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Deafness, autosomal dominant 7(DFNA7)

MedGen UID:
318614
Concept ID:
C1832379
Disease or Syndrome
Synonyms: DFNA7
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM: 601412

Clinical features

High-frequency hearing impairment
MedGen UID:
505749
Concept ID:
CN004526
Finding
A type of `hearing impairment` (HP:0000365) affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. [Epub ahead of print] PMID: 24164807
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A
Hum Mutat 2009 Feb;30(2):E376-85. doi: 10.1002/humu.20920. PMID: 18853458
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707
Al-Gazali LI
J Trop Pediatr 1998 Jun;44(3):157-60. PMID: 9680781

Diagnosis

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. [Epub ahead of print] PMID: 24164807
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A
Eur J Med Genet 2013 Jan;56(1):7-12. Epub 2012 Oct 30 doi: 10.1016/j.ejmg.2012.10.009. [Epub ahead of print] PMID: 23123319Free PMC Article
Gomes TS, Gortner L, Dockter G, Leitner D, Thakker RV, Rohrer T
Klin Padiatr 2012 Nov;224(7):452-4. Epub 2012 Nov 30 doi: 10.1055/s-0032-1329947. PMID: 23203342
Melberg A, Dahl N, Hetta J, Valind S, Nennesmo I, Lundberg PO, Raininko R
Neurology 1999 Dec 10;53(9):2190-2. PMID: 10599806

Therapy

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. [Epub ahead of print] PMID: 24164807
Maljevic S, Wuttke TV, Lerche H
J Physiol 2008 Apr 1;586(7):1791-801. Epub 2008 Jan 31 doi: 10.1113/jphysiol.2008.150656. [Epub ahead of print] PMID: 18238816Free PMC Article
Minárik G, Ferák V, Feráková E, Ficek A, Poláková H, Kádasi L
Gen Physiol Biophys 2003 Dec;22(4):549-56. PMID: 15113126
Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A
Nephrol Dial Transplant 2001 Oct;16(10):2008-12. PMID: 11572889

Prognosis

Volk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D
Audiol Neurootol 2013;18(3):192-9. Epub 2013 Apr 26 doi: 10.1159/000350246. [Epub ahead of print] PMID: 23635807
Gaynor KU, Grigorieva IV, Allen MD, Esapa CT, Head RA, Gopinath P, Christie PT, Nesbit MA, Jones JL, Thakker RV
Horm Cancer 2013 Jun;4(3):123-39. Epub 2013 Feb 22 doi: 10.1007/s12672-013-0138-x. [Epub ahead of print] PMID: 23435732
Gomes TS, Gortner L, Dockter G, Leitner D, Thakker RV, Rohrer T
Klin Padiatr 2012 Nov;224(7):452-4. Epub 2012 Nov 30 doi: 10.1055/s-0032-1329947. PMID: 23203342
Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; Italian Registry for MYH9-releated diseases
PLoS One 2012;7(4):e35986. Epub 2012 Apr 25 doi: 10.1371/journal.pone.0035986. PMID: 22558294Free PMC Article
Pochet JM, Bobrie G, Landais P, Goldfarb B, Grünfeld JP
Nephrol Dial Transplant 1989;4(12):1016-21. PMID: 2517321

Clinical prediction guides

Gao Y, Yechikov S, Vázquez AE, Chen D, Nie L
J Cell Mol Med 2013 Jul;17(7):889-900. Epub 2013 Jun 11 doi: 10.1111/jcmm.12080. [Epub ahead of print] PMID: 23750663Free PMC Article
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Volk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D
Audiol Neurootol 2013;18(3):192-9. Epub 2013 Apr 26 doi: 10.1159/000350246. [Epub ahead of print] PMID: 23635807
Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A
J Am Soc Nephrol 2003 Jul;14(7):1794-803. PMID: 12819239
Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM
Am J Hum Genet 2000 Apr;66(4):1437-42. Epub 2000 Mar 17 doi: 10.1086/302865. [Epub ahead of print] PMID: 10739769Free PMC Article

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