Auditory Neuropathy, Autosomal Dominant, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Auditory Neuropathy, Autosomal Dominant, 1

MalaCards integrated aliases for Auditory Neuropathy, Autosomal Dominant, 1:

Name: Auditory Neuropathy, Autosomal Dominant, 1 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Auna1 ⁵⁶ ¹² ⁷³

Nsdan ⁵⁶ ¹² ⁷³

Autosomal Dominant Auditory Neuropathy 1 ¹² ¹⁵

Nonsyndromic Auditory Neuropathy Autosomal Dominant ⁷³

Auditory Neuropathy, Nonsyndromic Dominant; Nsdan ⁵⁶

Auditory Neuropathy, Nonsyndromic Dominant ⁵⁶

Nonsyndromic Dominant Auditory Neuropathy ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
average age at onset 18.6 years

HPO:

³¹

auditory neuropathy, autosomal dominant, 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Ear diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

External Ids:

Disease Ontology ¹² DOID:0060690

OMIM ⁵⁶ 609129

OMIM Phenotypic Series ⁵⁶ PS609129

MeSH ⁴³ D006319

ICD10 ³² H90.3

MedGen ⁴¹ C1836743

SNOMED-CT via HPO ⁶⁸ 102971006 263681008 60700002

UMLS ⁷¹ C1836743

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Summaries for Auditory Neuropathy, Autosomal Dominant, 1

OMIM : ⁵⁶ Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071. (609129)

MalaCards based summary : Auditory Neuropathy, Autosomal Dominant, 1, also known as auna1, is related to auditory neuropathy spectrum disorder and branchiootic syndrome 1. An important gene associated with Auditory Neuropathy, Autosomal Dominant, 1 is DIAPH3 (Diaphanous Related Formin 3). Related phenotypes are sensorineural hearing impairment and abnormal auditory evoked potentials

Disease Ontology : ¹² An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has material basis in heterozygous mutation in the DIAPH3 gene on chromosome 13q.

UniProtKB/Swiss-Prot : ⁷³ Auditory neuropathy, autosomal dominant, 1: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.

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Related Diseases for Auditory Neuropathy, Autosomal Dominant, 1

Diseases in the Auditory Neuropathy Spectrum Disorder family:

Auditory Neuropathy, Autosomal Dominant, 1

Diseases related to Auditory Neuropathy, Autosomal Dominant, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 52, show less)

#	Related Disease	Score	Top Affiliating Genes
1	auditory neuropathy spectrum disorder	31.1	PJVK OTOF
2	branchiootic syndrome 1	30.5	PJVK OTOF GJB2
3	neuropathy	10.4
4	deafness, autosomal recessive 85	10.3	PJVK OTOF
5	deafness, autosomal recessive 59	10.3	PJVK OTOF
6	deafness, autosomal recessive 83	10.3	PJVK OTOF
7	deafness, autosomal dominant 6	10.2	GJB2 DIAPH1
8	deafness, autosomal recessive 22	10.2	PJVK OTOF
9	dfnb1	10.2	OTOF GJB2
10	deafness, autosomal recessive 77	10.2	PJVK GJB2
11	duodenal atresia	10.2
12	chromosomal triplication	10.2
13	deafness, autosomal recessive 21	10.2	PJVK GJB2
14	deafness, autosomal recessive 49	10.2	PJVK GJB2
15	deafness, x-linked 5, with peripheral neuropathy	10.1	PJVK OTOF DIAPH3
16	cryptophthalmos, unilateral or bilateral, isolated	10.1	FMN1 DIAPH3
17	deafness, autosomal recessive 16	10.1	OTOF GJB2
18	deafness, autosomal dominant 36	10.1	OTOF GJB2
19	x-linked nonsyndromic deafness	10.0	OTOF GJB2
20	deafness, autosomal recessive	10.0	PJVK OTOF GJB2
21	deafness, autosomal recessive 93	10.0	PJVK OTOF GJB2
22	autosomal recessive nonsyndromic deafness	10.0	PJVK OTOF GJB2
23	autosomal recessive nonsyndromic deafness 3	10.0	PJVK OTOF GJB2
24	deafness, autosomal recessive 25	10.0	PJVK ESPNL
25	deafness, autosomal recessive 8	10.0	PJVK OTOF GJB2
26	deafness, autosomal recessive 7	10.0	PJVK OTOF GJB2
27	usher syndrome, type iia	10.0	OTOF GJB2
28	deafness, autosomal recessive 2	10.0	PJVK OTOF GJB2
29	deafness, autosomal recessive 1a	10.0	PJVK OTOF GJB2
30	auditory system disease	10.0	PJVK OTOF GJB2
31	autosomal recessive non-syndromic sensorineural deafness type dfnb	10.0	PJVK OTOF GJB2
32	deafness, autosomal dominant 67	10.0	OTOF GJB2 DIAPH1
33	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	10.0	PJVK OTOF GJB2
34	deafness, autosomal recessive 28	10.0	OTOF ESPNL
35	otosclerosis	10.0	PJVK OTOF GJB2
36	vestibular disease	10.0	OTOF GJB2
37	deafness, autosomal recessive 12	9.9	OTOF GJB2
38	deafness, autosomal recessive 61	9.9	SLC17A8 OTOF
39	branchiootorenal syndrome	9.9	OTOF GJB2
40	deafness, autosomal dominant 25	9.8	SLC17A8 OTOF
41	deafness, autosomal dominant 64	9.8	SLC17A8 GJB2
42	deafness, autosomal dominant 2a	9.8	SLC17A8 GJB2
43	nonsyndromic hearing loss	9.8	PJVK OTOF GJB2 DIAPH1
44	rare genetic deafness	9.8	PJVK OTOF GJB2 DIAPH1
45	deafness, autosomal dominant 1	9.7	GJB2 FMN1 DIAPH3 DIAPH1
46	usher syndrome, type i	9.7	PJVK OTOF GJB2 DIAPH1
47	pendred syndrome	9.7	OTOF GJB2
48	usher syndrome, type ic	9.7	SLC17A8 GJB2
49	autosomal dominant non-syndromic sensorineural deafness type dfna	9.6	SLC17A8 GJB2 DIAPH3
50	deafness, autosomal recessive 9	9.4	SLC17A8 PJVK OTOF GJB2
51	sensorineural hearing loss	9.1	SLC17A8 OTOF GJB2 DIAPH3 DIAPH1
52	autosomal dominant nonsyndromic deafness	8.7	SLC17A8 PJVK OTOF GJB2 FMN1 DIAPH3

Graphical network of the top 20 diseases related to Auditory Neuropathy, Autosomal Dominant, 1:

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Symptoms & Phenotypes for Auditory Neuropathy, Autosomal Dominant, 1

Human phenotypes related to Auditory Neuropathy, Autosomal Dominant, 1:

³¹ (showing 4, show less)

#	Description	HPO Source Accession
1	sensorineural hearing impairment ³¹	HP:0000407
2	abnormal auditory evoked potentials ³¹	HP:0006958
3	abnormal speech discrimination ³¹	HP:0001963
4	absence of acoustic reflex ³¹	HP:0008529

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
abnormal speech discrimination
hearing loss, neural type
abnormal or absent auditory nerve and brainstem responses
absent middle ear reflexes
abnormal auditory temporal processes
more

Clinical features from OMIM:

609129

MGI Mouse Phenotypes related to Auditory Neuropathy, Autosomal Dominant, 1:

⁴⁵ (showing 4, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.73	ELMOD1 ESPNL GJB2 OTOF PJVK SLC17A8
2	integument	MP:0010771	9.63	DIAPH1 DIAPH3 ELMOD1 FMN1 GJB2 SLC17A8
3	nervous system	MP:0003631	9.5	DIAPH1 ELMOD1 GJB2 OTOF PCDH9 PJVK
4	no phenotypic analysis	MP:0003012	9.02	DIAPH1 DIAPH3 FMN1 GJB2 OTOF

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Drugs & Therapeutics for Auditory Neuropathy, Autosomal Dominant, 1

Search Clinical Trials , NIH Clinical Center for Auditory Neuropathy, Autosomal Dominant, 1

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Genetic Tests for Auditory Neuropathy, Autosomal Dominant, 1

Genetic tests related to Auditory Neuropathy, Autosomal Dominant, 1:

#	Genetic test	Affiliating Genes
1	Auditory Neuropathy, Autosomal Dominant, 1 ²⁹	DIAPH3

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Anatomical Context for Auditory Neuropathy, Autosomal Dominant, 1

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Publications for Auditory Neuropathy, Autosomal Dominant, 1

Articles related to Auditory Neuropathy, Autosomal Dominant, 1:

(showing 16, show less)

#	Title	Authors	PMID	Year
1	Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. ⁶¹ ⁶ ⁵⁶	Schoen CJ...Lesperance MM	20624953	2010
2	A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. ⁶¹ ⁵⁶	Kim TB...Lesperance MM	15520414	2004
3	Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. ⁶	Dai D...Xing G	18983818	2008
4	A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. ⁶	Yao YG...Bandelt HJ	16528519	2006
5	Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. ⁶	Wang Q...Guan MX	15637703	2005
6	A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. ⁵⁶	Starr A...Lesperance MM	15675004	2004
7	Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. ⁶	Zhao L...Guan MX	15555598	2004
8	Maternally inherited deafness associated with a T1095C mutation in the mDNA. ⁶	Tessa A...Santorelli FM	11313749	2001
9	A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. ⁶	Thyagarajan D...DiMauro S	11079536	2000
10	Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. ⁵⁶	Satya-Murti S...Hanson P	7191495	1980
11	Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy. ⁵⁶	Satya-Murti S...Hanson PA	223494	1979
12	AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. ⁶¹	Lang-Roth R...Volk AE	28601886	2017
13	Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. ⁶¹	Surel C...Nouvian R	28058271	2016
14	Molecular study of patients with auditory neuropathy. ⁶¹	Carvalho GM...Sartorato EL	27177047	2016
15	Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness. ⁶¹	Schoen CJ...Lesperance MM	23441200	2013
16	Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). ⁶¹	Grati FR...Simoni G	19353688	2009

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Genes for Auditory Neuropathy, Autosomal Dominant, 1

Genes/enhancers related to Auditory Neuropathy, Autosomal Dominant, 1 (1 elite genes):

(showing 11, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DIAPH3	Diaphanous Related Formin 3	Protein Coding	1036.3	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	20624953
1	DIAPH3::GH13J060161	TSS distance: +0.2kb Elite enhancer with elite association with DIAPH3			Curated enhancer-disease association ²³ ( 27569544 )	20624953
2	PJVK	Pejvakin	Protein Coding	8.14	DISEASES inferred ¹⁵
3	OTOF	Otoferlin	Protein Coding	7.58	DISEASES inferred ¹⁵
4	DIAPH1	Diaphanous Related Formin 1	Protein Coding	6.64	DISEASES inferred ¹⁵
5	FMN1	Formin 1	Protein Coding	6.47	DISEASES inferred ¹⁵
6	GJB2	Gap Junction Protein Beta 2	Protein Coding	6.19	DISEASES inferred ¹⁵
7	SNN	Stannin	Protein Coding	5.72	DISEASES inferred ¹⁵
8	PCDH9	Protocadherin 9	Protein Coding	5.63	DISEASES inferred ¹⁵
9	ESPNL	Espin Like	Protein Coding	5.56	DISEASES inferred ¹⁵
10	SLC17A8	Solute Carrier Family 17 Member 8	Protein Coding	5.48	DISEASES inferred ¹⁵
11	ELMOD1	ELMO Domain Containing 1	Protein Coding	5.4	DISEASES inferred ¹⁵

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Variations for Auditory Neuropathy, Autosomal Dominant, 1

ClinVar genetic disease variations for Auditory Neuropathy, Autosomal Dominant, 1:

⁶ (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DIAPH3	DIAPH3, -172G-A	SNV	Pathogenic	31218
2	DIAPH3	NM_001042517.2(DIAPH3):c.2079_2083AAGAG[1] (p.Glu695fs)	short repeat	Uncertain significance	225339	rs749068924	13:60498991-60498995	13:59924857-59924861
3	DIAPH3	NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)	SNV	Uncertain significance	915388		13:60565311-60565311	13:59991177-59991177
4	DIAPH3	NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro)	SNV	Likely benign	514234	rs191267920	13:60498930-60498930	13:59924796-59924796
5	DIAPH3	NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg)	SNV	Likely benign	522938	rs766502252	13:60557944-60557944	13:59983810-59983810
6	DIAPH3	NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)	SNV	Benign/Likely benign	449011	rs200018583	13:60545105-60545105	13:59970971-59970971
7	DIAPH3	NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA	insertion	Benign	508094	rs10665848	13:60385060-60385061	13:59810926-59810927

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Expression for Auditory Neuropathy, Autosomal Dominant, 1

Search GEO for disease gene expression data for Auditory Neuropathy, Autosomal Dominant, 1.

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Pathways for Auditory Neuropathy, Autosomal Dominant, 1

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GO Terms for Auditory Neuropathy, Autosomal Dominant, 1

Cellular components related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

(showing 1, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	8.92	SLC17A8 OTOF GJB2 FMN1

Biological processes related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

(showing 3, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament polymerization	GO:0030041	9.16	DIAPH3 DIAPH1
2	sensory perception of sound	GO:0007605	9.1	SLC17A8 PJVK OTOF GJB2 ESPNL DIAPH1
3	cellular component organization	GO:0016043	8.96	DIAPH3 DIAPH1

Molecular functions related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

(showing 2, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	Rho GTPase binding	GO:0017048	8.96	DIAPH3 DIAPH1
2	actin binding	GO:0003779	8.92	FMN1 ESPNL DIAPH3 DIAPH1

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Auditory Neuropathy, Autosomal Dominant, 1 (AUNA1)

Aliases & Classifications for Auditory Neuropathy, Autosomal Dominant, 1

MalaCards integrated aliases for Auditory Neuropathy, Autosomal Dominant, 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Auditory Neuropathy, Autosomal Dominant, 1

Related Diseases for Auditory Neuropathy, Autosomal Dominant, 1

Diseases in the Auditory Neuropathy Spectrum Disorder family:

Diseases related to Auditory Neuropathy, Autosomal Dominant, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Auditory Neuropathy, Autosomal Dominant, 1:

Symptoms & Phenotypes for Auditory Neuropathy, Autosomal Dominant, 1

Human phenotypes related to Auditory Neuropathy, Autosomal Dominant, 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Auditory Neuropathy, Autosomal Dominant, 1:

Drugs & Therapeutics for Auditory Neuropathy, Autosomal Dominant, 1

Genetic Tests for Auditory Neuropathy, Autosomal Dominant, 1

Genetic tests related to Auditory Neuropathy, Autosomal Dominant, 1:

Anatomical Context for Auditory Neuropathy, Autosomal Dominant, 1

Publications for Auditory Neuropathy, Autosomal Dominant, 1

Articles related to Auditory Neuropathy, Autosomal Dominant, 1:

Genes for Auditory Neuropathy, Autosomal Dominant, 1

Genes/enhancers related to Auditory Neuropathy, Autosomal Dominant, 1 (1 elite genes):

Variations for Auditory Neuropathy, Autosomal Dominant, 1

ClinVar genetic disease variations for Auditory Neuropathy, Autosomal Dominant, 1:

Expression for Auditory Neuropathy, Autosomal Dominant, 1

Pathways for Auditory Neuropathy, Autosomal Dominant, 1

GO Terms for Auditory Neuropathy, Autosomal Dominant, 1

Cellular components related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

Biological processes related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

Molecular functions related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

Sources for Auditory Neuropathy, Autosomal Dominant, 1