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Nonsyndromic genetic hearing loss

MedGen UID:
1830101
Concept ID:
C5680182
Disease or Syndrome
Synonyms: Non-syndromic genetic deafness; Nonsyndromic genetic deafness; Nonsyndromic hearing loss and deafness
SNOMED CT: Non-syndromic genetic deafness (1260199008); Non-syndromic genetic hearing loss (1260199008); Isolated genetic hearing loss (1260199008); Isolated genetic deafness (1260199008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: PJVK, CISD2, MIR96, GRXCR1, SLC26A5, PTPRQ, ILDR1, TPRN, TMIE, MSRB3, SLC17A8, LHFPL5, LRTOMT, STRC, MARVELD2, CCDC50, OTOA, GIPC3, LOXHD1, TMC1, ESPN, GRHL2, MYH14, PCDH15, TMPRSS3, CDH23, DIABLO, MYO3A, DCDC2, MYO15A, GPSM2, WHRN, CLDN14, P2RX2, TRIOBP, GJB6, CIB2, USH1C, RIPOR2, OTOF, S1PR2, KCNQ4, CDC14A, CLPP, WFS1, TECTA, SIX1, REST, RDX, POU4F3, POU3F4, SERPINB6, SLC26A4, MYO7A, MYO6, MYH9, TRNS1, RNR1, COX1, LMX1A, KCNJ10, KARS1, HGF, GJB3, GJB2, GAB1, FOXI1, ESRRB, EYA4, DIAPH1, COCH, GSDME, COL11A2, ATP2B2, ADCY1, ACTG1
 
Monarch Initiative: MONDO:0019497
Orphanet: ORPHA87884

Definition

Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. The majority of cases presenting at birth concern perceptive deafness (with a neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear and the outer ear). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Bi Q, Huang S, Wang H, Gao X, Ma M, Han M, Lu S, Kang D, Nourbakhsh A, Yan D, Blanton S, Liu X, Yuan Y, Yao Y, Dai P
J Assist Reprod Genet 2023 Jul;40(7):1721-1732. Epub 2023 Apr 5 doi: 10.1007/s10815-023-02753-8. PMID: 37017887Free PMC Article
Funamura JL
Curr Opin Otolaryngol Head Neck Surg 2017 Oct;25(5):385-389. doi: 10.1097/MOO.0000000000000398. PMID: 28682819
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH
Hum Genet 2016 Apr;135(4):441-450. Epub 2016 Mar 11 doi: 10.1007/s00439-016-1648-8. PMID: 26969326Free PMC Article

Curated

UK NICE Guideline (NG98), Hearing loss in adults: assessment and management, 2023

Recent clinical studies

Etiology

King PJ, Ouyang X, Du L, Yan D, Angeli SI, Liu XZ
Otolaryngol Head Neck Surg 2012 Nov;147(5):932-6. Epub 2012 Jul 11 doi: 10.1177/0194599812453553. PMID: 22785241Free PMC Article
Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T, Ramsay M, Penn C, Liu XZ
Int J Pediatr Otorhinolaryngol 2011 May;75(5):611-7. Epub 2011 Mar 9 doi: 10.1016/j.ijporl.2011.01.029. PMID: 21392827Free PMC Article
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

King PJ, Ouyang X, Du L, Yan D, Angeli SI, Liu XZ
Otolaryngol Head Neck Surg 2012 Nov;147(5):932-6. Epub 2012 Jul 11 doi: 10.1177/0194599812453553. PMID: 22785241Free PMC Article
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Prognosis

Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T, Ramsay M, Penn C, Liu XZ
Int J Pediatr Otorhinolaryngol 2011 May;75(5):611-7. Epub 2011 Mar 9 doi: 10.1016/j.ijporl.2011.01.029. PMID: 21392827Free PMC Article

Clinical prediction guides

Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T, Ramsay M, Penn C, Liu XZ
Int J Pediatr Otorhinolaryngol 2011 May;75(5):611-7. Epub 2011 Mar 9 doi: 10.1016/j.ijporl.2011.01.029. PMID: 21392827Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Guideline (NG98), Hearing loss in adults: assessment and management, 2023

    Consumer resources

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