacial	MP:0005382	7.6	EDNRB, FN1, GJB2, KITLG, MITF, PAX1
12	embryo	MP:0005380	7.6	EDN3, EDNRB, FN1, GJB2, KITLG, MITF
13	limbs/digits/tail	MP:0005371	7.4	AEBP2, EDNRB, FN1, GJB2, KITLG, MITF
14	skeleton	MP:0005390	7.3	EDNRB, FN1, GJB2, KITLG, MITF, PAX1
15	behavior/neurological	MP:0005386	7.3	AEBP2, EDN3, EDNRB, MITF, PAX1, PAX3
16	immune system	MP:0005387	7.2	EDNRB, FN1, GJB2, KITLG, MITF, PAX1
17	nervous system	MP:0003631	6.9	EDN3, EDNRB, FN1, GJB2, KITLG, MITF
18	pigmentation	MP:0001186	6.8	AEBP2, EDN3, EDNRB, KITLG, MITF, PAX1
19	growth/size/body region	MP:0005378	5.9	AEBP2, EDNRB, FN1, GJB2, KITLG, MITF
20	mortality/aging	MP:0010768	5.8	AEBP2, EDN3, EDNRB, FN1, GJB2, KITLG
21	integument	MP:0010771	5.5	AEBP2, EDN3, EDNRB, FN1, GJB2, KITLG

Drugs & Therapeutics for Waardenburg's Syndrome

Sources:
⁴ClinicalTrials, ⁷Cochrane Library, ⁴⁶NDF-RT, ⁶⁸UMLS
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

Sources:
²⁷GTR
See all MalaCards sources

Genetic tests related to Waardenburg's Syndrome:

id	Genetic test	Affiliating Genes
1	Waardenburg Syndrome²⁷

Anatomical Context for Waardenburg's Syndrome

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Waardenburg's Syndrome:

³⁶

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

Publications for Waardenburg's Syndrome

Sources:
⁵⁷PubMed
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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. (21970256)	Ahmed A.O.... Abubakar A.	2011
5	Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)	Ahmed A.O.... Abubakar A.	2010
6	Cochlear implantation in Waardenburg's syndrome. (16012032)	Migirov L.... Kronenberg J.	2005
7	Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. (15200507)	Shim S.H.... Milunsky A.	2004
8	Auditory neuropathy in siblings with Waardenburg's syndrome. (14550970)	Jutras B.... Chapdelaine M.	2003
9	Temporal bone imaging findings in Waardenburg's syndrome. (11335009)	Oysu C.... Tinaz M.	2001
10	Otopathology in a case of type I Waardenburg's syndrome. (11558766)	Merchant S.N.... Nadol J.B.	2001
11	Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. (10755116)	Rundle P.... Peairs R.	2000
12	Audiometric manifestations of Waardenburg's syndrome. (11011489)	Oysu C.... Tinaz M.	2000
13	Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)	Gupta V.... Aggarwal H.C.	2000
14	Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? (10190061)	Dourmishev A.L.... Janniger C.K.	1999
15	Partial anodontia in a case of Waardenburg's syndrome. (10605569)	Bandyopadhyay S.... Singhania P.K.	1999
16	Atypical presentation of Waardenburg's syndrome type II. (10229606)	Knox G.... Lopes A.M.	1999
17	Waardenburg's syndrome a rare entity. (23119554)	Chattopadhyay R.... Mehta A.K.	1999
18	Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome. (9078934)	Liu X.Z.... Newton V.E.	1997
19	Waardenburg's syndrome. (20952962)	Yesudian D.P.... Yesudian P.	1995
20	Waardenburg's syndrome and pituitary tumor. (7887168)	Kimura H.... Kashii S.	1994
21	Waardenburg's syndrome. (7941767)	Parsons G.... Mokela D.	1993
22	An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)	Baldwin C.T.... Milunsky A.	1992
23	Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. (1573954)	Nakashima S.... Hashida Y.	1992
24	An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)	Jacobs J.M.... Wilson J.	1992
25	Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (1347148)	Tassabehji M.... Strachan T.	1992
26	Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)	HolmstrAPm H.... Santanelli F.	1991
27	Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)	Newton V.	1990
28	Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. (2609099)	Newton V.E.	1989
29	Genetic heterogeneity in Waardenburg's syndrome. (2738907)	Kulkarni M.L.... Panchakshariah M.S.	1989
30	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
31	Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)	Ortonne J.P.	1988
32	The eyes have it: Waardenburg's syndrome. (3468364)	Enright K.A.... Neelon F.A.	1986
33	Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)	Nork T.M.... Price J.	1986
34	Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)	Mallory S.B.... Nordlund J.J.	1986
35	Waardenburg's syndrome associated with ostium secundum atrial septal defect. (3795215)	Banerjee A.K.	1986
36	Temporal bone involvement in Waardenburg's syndrome. (4042918)	Galich R.	1985
37	Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)	Rarey K.E.... Davis L.E.	1984
38	Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)	Schweitzer V.G.... Clack T.D.	1984
39	Waardenburg's syndrome associated with total aganglionosis. (6651333)	Farndon P.A.... Bianchi A.	1983
40	Waardenburg's memorial lecture: Waardenburg's syndrome. (6749731)	FranAsois J.	1982
41	Waardenburg's syndrome: variations in expressivity. (6793979)	Wang L.... Pashayan H.	1981
42	Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)	Parving A.... Mogensen C.	1981
43	Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)	Super M.	1981
44	Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)	Fried K.... Beer S.	1980
45	Waardenburg's syndrome. (6970403)	HybA!sek I.	1980
46	Waardenburg's syndrome. (7203595)	Joseph T.A.... Chakravarthy K.S.	1980
47	Waardenburg's syndrome. (7401140)	Arias S.	1980
48	Waardenburg's syndrome. (519746)	Yalaburgi S.B.... Mistry P.K.	1979
49	A possible animal model for Waardenburg's syndrome. (468455)	Faith R.E.	1979
50	Waardenburg's syndrome: case reports in two Nigerians. (458527)	Amoni S.S.... Abdurrahman M.B.	1979

Genes related to Waardenburg's Syndrome

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ⁵⁰Novoseek
See all MalaCards sources

Genes related to Waardenburg's Syndrome (4 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	PAX3	Paired Box 3	487.98	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ 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	Melanogenesis Associated Transcription Factor	486.17	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ 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	EDNRB	Endothelin Receptor Type B	485.00	Pathogenic ⁵ Risk factor ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Variants (show sections)	11484199, 9035423, 9035203
4	SOX10	SRY-Box 10	463.59	Pathogenic ⁵ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Variants (show sections)	16504559, 10982026, 18348267 more 17855451, 18627047, 10762540, 17999358, 12944398, 18397875, 12668617, 10938265
5	EDN3	Endothelin 3	71.13	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	8630503, 9359047, 9035203
6	TYR	Tyrosinase	55.21	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Proteins (show sections)	9830058
7	SNAI2	Snail Family Transcriptional Repressor 2	45.41	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	16717446
8	RET	Ret Proto-Oncogene	43.07	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	7643365
9	TYRP1	Tyrosinase Related Protein 1	41.94	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	16280008
10	GJB2	Gap Junction Protein Beta 2	40.76	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	19239084
11	FN1	Fibronectin 1	38.06	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	2246770, 8449034
12	PAX6	Paired Box 6	34.06	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
13	KITLG	KIT Ligand	33.33	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
14	WS2B	Waardenburg Syndrome, Type 2B	30.16	GeneCards inferred via : Disorders, Publications, Gene name (show sections)
15	KIR2DS4	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 4	29.07	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	9297966, 8735950, 7712527 more 8664898
16	ALPP	Alkaline Phosphatase, Placental	27.73	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders (show sections)	8449034
17	PAX1	Paired Box 1	24.31	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
18	TFE3	Transcription Factor Binding To IGHM Enhancer 3	23.28	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
19	WS2C	Waardenburg Syndrome, Type IIC	19.77	GeneCards inferred via : Disorders, Gene name (show sections)
20	AEBP2	AE Binding Protein 2	14.39	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
21	SRY	Sex Determining Region Y	14.31	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)

Variations for Waardenburg's Syndrome

Sources:
⁵Clinvar
See all MalaCards sources

Clinvar genetic disease variations for Waardenburg's Syndrome:

⁵ (show all 12)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EDNRB	NM_ 000115.4(EDNRB): c.169G> A (p.Gly57Ser)	SNV	risk factor	rs1801710	GRCh37	Chr 13, 78492540: 78492540
2	SOX10	NM_ 006941.3(SOX10): c.401T> C (p.Leu134Pro)	SNV	Likely pathogenic	rs876657660	GRCh37	Chr 22, 38379391: 38379391
3	EDNRB	NM_ 000115.4(EDNRB): c.618G> A (p.Trp206Ter)	SNV	Pathogenic	rs876657688	GRCh37	Chr 13, 78477474: 78477474
4	MITF	NM_ 198159.2(MITF): c.(?_ 355)-1203_ *(78_ ?)del	deletion	Pathogenic		GRCh38	Chr 3, 69936619: 69965326
5	MITF	NM_ 198159.2(MITF): c.(?_ 938)-102_ *(78_ ?)del	deletion	Pathogenic		GRCh38	Chr 3, 69956353: 69965326
6	MITF	NM_ 000248.3(MITF): c.722G> A (p.Trp241Ter)	SNV	Pathogenic	rs876657698	GRCh37	Chr 3, 70008435: 70008435
7	MITF	NM_ 000248.3(MITF): c.808C> T (p.Arg270Ter)	SNV	Pathogenic	rs876657699	GRCh37	Chr 3, 70008521: 70008521
8	MITF	NM_ 000248.3(MITF): c.383C> G (p.Ser128Ter)	SNV	Pathogenic	rs876657700	GRCh38	Chr 3, 69941273: 69941273
9	PAX3	NM_ 001127366.2(PAX3): c.(?_ -77)_ (583_ ?)+547del	deletion	Pathogenic		GRCh37	Chr 2, 223158339: 223163411
10	PAX3	NM_ 181457.3(PAX3): c.668G> A (p.Arg223Gln)	SNV	Pathogenic	rs876657717	GRCh38	Chr 2, 222232202: 222232202
11	SOX10	NM_ 006941.3(SOX10): c.(?_ 698)_ (1401_ ?)del (p.(?))	deletion	Pathogenic		GRCh37	Chr 22, 38369502: 38370205
12	MITF	NM_ 198159.2(MITF): c.794A> G (p.Tyr265Cys)	SNV	Likely pathogenic	rs1057518765	GRCh38	Chr 3, 69949082: 69949082

Expression for genes affiliated with Waardenburg's Syndrome

Sources:
¹⁸Gene 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:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁸QIAGEN, ⁵⁹R&D Systems, ⁶⁰Reactome
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Melanin biosynthesis⁶⁰	10.0	TYR, TYRP1
2	TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition⁴²	10.0	FN1, SNAI2
3	Neural Crest Differentiation⁴²	9.7	MITF, PAX3, SNAI2, SOX10
4	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁹	9.6	ALPP, FN1, PAX3
5	Melanocyte Development and Pigmentation⁵⁸	9.6	KITLG, MITF, PAX3, SOX10
6	Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways⁵⁹ Show member pathways Melanogenesis³⁴ Basal cell carcinoma³⁴	9.3	EDNRB, KITLG, MITF, TYR, TYRP1
7	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁹	9.3	ALPP, KITLG, MITF, PAX6
8	Pathways in cancer³⁴	9.2	EDNRB, FN1, KITLG, MITF, RET

GO Terms for genes affiliated with Waardenburg's Syndrome

Sources:
¹⁹Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	melanosome membrane	GO:0033162	10.0	TYR, TYRP1

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

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	melanin biosynthetic process	GO:0042438	10.8	TYR, TYRP1
2	lacrimal gland development	GO:0032808	10.7	PAX6, SOX10
3	positive regulation of neuroblast proliferation	GO:0002052	10.7	PAX6, SOX10
4	posterior midgut development	GO:0007497	10.7	EDNRB, RET
5	response to pain	GO:0048265	10.7	EDNRB, RET
6	enteric nervous system development	GO:0048484	10.6	EDNRB, RET, SOX10
7	regulation of osteoclast differentiation	GO:0045670	10.4	MITF, TFE3
8	melanocyte differentiation	GO:0030318	10.2	EDN3, EDNRB, MITF, SOX10, TYRP1
9	pigmentation	GO:0043473	10.1	EDNRB, MITF, SNAI2, TYR, TYRP1
10	vasoconstriction	GO:0042310	10.1	EDN3, EDNRB
11	vein smooth muscle contraction	GO:0014826	10.1	EDN3, EDNRB
12	neural crest cell migration	GO:0001755	10.1	EDN3, EDNRB, KITLG, RET, SOX10
13	positive regulation of transcription, DNA-templated	GO:0045893	9.5	MITF, PAX3, PAX6, RET, SOX10, TFE3
14	positive regulation of transcription from RNA polymerase II promoter	GO:0045944	9.3	MITF, PAX1, PAX3, PAX6, SOX10, TFE3
15	transcription from RNA polymerase II promoter	GO:0006366	9.0	MITF, PAX1, PAX3, PAX6, SOX10, TFE3

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

id	Name	GO ID	Score	Top Affiliating Genes
1	HMG box domain binding	GO:0071837	10.7	PAX3, PAX6
2	transcription factor activity, sequence-specific DNA binding	GO:0003700	9.2	MITF, PAX1, PAX3, PAX6, SOX10, TFE3
3	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	9.0	MITF, PAX1, PAX6, TFE3
4	RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	8.7	AEBP2, MITF, PAX1, PAX6, SOX10, TFE3