Auditory Neuropathy malady

Wikipedia: Auditory neuropathy (AN) is a variety of hearing loss in which the outer hair cells within the cochlea...⁴⁴ more...

MalaCards: Auditory Neuropathy, also known as auditory dys-synchrony, is related to hearing loss and neuropathy. An important gene associated with Auditory Neuropathy is DIAPH3 (diaphanous homolog 3 (Drosophila)). The compounds gap 27 and gap 26 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype hearing/vestibular/ear.

auditory neuropathy 7 30 43 auditory dys-synchrony 30

Diseases related to auditory neuropathy by text searches and GeneDecks gene sharing:

(show all 22)

id	Related Disease	Score	Top Affiliating Genes
1	hearing loss	27.3	DFNB59, OTOF, GJB6, GJB2, MPZ
2	neuropathy	27.2	DFNB59, PICALM, CHGA, AUNX1, MPZ, FOXN3
3	bart-pumphrey syndrome	13.0	GJB6, GJB2
4	dfnb 1 nonsyndromic hearing loss and deafness	13.0	GJB6, GJB2
5	dfna 3 nonsyndromic hearing loss and deafness	13.0	GJB6, GJB2
6	pseudoainhum	12.9	GJB6, GJB2
7	kid syndrome	12.9	GJB6, GJB2
8	nonsyndromic hearing loss and deafness	12.9	GJB6, GJB2
9	congenital cytomegalovirus	12.8	GJB2, GJB6
10	clouston syndrome	12.8	GJB6, GJB2
11	erythrokeratodermia variabilis	12.8	GJB2, GJB6
12	congenital deafness with labyrinthine aplasia, microtia, and microdontia	12.8	GJB2, GJB6
13	dfnb1	12.7	GJB2, GJB6, OTOF
14	enlarged vestibular aqueduct	12.7	GJB6, GJB2
15	palmoplantar keratosis	12.5	GJB6, GJB2
16	granular cell tumor	12.5	CHGA, MPZ
17	nonsyndromic deafness	12.4	DFNB59, OTOF, GJB6, GJB2
18	sensorineural hearing loss	12.4	GJB2, GJB6, OTOF
19	peripheral neuropathy	12.2	GJB6, GJB2, MPZ, AUNX1
20	was-related disorders	11.8	CHGA, MPZ, GJB2
21	auditory neuropathy, autosomal recessive, 1	7.7
22	optic atrophy	6.2

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to auditory neuropathy:

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MGI Mouse Phenotypes related to auditory neuropathy:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.8	GSC, GJB2, GJB6, OTOF, DFNB59

Articles related to auditory neuropathy:

(show all 22)

id	Title	Authors	Year	Affiliating Genes
1	Mutations in the OTOF Gene in Taiwanese Patients with Auditory Neuropathy. (20224275)	Chiu Y.H.... Hsu C.J.	2010	OTOF
2	Nonsense mutation in TMEM126A causing autosomal reces sive optic atrophy and auditory neuropathy. (20405026)	Meyer E.... Maher E.R.	2010	TMEM126A
3	Five new OTOF gene mutations and auditory neuropathy. (20211493)	Zadro C.... Martini A.	2010	OTOF
4	Increased activity of Diaphanous homolog 3 (DIAPH3)/d iaphanous causes hearing defects in humans with auditory neuropathy and in Dros ophila. (20624953)	Schoen C.J.... Lesperance M.M.	2010	DIAPH3
5	Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! (20230791)	Marlin S.... Denoyelle F.	2010	OTOF
6	Analyzing GRIA3 gene mutations located in AUNX1 locu s in a Chinese pedigree with auditory neuropathy (20564826)	Liu Q.... Wang Q.J.	2010	GRIA3, DFNA55
7	Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive au ditory neuropathy. (20504331)	Wang D.Y.... Wang Q.J.	2010	OTOF
8	A child with deletion (14)(q24.3q32.13) and auditory neuropathy. (18074379)	Schlade-Bartusiak K.... Cox D.W.	2008	CHGA, PICALM, GSC
9	A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. (18381613)	Rodriguez-Ballesteros M.... del Castillo I.	2008	OTOF
10	Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]. (19160860)	Xu S.... Bu X.	2008	DFNB59
11	Sequence analysis of OTOF gene in a Chinese pedigree with autosomal dominant auditory neuropathy (18035737)	Xu S.... Bu X.	2007	OTOF
12	OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. (16371502)	Varga R.... Kimberling W.J.	2006	GJB2, OTOF
13	Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. (16804542)	Delmaghani S.... Petit C.	2006	DFNB59
14	Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment (17036997)	Gallo-Teran J.... del Castillo I.	2006	OTOF
15	A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. (16097006)	Tekin M.... Incesulu A.	2005	OTOF
16	Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. (16222667)	Cheng X.... Keats B.	2005	GJB2, GJB6
17	Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. (15637703)	Wang Q.... Guan M.X.	2005	OTOF
18	A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. (15520414)	Kim T.B.... Lesperance M.M.	2004	DIAPH3
19	Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. (12525542)	Varga R.... Kimberling W.J.	2003	OTOF
20	Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). (14635104)	Rodriguez-Ballesteros M.... del Castillo I.	2003	OTOF
21	Familial auditory neuropathy. (12972945)	Wang Q.... Yang W.	2003	AUNX1, DFN8
22	Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser). (12805115)	Starr A.... Keats B.	2003	MPZ

Genes related to auditory neuropathy according to GeneCards:

(show all 15)

id	Symbol	Description	Score	GeneCards Section Context
1	DIAPH3	diaphanous homolog 3 (Drosophila)	11.1	Publications, Aliases & Descriptions, Summaries
2	AUNX1	auditory neuropathy, X-linked recessive 1	11.1	Publications, Aliases & Descriptions
3	OTOF	otoferlin	11.0	Publications
4	DFN8	deafness, X-linked 8	11.0	Publications
5	DFNA55	deafness, autosomal dominant 55	11.0	Publications
6	DFNB59	deafness, autosomal recessive 59	11.0	Publications
7	GSC	goosecoid homeobox	11.0	Publications
8	TMEM126A	transmembrane protein 126A	11.0	Publications
9	GJB6	gap junction protein, beta 6, 30kDa	11.0	Publications
10	MPZ	myelin protein zero	11.0	Publications
11	GJB2	gap junction protein, beta 2, 26kDa	11.0	Publications
12	GRIA3	glutamate receptor, ionotropic, AMPA 3	11.0	Publications
13	CHGA	chromogranin A (parathyroid secretory protein 1)	11.0	Publications
14	PICALM	phosphatidylinositol binding clathrin assembly protein	11.0	Publications
15	FOXN3	forkhead box N3	11.0	Publications

Compounds related to auditory neuropathy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	gap 2742	9.6	GJB2, GJB6
2	gap 2642	9.3	GJB2, GJB6

Cellular components related to auditory neuropathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	connexon complex	GO:005922	9.6	GJB2, GJB6

Biological processes related to auditory neuropathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sensory perception of sound	GO:007605	9.1	GJB2, GJB6, OTOF, DFNB59