ORPHA:90635

Autosomal dominant non-syndromic genetic deafness

Synonyms: Autosomal dominant non-syndromic neurosensory hearing loss · Autosomal dominant non-syndromic sensorineural deafness · Autosomal dominant non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNA · Autosomal dominant isolated neurosensory deafness · Autosomal dominant isolated neurosensory hearing loss · Autosomal dominant isolated sensorineural deafness · Autosomal dominant isolated sensorineural hearing loss · Autosomal dominant non-syndromic genetic hearing loss · Autosomal dominant non-syndromic neurosensory deafness

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Age of onset: Childhood
Status: active

This disease is described under Rare non-syndromic genetic deafness

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant non-syndromic genetic deafness	Autosomal dominant non-syndromic neurosensory hearing loss · Autosomal dominant non-syndromic sensorineural deafness · Autosomal dominant non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNA · Autosomal dominant isolated neurosensory deafness · Autosomal dominant isolated neurosensory hearing loss · Autosomal dominant isolated sensorineural deafness · Autosomal dominant isolated sensorineural hearing loss · Autosomal dominant non-syndromic genetic hearing loss · Autosomal dominant non-syndromic neurosensory deafness
fr	Surdité non syndromique autosomique dominante	Surdité de perception isolée autosomique dominante · Surdité de perception non syndromique autosomique dominante · Surdité neurosensorielle isolée autosomique dominante
de	Autosomal-dominante nicht-syndromale Schwerhörigkeit	Autosomal-dominanter isolierter neurosensorischer Hörverlust · Hörverlust, isolierter neurosensorischer, autosomal-dominanter · Hörverlust, nicht-syndromaler, Typ DFNA · Autosomal-dominante isolierte sensorineurale Taubheit · Autosomal-dominante nicht-syndromale neurosensorische Taubheit · Autosomal-dominante nicht-syndromale sensorineurale Schwerhörigkeit
es	Sordera genética no sindrómica autosómica dominante	Sordera neurosensorial aislada autosómica dominante · Hipoacusia neurosensorial aislada autosómica dominante · Hipoacusia genética no sindrómica autosómica dominante · Sordera neurosensorial no sindrómica autosómica dominante · Hipoacusia neurosensorial no sindrómica autosómica dominante · DFNA genética no sindrómica
it	Sordità genetica non sindromica autosomica dominante	Perdita dell'udito neurosensoriale non sindromica autosomica dominante · 'Sordità neurosensoriale isolata autosomica dominante,tipo DFNA' · 'Sordità neurosensoriale non sindromica, autosomica dominante, tipo DFNA' · DFNA genetica non sindromica · Sordità neurosensoriale isolata autosomica dominante · Perdita dell'udito neurosensoriale isolata autosomica dominante · Perdita dell'udito genetica non sindromica autosomica dominante · Sordità neurosensoriale non sindromica autosomica dominante
nl	Autosomaal dominante niet-syndromale genetische doofheid	Autosomaal dominante geïsoleerde sensorineurale doofheid · Autosomaal dominant geïsoleerd sensorineuraal gehoorverlies · Autosomaal dominant niet-syndromaal genetisch gehoorverlies · Autosomaal dominant niet-syndromaal perceptief gehoorverlies · Autosomaal dominant niet-syndromaal sensorineuraal gehoorverlies · Niet-syndromale genetische DFNA · Autosomaal dominante niet-syndromale sensorineurale doofheid · Autosomaal dominant geïsoleerd perceptief gehoorverlies
pt	Surdez neurossensorial não-sindromática rara autossómica dominante tipo DFNA	Perda auditiva neurossensorial isolada autossómica dominante tipo DFNA · Perda auditiva neurossensorial não-sindromática autossómica dominante tipo DFNA · Surdez neurossensorial isolada autossómica dominante tipo DFNA · Surdez neurossensorial não-sindromática autossómica dominante tipo DFNA
pl	Autosomalna dominująca niesyndromiczna głuchota czuciowo-nerwowa typu DFNB	Autosomalna dominująca izolowana głuchota czuciowo-nerwowa typu DFNA · Autosomalna dominująca izolowana głuchota nerwowo-czuciowa typu DFNA · Autosomalna dominująca izolowana utrata słuchu czuciowo-nerwowa typu DFNA · Autosomalna dominująca izolowana utrata słuchu czuciowo-nerwowa typu DFNA · Autosomalna dominująca izolowana utrata słuchu nerwowo-czuciowa typu DFNA · Autosomalna dominująca niesyndromiczna utrata słuchu czuciowo-nerwowa typu DFNA · Autosomalna dominująca niesyndromiczna utrata słuchu nerwowo-czuciowa typu DFNA · Rzadka autosomalna dominująca niesyndromiczna głuchota czuciowo-nerwowa typu DFNA
cs	Autozomálně dominantní nesyndromová senzorineurální hluchota (zkratka DFNA)	Autozomálně dominantní izolovaná senzorineurální hluchota, typ DFNA · Autozomálně dominantní izolovaná senzorineurální ztráta sluchu, typ DFNA · Autozomálně dominantní nesyndromická senzorineurální hluchota, typ DFNA · Autozomálně dominantní nesyndromická senzorineurální ztráta sluchu, typ DFNA
uk	Рідкісна аутосомно-домінантна несиндромальна сенсоневральна глухота, тип DFNA	Аутосомно-домінантна ізольована нейросенсорна глухота типу DFNA · Аутосомно-домінантна ізольована нейросенсорна приглухуватість типу DFNA · Аутосомно-домінантна ізольована сенсоневральна глухота типу DFNA · Аутосомно-домінантна ізольована сенсоневральна приглухуватість типу DFNA · Аутосомно-домінантна несиндромальна нейросенсорна глухота типу DFNA · Аутосомно-домінантна несиндромальна нейросенсорна приглухуватість типу DFNA · Аутосомно-домінантна несиндромальна сенсоневральна приглухуватість типу DFNA
zh	常染色体显性遗传非综合征性感音神经性聋DFNA型	常染色体显性遗传非综合征型神经感觉性耳聋DFNA型
tr	Otozomal dominant sendromik olmayan sensörinöral sağırlık tipi DFNA	Otozomal baskın sendromik olmayan nörosensör işitme kaybı tip DFNA · Otozomal baskın, sendromik olmayan sensörinöral işitme kaybı tip DFNA · Otozomal baskın izole nörosensoriyel sağırlık tip DFNA · Otozomal baskın izole sensörinöral sağırlık tip DFNA · Otozomal baskın izole nörosensoriyel işitme kaybı tip DFNA · Otozomal baskın izole sensörinöral işitme kaybı tip DFNA · Otozomal baskın sendromik olmayan nörosensöriyel sağırlık tip DFNA

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	600101	BTNT		validated
OMIM	600652	BTNT		validated
OMIM	600965	BTNT		validated
OMIM	600994	BTNT		validated
OMIM	601316	BTNT		validated
OMIM	601317	BTNT		validated
OMIM	601369	BTNT		validated
OMIM	601412	BTNT		validated
OMIM	601543	BTNT		validated
OMIM	601544	BTNT		validated
OMIM	601868	BTNT		validated
OMIM	602459	BTNT		validated
OMIM	603622	BTNT		validated
OMIM	603964	BTNT		validated
OMIM	604717	BTNT		validated
OMIM	605192	BTNT		validated
OMIM	605583	BTNT		validated
OMIM	606012	BTNT		validated
OMIM	606282	BTNT		validated
OMIM	606346	BTNT		validated
OMIM	606451	BTNT		validated
OMIM	606705	BTNT		validated
OMIM	607017	BTNT		validated
OMIM	607197	BTNT		validated
OMIM	607453	BTNT		validated
OMIM	607841	BTNT		validated
OMIM	608224	BTNT		validated
OMIM	608372	BTNT		validated
OMIM	608394	BTNT		validated
OMIM	608641	BTNT		validated
OMIM	608645	BTNT		validated
OMIM	608652	BTNT		validated
OMIM	609129	BTNT		validated
OMIM	609965	BTNT		validated
OMIM	612431	BTNT		validated
OMIM	612642	BTNT		validated
OMIM	612643	BTNT		validated
OMIM	612644	BTNT		validated
OMIM	613074	BTNT		validated
OMIM	613558	BTNT		validated
OMIM	614152	BTNT		validated
OMIM	614211	BTNT		validated
OMIM	614614	BTNT		validated
OMIM	615629	BTNT		validated
OMIM	615649	BTNT		validated
OMIM	615654	BTNT		validated
OMIM	616044	BTNT		validated
OMIM	616340	BTNT		validated
OMIM	616357	BTNT		validated
OMIM	616697	BTNT		validated
OMIM	616707	BTNT		validated
OMIM	616968	BTNT		validated
OMIM	616969	BTNT		validated
OMIM	617605	BTNT		validated
OMIM	617606	BTNT		validated
OMIM	617663	BTNT		validated
OMIM	618094	BTNT		validated
OMIM	618140	BTNT		validated
OMIM	618410	BTNT		validated
OMIM	618533	BTNT		validated
OMIM	618778	BTNT		validated
OMIM	618787	BTNT		validated
OMIM	618915	BTNT		validated
OMIM	619081	BTNT		validated
OMIM	619086	BTNT		validated
OMIM	619274	BTNT		validated
OMIM	620227	BTNT		validated
OMIM	621556	BTNT		validated
ICD-10	H90.3	NTBT	attributed	validated
ICD-11	AB50	NTBT	attributed	validated
MONDO	0019587	E		validated
UMLS	C5779548	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98036Rare otorhinolaryngologic disease

Parents in the classifications (1):

ORPHA:87884Rare non-syndromic genetic deafness
rare genetic diseases; rare otorhinolaryngological diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:1767Familial progressive vestibulocochlear dysfunction moved to · inactive

Genes

51 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MYO1A	Candidate gene tested in	Not yet assessed	HGNC:7595	ENSG00000166866	601478	12q13.3	myosin IA
ABCC1	Disease-causing germline mutation(s) in	Assessed	HGNC:51	ENSG00000103222	158343	16p13.11	ATP binding cassette subfamily C member 1 (ABCC1 blood group)	31273342[PMID]
ACTG1	Disease-causing germline mutation(s) in	Assessed	HGNC:144	ENSG00000184009	102560	17q25.3	actin gamma 1	20301607[PMID]_24148127[PMID]
ATP11A	Disease-causing germline mutation(s) in	Assessed	HGNC:13552	ENSG00000068650	605868	13q34	ATPase phospholipid transporting 11A	35278131[PMID]
CCDC50	Disease-causing germline mutation(s) in	Assessed	HGNC:18111	ENSG00000152492	611051	3q28	coiled-coil domain containing 50	20301607[PMID]_24148127[PMID]
CD164	Disease-causing germline mutation(s) in	Assessed	HGNC:1632	ENSG00000135535	603356	6q21	CD164 molecule	26197441[PMID]
CEACAM16	Disease-causing germline mutation(s) in	Assessed	HGNC:31948	ENSG00000213892	614591	19q13.31-q13.32	CEA cell adhesion molecule 16, tectorial membrane component	21368133[PMID]
CENPP	Disease-causing germline mutation(s) in	Assessed	HGNC:32933	ENSG00000188312	611505	9q22.31	centromere protein P	36071244[PMID]
COCH	Disease-causing germline mutation(s) in	Assessed	HGNC:2180	ENSG00000100473	603196	14q12	cochlin	20301607[PMID]_24148127[PMID]
COL11A1	Disease-causing germline mutation(s) in	Assessed	HGNC:2186	ENSG00000060718	120280	1p21.1	collagen type XI alpha 1 chain	30245514[PMID]_33605226[PMID]
COL11A2	Disease-causing germline mutation(s) in	Assessed	HGNC:2187	ENSG00000204248	120290	6p21.32	collagen type XI alpha 2 chain	20301607[PMID]_24148127[PMID]
CRYM	Disease-causing germline mutation(s) in	Assessed	HGNC:2418	ENSG00000103316	123740	16p12.2	crystallin mu	24148127[PMID]
DIABLO	Disease-causing germline mutation(s) in	Assessed	HGNC:21528	ENSG00000184047	605219	12q24.31	diablo IAP-binding mitochondrial protein	21722859[PMID]_24148127[PMID]
DIAPH3	Disease-causing germline mutation(s) in	Assessed	HGNC:15480	ENSG00000139734	614567	13q21.2	diaphanous related formin 3	20624953[PMID]
DMXL2	Disease-causing germline mutation(s) in	Assessed	HGNC:2938	ENSG00000104093	612186	15q21.2	Dmx like 2	27657680[PMID]
ESPN	Disease-causing germline mutation(s) in	Assessed	HGNC:13281	ENSG00000187017	606351	1p36.31	espin	15930085[PMID]
EYA4	Disease-causing germline mutation(s) in	Assessed	HGNC:3522	ENSG00000112319	603550	6q23.2	EYA transcriptional coactivator and phosphatase 4	20301607[PMID]_24148127[PMID]
GJB2	Disease-causing germline mutation(s) in	Assessed	HGNC:4284	ENSG00000165474	121011	13q12.11	gap junction protein beta 2	20301607[PMID]_24148127[PMID]
GJB3	Disease-causing germline mutation(s) in	Assessed	HGNC:4285	ENSG00000188910	603324	1p34.3	gap junction protein beta 3	20301607[PMID]_24148127[PMID]
GJB6	Disease-causing germline mutation(s) in	Assessed	HGNC:4288	ENSG00000121742	604418	13q12.11	gap junction protein beta 6	20301607[PMID]_24148127[PMID]
GRHL2	Disease-causing germline mutation(s) in	Assessed	HGNC:2799	ENSG00000083307	608576	8q22.3	grainyhead like transcription factor 2	20301607[PMID]_24148127[PMID]
GSDME	Disease-causing germline mutation(s) in	Assessed	HGNC:2810	ENSG00000105928	608798	7p15.3	gasdermin E	20301607[PMID]_24148127[PMID]
HOMER2	Disease-causing germline mutation(s) in	Assessed	HGNC:17513	ENSG00000103942	604799	15q25.2	homer scaffold protein 2	25816005[PMID]
KCNQ4	Disease-causing germline mutation(s) in	Assessed	HGNC:6298	ENSG00000117013	603537	1p34.2	potassium voltage-gated channel subfamily Q member 4	20301607[PMID]_24148127[PMID]
KITLG	Disease-causing germline mutation(s) in	Assessed	HGNC:6343	ENSG00000049130	184745	12q21.32	KIT ligand	26522471[PMID]
MAP1B	Disease-causing germline mutation(s) in	Assessed	HGNC:6836	ENSG00000131711	157129	5q13.2	microtubule associated protein 1B	33268592[PMID]
MCM2	Disease-causing germline mutation(s) in	Assessed	HGNC:6944	ENSG00000073111	116945	3q21.3	minichromosome maintenance complex component 2	26196677[PMID]
MIR96	Disease-causing germline mutation(s) in	Assessed	HGNC:31648	ENSG00000199158	611606	7q32.2	microRNA 96	20301607[PMID]_24148127[PMID]
MYH14	Disease-causing germline mutation(s) in	Assessed	HGNC:23212	ENSG00000105357	608568	19q13.33	myosin heavy chain 14	20301607[PMID]_24148127[PMID]
MYH9	Disease-causing germline mutation(s) in	Assessed	HGNC:7579	ENSG00000100345	160775	22q12.3	myosin heavy chain 9	20301607[PMID]_24148127[PMID]
MYO1C	Disease-causing germline mutation(s) in	Assessed	HGNC:7597	ENSG00000197879	606538	17p13.3	myosin IC	19027848[PMID]_24148127[PMID]
MYO6	Disease-causing germline mutation(s) in	Assessed	HGNC:7605	ENSG00000196586	600970	6q14.1	myosin VI	20301607[PMID]_24148127[PMID]
MYO7A	Disease-causing germline mutation(s) in	Assessed	HGNC:7606	ENSG00000137474	276903	11q13.5	myosin VIIA	20301607[PMID]_24148127[PMID]
OSBPL2	Disease-causing germline mutation(s) in	Assessed	HGNC:15761	ENSG00000130703	606731	20q13.33	oxysterol binding protein like 2	25077649[PMID]
P2RX2	Disease-causing germline mutation(s) in	Assessed	HGNC:15459	ENSG00000187848	600844	12q24.33	purinergic receptor P2X 2	23345450[PMID]_20301607[PMID]
PDE1C	Disease-causing germline mutation(s) in	Assessed	HGNC:8776	ENSG00000154678	602987	7p14.3	phosphodiesterase 1C	29860631[PMID]
PLS1	Disease-causing germline mutation(s) in	Assessed	HGNC:9090	ENSG00000120756	602734	3q23	plastin 1	31397523[PMID]_30872814[PMID]
POU4F3	Disease-causing germline mutation(s) in	Assessed	HGNC:9220	ENSG00000091010	602460	5q32	POU class 4 homeobox 3	20301607[PMID]_24148127[PMID]
PTPRQ	Disease-causing germline mutation(s) in	Assessed	HGNC:9679	ENSG00000139304	603317	12q21.31	protein tyrosine phosphatase receptor type Q	29309402[PMID]
SIX1	Disease-causing germline mutation(s) in	Assessed	HGNC:10887	ENSG00000126778	601205	14q23.1	SIX homeobox 1	20301607[PMID]
SLC17A8	Disease-causing germline mutation(s) in	Assessed	HGNC:20151	ENSG00000179520	607557	12q23.1	solute carrier family 17 member 8	20301607[PMID]
SLC44A4	Disease-causing germline mutation(s) in	Assessed	HGNC:13941	ENSG00000204385	606107	6p21.33	solute carrier family 44 member 4	28013291[PMID]
TBC1D24	Disease-causing germline mutation(s) in	Assessed	HGNC:29203	ENSG00000162065	613577	16p13.3	TBC1 domain family member 24	24729547[PMID]_24729539[PMID]
TECTA	Disease-causing germline mutation(s) in	Assessed	HGNC:11720	ENSG00000109927	602574	11q23.3	tectorin alpha	20301607[PMID]_24148127[PMID]
TJP2	Disease-causing germline mutation(s) in	Assessed	HGNC:11828	ENSG00000119139	607709	9q21.11	tight junction protein 2	20301607[PMID]_24148127[PMID]
TMC1	Disease-causing germline mutation(s) in	Assessed	HGNC:16513	ENSG00000165091	606706	9q21.13	transmembrane channel like 1	20301607[PMID]_24148127[PMID]
TNC	Disease-causing germline mutation(s) in	Assessed	HGNC:5318	ENSG00000041982	187380	9q33.1	tenascin C	23936043[PMID]
TRRAP	Disease-causing germline mutation(s) in	Assessed	HGNC:12347	ENSG00000196367	603015	7q22.1	transformation/transcription domain associated protein	31231791[PMID]
USP48	Disease-causing germline mutation(s) in	Assessed	HGNC:18533	ENSG00000090686	617445	1p36.12	ubiquitin specific peptidase 48	34059922[PMID]
WFS1	Disease-causing germline mutation(s) in	Assessed	HGNC:12762	ENSG00000109501	606201	4p16.1	wolframin ER transmembrane glycoprotein	20301607[PMID]_24148127[PMID]
SSBP1	Major susceptibility factor in	Assessed	HGNC:11317	ENSG00000106028	600439	7q34	single stranded DNA binding protein 1	29182774[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/90635
This record as JSON: /data/d/90635.json