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Hearing loss, autosomal dominant 81(DFNA81)

MedGen UID:
1794182
•Concept ID:
C5561972
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 81
 
Gene (location): ELMOD3 (2p11.2)
 
Monarch Initiative: MONDO:0030549
OMIM®: 619500

Definition

DFNA81 is characterized by postlingual onset of slowly progressive sensorineural hearing loss (Li et al., 2018). [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.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Recent clinical studies

Etiology

Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease.
Nakamura M, Miura K, Shirai Y, Ishizuka K, Nakamura T, Segawa O, Kunishima S, Hattori M
CEN Case Rep 2023 Nov;12(4):419-422. Epub 2023 Mar 31 doi: 10.1007/s13730-023-00786-7. PMID: 37000325Free PMC Article
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
A Systematic Review of Radiosurgery Versus Surgery for Neurofibromatosis Type 2 Vestibular Schwannomas.
Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I
World Neurosurg 2018 Jan;109:47-58. Epub 2017 Sep 4 doi: 10.1016/j.wneu.2017.08.159. PMID: 28882713
Genetic aspects of familial Ménière's disease.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747

Diagnosis

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.
Zhang C, Wang M, Xiao Y, Zhang F, Zhou Y, Li J, Zheng Q, Bai X, Wang H
Neural Plast 2016;2016:1512831. Epub 2016 Nov 24 doi: 10.1155/2016/1512831. PMID: 27999687Free PMC Article
Genetic aspects of familial Ménière's disease.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.
Bénichou OD, Laredo JD, de Vernejoul MC
Bone 2000 Jan;26(1):87-93. doi: 10.1016/s8756-3282(99)00244-6. PMID: 10617161
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Therapy

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210

Prognosis

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Severe Hajdu-Cheney syndrome with upper airway obstruction.
Crifasi PA, Patterson MC, Bonde D, Michels VV
Am J Med Genet 1997 Jun 13;70(3):261-6. PMID: 9188663

Clinical prediction guides

A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
Genetic aspects of familial Ménière's disease.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
Kumar S, Deffenbacher K, Marres HA, Cremers CW, Kimberling WJ
Am J Hum Genet 2000 May;66(5):1715-20. Epub 2000 Apr 3 doi: 10.1086/302890. PMID: 10762556Free PMC Article
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ
Cytogenet Cell Genet 1998;82(1-2):126-30. doi: 10.1159/000015086. PMID: 9763681
Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.
Kenna P, Mansergh F, Millington-Ward S, Erven A, Kumar-Singh R, Brennan R, Farrar GJ, Humphries P
Br J Ophthalmol 1997 Mar;81(3):207-13. doi: 10.1136/bjo.81.3.207. PMID: 9135384Free PMC Article

Recent systematic reviews

A Systematic Review of Radiosurgery Versus Surgery for Neurofibromatosis Type 2 Vestibular Schwannomas.
Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I
World Neurosurg 2018 Jan;109:47-58. Epub 2017 Sep 4 doi: 10.1016/j.wneu.2017.08.159. PMID: 28882713

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related information in PubMed Central Links
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