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Autosomal recessive nonsyndromic hearing loss 77(DFNB77)

MedGen UID:
412541
Concept ID:
C2746083
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 77; DFNB77 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): LOXHD1 (18q21.1)
 
Monarch Initiative: MONDO:0013119
OMIM®: 613079

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. [from MONDO]

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Prognosis

Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article

Clinical prediction guides

Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S
Hum Genet 2005 Apr;116(5):407-12. Epub 2005 Feb 12 doi: 10.1007/s00439-004-1247-y. PMID: 15711797
Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM
Eur J Hum Genet 2003 Jan;11(1):77-80. doi: 10.1038/sj.ejhg.5200905. PMID: 12529709Free PMC Article

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