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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

Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.

The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.

Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.

Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.

Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Ford CL, Riggs WJ, Quigley T, Keifer OP Jr, Whitton JP, Valayannopoulos V
Hum Genet 2023 Oct;142(10):1429-1449. Epub 2023 Sep 7 doi: 10.1007/s00439-023-02595-5. PMID: 37679651Free PMC Article
Fu Y, Huang S, Gao X, Han M, Wang G, Kang D, Yuan Y, Dai P
BMC Med Genomics 2022 Mar 26;15(1):71. doi: 10.1186/s12920-022-01201-3. PMID: 35346193Free PMC Article
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

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    Clinical resources

    Practice guidelines

    • 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

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