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Waardenburg syndrome type 2

MedGen UID:
398443
Concept ID:
C2700265
Disease or Syndrome
Synonyms: Waardenburg Syndrome Type II; WS type 2
SNOMED CT: Waardenburg syndrome type 2 (1010636000)
 
Related genes: SOX10, SNAI2, MITF
 
Monarch Initiative: MONDO:0019517
Orphanet: ORPHA895

Definition

An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Waardenburg syndrome type 2 in Orphanet.

Professional guidelines

PubMed

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss.; Professional Practice and Guidelines Committee.
Genet Med 2014 Apr;16(4):347-55. Epub 2014 Mar 20 doi: 10.1038/gim.2014.2. PMID: 24651602

Recent clinical studies

Etiology

Chen S, Jin Y, Xie L, Xie W, Xu K, Qiu Y, Bai X, Zhang HM, Liu XZ, Wang XH, Kong WJ, Sun Y
Neural Plast 2020;2020:9260807. Epub 2020 Aug 28 doi: 10.1155/2020/9260807. PMID: 32908492Free PMC Article
Chen D, Li S, Li S, Song X, Guo L, Zhang X, Sun C, Zhao S
Int J Pediatr Otorhinolaryngol 2020 Sep;136:110172. Epub 2020 Jun 11 doi: 10.1016/j.ijporl.2020.110172. PMID: 32580110
Alehabib E, Alinaghi S, Pourfatemi F, Darvish H
Int J Pediatr Otorhinolaryngol 2020 Aug;135:110014. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110014. PMID: 32422366
Choi JH, Moon SK, Lee KH, Lew HM, Chang YH
Korean J Ophthalmol 2004 Dec;18(2):185-9. doi: 10.3341/kjo.2004.18.2.185. PMID: 15635834
Hughes AE, Newton VE, Liu XZ, Read AP
Nat Genet 1994 Aug;7(4):509-12. doi: 10.1038/ng0894-509. PMID: 7951321

Diagnosis

Liu XW, Wang SY, Xing ZK, Zhu YM, Ding WJ, Duan L, Cui X, Xu BC, Li SJ, Guo YF
J Int Med Res 2020 Nov;48(11):300060520967540. doi: 10.1177/0300060520967540. PMID: 33251892Free PMC Article
Rosa Júnior M, Santana LM, Ramos BF, Ramos HF
Neurology 2019 Apr 16;92(16):e1935-e1936. doi: 10.1212/WNL.0000000000007318. PMID: 30988093
Şuhani RD, Şuhani MF, Muntean A, Mesaroş MF, Badea ME
Rom J Morphol Embryol 2015;56(2 Suppl):879-83. PMID: 26429191
Siomou E, Manolakos E, Petersen M, Thomaidis L, Gyftodimou Y, Orru S, Papoulidis I
Eur J Med Genet 2012 Nov;55(11):641-5. Epub 2012 Jul 25 doi: 10.1016/j.ejmg.2012.07.002. PMID: 22842075
Otman SG, Abdelhamid NI
Indian J Dermatol Venereol Leprol 2005 Nov-Dec;71(6):426-7. doi: 10.4103/0378-6323.18951. PMID: 16394488

Therapy

Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A
Am J Med Genet A 2018 Sep;176(9):1968-1971. Epub 2018 Aug 16 doi: 10.1002/ajmg.a.40362. PMID: 30113773

Prognosis

Chen K, Wang H, Lai Y
Front Endocrinol (Lausanne) 2020;11:592831. Epub 2021 Feb 1 doi: 10.3389/fendo.2020.592831. PMID: 33597923Free PMC Article
Ren S, Chen X, Kong X, Chen Y, Wu Q, Jiao Z, Shi H
Mol Genet Genomic Med 2020 Mar;8(3):e1128. Epub 2020 Jan 20 doi: 10.1002/mgg3.1128. PMID: 31960627Free PMC Article
Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics., van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H
Am J Hum Genet 2015 Nov 5;97(5):647-60. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.09.011. PMID: 26522471Free PMC Article
Şuhani RD, Şuhani MF, Muntean A, Mesaroş MF, Badea ME
Rom J Morphol Embryol 2015;56(2 Suppl):879-83. PMID: 26429191
Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT
Genet Anal 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. PMID: 8880147

Clinical prediction guides

Yang S, Wang C, Zhou C, Kang D, Zhang X, Yuan H
Mol Genet Genomic Med 2020 Dec;8(12):e1520. Epub 2020 Oct 12 doi: 10.1002/mgg3.1520. PMID: 33045145Free PMC Article
Wang XP, Liu YL, Mei LY, He CF, Niu ZJ, Sun J, Zhao YL, Feng Y, Zhang H
J Hum Genet 2018 May;63(5):639-646. Epub 2018 Mar 12 doi: 10.1038/s10038-018-0425-z. PMID: 29531335Free PMC Article
Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M
Jpn J Ophthalmol 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9. PMID: 12586183
Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT
Genet Anal 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. PMID: 8880147
Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA, Aaronson SA, Miki T
Nat Genet 1996 Sep;14(1):50-4. doi: 10.1038/ng0996-50. PMID: 8782819

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