ORPHA:87884

Rare non-syndromic genetic deafness

Synonyms: Rare isolated genetic deafness · Rare isolated genetic hearing loss · Rare non-syndromic genetic hearing loss

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

A rare genetic deafness characterized by sensorineural, conductive, or mixed hearing loss occurring as an isolated finding, without associated malformations or abnormalities of other organ systems. Hearing impairment may range from mild to profound; onset may be prelingual or postlingual, and hearing loss may be stable or progressive. It displays marked genetic heterogeneity with autosomal recessive (DFNB; ~75-80%), autosomal dominant (DFNA; ~20%), X-linked (DFNX; ~2-5%), mitochondrial (<1%), and Y-linked (DFNY; <1%) inheritance. Autosomal recessive forms typically present with severe-to-profound congenital hearing loss, while autosomal dominant forms more commonly show progressive postlingual onset.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Rare non-syndromic genetic deafness	Rare isolated genetic deafness · Rare isolated genetic hearing loss · Rare non-syndromic genetic hearing loss
fr	Surdité génétique non syndromique rare	Surdité génétique isolée rare
de	Seltene nicht-syndromale Schwerhörigkeit, genetisch-bedingte	Seltener isolierter genetisch bedingter Hörverlust · Seltene isolierte genetisch bedingte Taubheit · Seltene nicht-syndromale genetisch bedingte Taubheit
es	Sordera genética no sindrómica rara	Hipoacusia genética aislada rara · Hipoacusia genética no sindrómica rara · Sordera genética aislada rara
it	Sordità genetica non sindromica rara	Sordità genetica isolata rara · Perdita dell'udito genetica isolata rara · Sordità genetica non sindromica rara
nl	Zeldzame niet-syndromale genetische doofheid	Zeldzaam geïsoleerd genetisch gehoorverlies · Zeldzame geïsoleerde genetische doofheid · Zeldzaam niet-syndromaal genetisch gehoorverlies
pt	Surdez genética não sindromática
pl	Niesyndromiczna głuchota genetyczna	Izolowana głuchota genetyczna
cs	Nesyndromová geneticky podmíněná hluchota	Izolovaná geneticky podmíněná hluchota
uk	Несиндромальна генетично обумовлена глухота	Ізольована генетична глухота · Ізольована генетична втрата слуху · Несиндромальна генетична приглухуватість
zh	非综合征型遗传性耳聋	非综合征性遗传性听力丧失
tr	Sendromik olmayan genetik sağırlık	İzole genetik sağırlık · İzole genetik işitme kaybı · Sendromik olmayan genetik işitme kaybı

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	H90.5	E	specific	validated
ICD-11	AB50	E	specific	validated
MONDO	0019497	E		validated
UMLS	C5680182	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 (2):

ORPHA:68361Rare deafness
rare otorhinolaryngological diseases
ORPHA:96210Rare genetic deafness
rare genetic diseases

Children (5):

Codes that Orphanet moved or referred to this one:

ORPHA:216445Prelingual non-syndromic genetic deafness moved to · inactive
ORPHA:216452Postlingual non-syndromic genetic deafness moved to · inactive

Genes

0 direct · 139 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GJA1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Candidate gene tested in	Not yet assessed	HGNC:4274	ENSG00000152661	121014	6q22.31	gap junction protein alpha 1	11741837[PMID]
MT-ND4	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Candidate gene tested in	Not yet assessed	HGNC:7459	ENSG00000198886	516003	mitochondria	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4	17723226[PMID]
MYO1A	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Candidate gene tested in	Not yet assessed	HGNC:7595	ENSG00000166866	601478	12q13.3	myosin IA
ADCY1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:232	ENSG00000164742	103072	7p12.3	adenylate cyclase 1	24482543[PMID]
CDC14A	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1718	ENSG00000079335	603504	1p21.2	cell division cycle 14A	27259055[PMID]
EPS8	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3420	ENSG00000151491	600206	12p12.3	EGFR pathway substrate 8, signaling adaptor	24741995[PMID]
GRXCR2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:33862	ENSG00000204928	615762	5q32	glutaredoxin and cysteine rich domain containing 2	24619944[PMID]
S1PR2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3169	ENSG00000267534	605111	19p13.2	sphingosine-1-phosphate receptor 2	26805784[PMID]
SLITRK6	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:23503	ENSG00000184564	609681	13q31.1	SLIT and NTRK like family member 6	23543054[PMID]
ABCC1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	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	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:144	ENSG00000184009	102560	17q25.3	actin gamma 1	20301607[PMID]_24148127[PMID]
AFG2B	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:28762	ENSG00000171763	619578	15q21.1	AAA ATPase AFG2B	34626583[PMID]
ATP11A	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13552	ENSG00000068650	605868	13q34	ATPase phospholipid transporting 11A	35278131[PMID]
BDP1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13652	ENSG00000145734	607012	5q13.2	BDP1 general transcription factor IIIB subunit	24312468[PMID]
BSND	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:16512	ENSG00000162399	606412	1p32.3	barttin CLCNK type accessory subunit beta	20301607[PMID]
CABP2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:1385	ENSG00000167791	607314	11q13.2	calcium binding protein 2	22981119[PMID]
CCDC50	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:18111	ENSG00000152492	611051	3q28	coiled-coil domain containing 50	20301607[PMID]_24148127[PMID]
CD164	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:1632	ENSG00000135535	603356	6q21	CD164 molecule	26197441[PMID]
CDH23	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13733	ENSG00000107736	605516	10q22.1	cadherin related 23	20301607[PMID]_24148127[PMID]
CEACAM16	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	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]
CEACAM16	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:31948	ENSG00000213892	614591	19q13.31-q13.32	CEA cell adhesion molecule 16, tectorial membrane component	29703829[PMID]
CENPP	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:32933	ENSG00000188312	611505	9q22.31	centromere protein P	36071244[PMID]
CIB2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:24579	ENSG00000136425	605564	15q25.1	calcium and integrin binding family member 2	23023331[PMID]_24148127[PMID]
CLDN14	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2035	ENSG00000159261	605608	21q22.13	claudin 14	20301607[PMID]_24148127[PMID]
CLIC5	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13517	ENSG00000112782	607293	6p21.1	CLIC family member 5	24781754[PMID]
COCH	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2180	ENSG00000100473	603196	14q12	cochlin	20301607[PMID]_24148127[PMID]
COL11A1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2186	ENSG00000060718	120280	1p21.1	collagen type XI alpha 1 chain	30245514[PMID]_33605226[PMID]
COL11A2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2187	ENSG00000204248	120290	6p21.32	collagen type XI alpha 2 chain	20301607[PMID]_24148127[PMID]
COL11A2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2187	ENSG00000204248	120290	6p21.32	collagen type XI alpha 2 chain	20301607[PMID]_24148127[PMID]
COL4A6	ORPHA:90625X-linked non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2208	ENSG00000197565	303631	Xq22.3	collagen type IV alpha 6 chain	23714752[PMID]
CRYM	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2418	ENSG00000103316	123740	16p12.2	crystallin mu	24148127[PMID]
DCDC2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:18141	ENSG00000146038	605755	6p22.3	doublecortin domain containing 2	25601850[PMID]
DIABLO	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:21528	ENSG00000184047	605219	12q24.31	diablo IAP-binding mitochondrial protein	21722859[PMID]_24148127[PMID]
DIAPH3	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:15480	ENSG00000139734	614567	13q21.2	diaphanous related formin 3	20624953[PMID]
DMXL2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2938	ENSG00000104093	612186	15q21.2	Dmx like 2	27657680[PMID]
ELMOD3	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26158	ENSG00000115459	615427	2p11.2	ELMO domain containing 3	24039609[PMID]
EPS8L2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:21296	ENSG00000177106	614988	11p15.5	EPS8 signaling adaptor L2	26282398[PMID]
ESPN	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13281	ENSG00000187017	606351	1p36.31	espin	15930085[PMID]
ESPN	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13281	ENSG00000187017	606351	1p36.31	espin	20301607[PMID]_24148127[PMID]
ESRRB	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:3473	ENSG00000119715	602167	14q24.3	estrogen related receptor beta	20301607[PMID]_24148127[PMID]
EYA4	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:3522	ENSG00000112319	603550	6q23.2	EYA transcriptional coactivator and phosphatase 4	20301607[PMID]_24148127[PMID]
GIPC3	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:18183	ENSG00000179855	608792	19p13.3	GIPC PDZ domain containing family member 3	24148127[PMID]
GJB2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4284	ENSG00000165474	121011	13q12.11	gap junction protein beta 2	20301607[PMID]_24148127[PMID]
GJB2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4284	ENSG00000165474	121011	13q12.11	gap junction protein beta 2	20301607[PMID]_24148127[PMID]
GJB3	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4285	ENSG00000188910	603324	1p34.3	gap junction protein beta 3	20301607[PMID]_24148127[PMID]
GJB3	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4285	ENSG00000188910	603324	1p34.3	gap junction protein beta 3	10587579[PMID]
GJB6	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4288	ENSG00000121742	604418	13q12.11	gap junction protein beta 6	20301607[PMID]_24148127[PMID]
GJB6	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4288	ENSG00000121742	604418	13q12.11	gap junction protein beta 6	20301607[PMID]_24148127[PMID]
GPSM2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:29501	ENSG00000121957	609245	1p13.3	G protein signaling modulator 2	20301607[PMID]_24148127[PMID]
GRAP	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4562	ENSG00000154016	604330	17p11.2	GRB2 related adaptor protein	30610177[PMID]
GRHL2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2799	ENSG00000083307	608576	8q22.3	grainyhead like transcription factor 2	20301607[PMID]_24148127[PMID]
GRXCR1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:31673	ENSG00000215203	613283	4p13	glutaredoxin and cysteine rich domain containing 1	20301607[PMID]_24148127[PMID]
GSDME	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:2810	ENSG00000105928	608798	7p15.3	gasdermin E	20301607[PMID]_24148127[PMID]
HGF	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:4893	ENSG00000019991	142409	7q21.11	hepatocyte growth factor	20301607[PMID]_24148127[PMID]
HOMER2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:17513	ENSG00000103942	604799	15q25.2	homer scaffold protein 2	25816005[PMID]
ILDR1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:28741	ENSG00000145103	609739	3q13.33	immunoglobulin like domain containing receptor 1	24148127[PMID]
KARS1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:6215	ENSG00000065427	601421	16q23.1	lysyl-tRNA synthetase 1	23768514[PMID]
KCNQ4	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	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	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:6343	ENSG00000049130	184745	12q21.32	KIT ligand	26522471[PMID]
LHFPL5	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:21253	ENSG00000197753	609427	6p21.31	LHFPL tetraspan subfamily member 5	20301607[PMID]_24148127[PMID]
LOXHD1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26521	ENSG00000167210	613072	18q21.1	lipoxygenase homology PLAT domains 1	20301607[PMID]_24148127[PMID]
LRTOMT	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:25033	ENSG00000184154	612414	11q13.4	leucine rich transmembrane and O-methyltransferase domain containing	20301607[PMID]_24148127[PMID]
MAP1B	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:6836	ENSG00000131711	157129	5q13.2	microtubule associated protein 1B	33268592[PMID]
MARVELD2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26401	ENSG00000152939	610572	5q13.2	MARVEL domain containing 2	20301607[PMID]_24148127[PMID]
MCM2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:6944	ENSG00000073111	116945	3q21.3	minichromosome maintenance complex component 2	26196677[PMID]
MET	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7029	ENSG00000105976	164860	7q31.2	MET proto-oncogene, receptor tyrosine kinase	25941349[PMID]
MINAR2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:33914	ENSG00000186367	620215	5q23.3	membrane integral NOTCH2 associated receptor 2	35727972[PMID]
MIR96	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:31648	ENSG00000199158	611606	7q32.2	microRNA 96	20301607[PMID]_24148127[PMID]
MPZL2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:3496	ENSG00000149573	604873	11q23.3	myelin protein zero like 2	29961571[PMID]
MSRB3	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:27375	ENSG00000174099	613719	12q14.3	methionine sulfoxide reductase B3	24148127[PMID]
MT-CO1	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7419	ENSG00000198804	516030	mitochondria	mitochondrially encoded cytochrome c oxidase I	20301607[PMID]
MT-RNR1	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7470	ENSG00000211459	561000	mitochondria	mitochondrially encoded 12S rRNA	20301607[PMID]_24148127[PMID]
MT-TH	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7487	ENSG00000210176	590040	mitochondria	mitochondrially encoded tRNA-His (CAU/C)	21931169[PMID]
MT-TS1	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7497	ENSG00000210151	590080	mitochondria	mitochondrially encoded tRNA-Ser (UCN) 1	20301607[PMID]_24148127[PMID]
MYH14	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:23212	ENSG00000105357	608568	19q13.33	myosin heavy chain 14	20301607[PMID]_24148127[PMID]
MYH9	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7579	ENSG00000100345	160775	22q12.3	myosin heavy chain 9	20301607[PMID]_24148127[PMID]
MYO15A	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7594	ENSG00000091536	602666	17p11.2	myosin XVA	20301607[PMID]_24148127[PMID]
MYO1C	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7597	ENSG00000197879	606538	17p13.3	myosin IC	19027848[PMID]_24148127[PMID]
MYO3A	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7601	ENSG00000095777	606808	10p12.1	myosin IIIA	20301607[PMID]_24148127[PMID]
MYO6	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7605	ENSG00000196586	600970	6q14.1	myosin VI	20301607[PMID]_24148127[PMID]
MYO6	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7605	ENSG00000196586	600970	6q14.1	myosin VI	20301607[PMID]_24148127[PMID]
MYO7A	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7606	ENSG00000137474	276903	11q13.5	myosin VIIA	20301607[PMID]_24148127[PMID]
MYO7A	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:7606	ENSG00000137474	276903	11q13.5	myosin VIIA	20301607[PMID]_24148127[PMID]
NARS2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26274	ENSG00000137513	612803	11q14.1	asparaginyl-tRNA synthetase 2, mitochondrial	25807530[PMID]
OSBPL2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:15761	ENSG00000130703	606731	20q13.33	oxysterol binding protein like 2	25077649[PMID]
OTOA	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:16378	ENSG00000155719	607038	16p12.2	otoancorin	20301607[PMID]_24148127[PMID]
OTOF	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:8515	ENSG00000115155	603681	2p23.3	otoferlin	20301607[PMID]_24148127[PMID]
OTOG	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:8516	ENSG00000188162	604487	11p15.1	otogelin	23122587[PMID]
OTOGL	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26901	ENSG00000165899	614925	12q21.31	otogelin like	23122586[PMID]
P2RX2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:15459	ENSG00000187848	600844	12q24.33	purinergic receptor P2X 2	23345450[PMID]_20301607[PMID]
PCDH15	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:14674	ENSG00000150275	605514	10q21.1	protocadherin related 15	20301607[PMID]_24148127[PMID]
PDE1C	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:8776	ENSG00000154678	602987	7p14.3	phosphodiesterase 1C	29860631[PMID]
PDZD7	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26257	ENSG00000186862	612971	10q24.31	PDZ domain containing 7	29048736[PMID]_26849169[PMID]
PJVK	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:29502	ENSG00000204311	610219	2q31.2	pejvakin	20301607[PMID]_24148127[PMID]
PLS1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9090	ENSG00000120756	602734	3q23	plastin 1	31397523[PMID]_30872814[PMID]
PNPT1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:23166	ENSG00000138035	610316	2p16.1	polyribonucleotide nucleotidyltransferase 1	23084290[PMID]
POU3F4	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9217	ENSG00000196767	300039	Xq21.1	POU class 3 homeobox 4	19930154[PMID]
POU4F3	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9220	ENSG00000091010	602460	5q32	POU class 4 homeobox 3	20301607[PMID]_24148127[PMID]
PPIP5K2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:29035	ENSG00000145725	611648	5q21.1	diphosphoinositol pentakisphosphate kinase 2	29590114[PMID]
PRPS1	ORPHA:90625X-linked non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9462	ENSG00000147224	311850	Xq22.3	phosphoribosyl pyrophosphate synthetase 1	20301607[PMID]_24148127[PMID]
PTPRQ	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9679	ENSG00000139304	603317	12q21.31	protein tyrosine phosphatase receptor type Q	29309402[PMID]
PTPRQ	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9679	ENSG00000139304	603317	12q21.31	protein tyrosine phosphatase receptor type Q	20301607[PMID]_24148127[PMID]
RDX	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9944	ENSG00000137710	179410	11q22.3	radixin	20301607[PMID]_24148127[PMID]
RIPOR2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13872	ENSG00000111913	611410	6p22.3	RHO family interacting cell polarization regulator 2	24958875[PMID]
ROR1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:10256	ENSG00000185483	602336	1p31.3	receptor tyrosine kinase like orphan receptor 1	27162350[PMID]
SERPINB6	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:8950	ENSG00000124570	173321	6p25.2	serpin family B member 6	24148127[PMID]
SIX1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:10887	ENSG00000126778	601205	14q23.1	SIX homeobox 1	20301607[PMID]
SLC17A8	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:20151	ENSG00000179520	607557	12q23.1	solute carrier family 17 member 8	20301607[PMID]
SLC26A4	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:8818	ENSG00000091137	605646	7q22.3	solute carrier family 26 member 4	20301607[PMID]_24148127[PMID]
SLC26A5	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:9359	ENSG00000170615	604943	7q22.1	solute carrier family 26 member 5	20301607[PMID]_24148127[PMID]
SLC44A4	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:13941	ENSG00000204385	606107	6p21.33	solute carrier family 44 member 4	28013291[PMID]
SMPX	ORPHA:90625X-linked non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:11122	ENSG00000091482	300226	Xp22.12	small muscle protein X-linked	20301607[PMID]_24148127[PMID]
STRC	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:16035	ENSG00000242866	606440	15q15.3	stereocilin	20301607[PMID]_24148127[PMID]
SYNE4	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26703	ENSG00000181392	615535	19q13.12	spectrin repeat containing nuclear envelope family member 4	23348741[PMID]_20301607[PMID]
TBC1D24	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:29203	ENSG00000162065	613577	16p13.3	TBC1 domain family member 24	24729547[PMID]_24729539[PMID]
TBC1D24	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:29203	ENSG00000162065	613577	16p13.3	TBC1 domain family member 24	24387994[PMID]
TBL1Y	ORPHA:718255Y-linked non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:18502	ENSG00000092377	400033	Yp11.2	transducin beta like 1 Y-linked	30341416[PMID]
TECTA	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:11720	ENSG00000109927	602574	11q23.3	tectorin alpha	20301607[PMID]_24148127[PMID]
TECTA	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:11720	ENSG00000109927	602574	11q23.3	tectorin alpha	20301607[PMID]_24148127[PMID]
TJP2	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:11828	ENSG00000119139	607709	9q21.11	tight junction protein 2	20301607[PMID]_24148127[PMID]
TMC1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:16513	ENSG00000165091	606706	9q21.13	transmembrane channel like 1	20301607[PMID]_24148127[PMID]
TMC1	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:16513	ENSG00000165091	606706	9q21.13	transmembrane channel like 1	20301607[PMID]_24148127[PMID]
TMEM132E	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26991	ENSG00000181291	616178	17q12	transmembrane protein 132E	25331638[PMID]
TMIE	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:30800	ENSG00000181585	607237	3p21.31	transmembrane inner ear	20301607[PMID]_24148127[PMID]
TMPRSS3	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:11877	ENSG00000160183	605511	21q22.3	transmembrane serine protease 3	20301607[PMID]_24148127[PMID]
TMTC4	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:25904	ENSG00000125247	618203	13q32.3	transmembrane O-mannosyltransferase targeting cadherins 4	37943620[PMID]
TNC	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:5318	ENSG00000041982	187380	9q33.1	tenascin C	23936043[PMID]
TPRN	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:26894	ENSG00000176058	613354	9q34.3	taperin	20301607[PMID]_24148127[PMID]
TRIOBP	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:17009	ENSG00000100106	609761	22q13.1	TRIO and F-actin binding protein	20301607[PMID]_24148127[PMID]
TRRAP	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:12347	ENSG00000196367	603015	7q22.1	transformation/transcription domain associated protein	31231791[PMID]
USH1C	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:12597	ENSG00000006611	605242	11p15.1	USH1 protein network component harmonin	20301607[PMID]_24148127[PMID]
USP48	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:18533	ENSG00000090686	617445	1p36.12	ubiquitin specific peptidase 48	34059922[PMID]
WBP2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:12738	ENSG00000132471	606962	17q25.1	WW domain binding protein 2	26881968[PMID]
WFS1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:12762	ENSG00000109501	606201	4p16.1	wolframin ER transmembrane glycoprotein	20301607[PMID]_24148127[PMID]
WHRN	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Disease-causing germline mutation(s) in	Assessed	HGNC:16361	ENSG00000095397	607928	9q32	whirlin	20301607[PMID]_24148127[PMID]
SSBP1	ORPHA:90635Autosomal dominant non-syndromic genetic deafness	Major susceptibility factor in	Assessed	HGNC:11317	ENSG00000106028	600439	7q34	single stranded DNA binding protein 1	29182774[PMID]
ATP2B2	ORPHA:90636Autosomal recessive non-syndromic genetic deafness	Modifying germline mutation in	Assessed	HGNC:815	ENSG00000157087	108733	3p25.3	ATPase plasma membrane Ca2+ transporting 2	15829536[PMID]
TFB1M	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Modifying germline mutation in	Assessed	HGNC:17037	ENSG00000029639	607033	6q25.3	transcription factor B1, mitochondrial	23510774[PMID]
TRMU	ORPHA:90641Mitochondrial non-syndromic sensorineural deafness	Modifying germline mutation in	Assessed	HGNC:25481	ENSG00000100416	610230	22q13.31	tRNA mitochondrial 2-thiouridylase	23510774[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	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

13 annotations · validated 2021-02-09

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0001963	Abnormal speech discrimination
HP:0000750	Delayed speech and language development
HP:0008596	Postlingual sensorineural hearing impairment
HP:0000399	Prelingual sensorineural hearing impairment
HP:0011476	Profound sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
Occasional (29-5%)
HP:0007670	Abnormal vestibulo-ocular reflex
HP:0011474	Childhood onset sensorineural hearing impairment
HP:0000405	Conductive hearing impairment
HP:0005101	High-frequency hearing impairment
HP:0012713	Moderate hearing impairment
HP:0012714	Severe hearing impairment
Very rare (<4-1%)
HP:0008573	Low-frequency sensorineural hearing impairment

Annotation source: 20301388[PMID]_16840903[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/87884
This record as JSON: /data/d/87884.json