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Hearing loss, autosomal dominant 76(DFNA76)

MedGen UID:
1710038
Concept ID:
C5394080
Disease or Syndrome
Synonym: Deafness, autosomal dominant 76
 
Gene (location): PLS1 (3q23)
 
Monarch Initiative: MONDO:0032917
OMIM®: 618787

Definition

Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients (Schrauwen et al., 2019; Morgan et al., 2019; Diaz-Horta et al., 2019). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.

Recent clinical studies

Etiology

Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
Tekin M, Arici ZS
Am J Med Genet A 2007 Jul 15;143A(14):1583-91. doi: 10.1002/ajmg.a.31702. PMID: 17444514

Diagnosis

Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK
Genes Genomics 2023 Feb;45(2):225-230. Epub 2023 Jan 11 doi: 10.1007/s13258-022-01357-3. PMID: 36630074
Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H
J Hum Genet 2018 Mar;63(3):281-287. Epub 2018 Jan 10 doi: 10.1038/s10038-017-0388-5. PMID: 29321516
Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M
Acta Ophthalmol 2017 Jun;95(4):363-369. Epub 2016 Nov 17 doi: 10.1111/aos.13285. PMID: 27860320
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
Pedersen U
Scand Audiol 1984;13(2):67-74. doi: 10.3109/01050398409043042. PMID: 6463554

Therapy

Mundra V, Taxel P
Conn Med 2012 Jan;76(1):33-7. PMID: 22372177

Prognosis

Pochet JM, Bobrie G, Landais P, Goldfarb B, Grünfeld JP
Nephrol Dial Transplant 1989;4(12):1016-21. PMID: 2517321

Clinical prediction guides

Yıldırım R, Unal E, Özalkak Ş, Akalın A, Aykut A, Yılmaz N
J Clin Res Pediatr Endocrinol 2024 Mar 11;16(1):76-83. Epub 2023 Oct 17 doi: 10.4274/jcrpe.galenos.2023.2023-5-16. PMID: 37847107Free PMC Article
Huang AE, Adkins WJ, Patel NS
Otol Neurotol 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. PMID: 31834875
Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H
J Hum Genet 2018 Mar;63(3):281-287. Epub 2018 Jan 10 doi: 10.1038/s10038-017-0388-5. PMID: 29321516
Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M
Acta Ophthalmol 2017 Jun;95(4):363-369. Epub 2016 Nov 17 doi: 10.1111/aos.13285. PMID: 27860320
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103

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