Otosclerosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Otosclerosis, also known as otospongiosis, is related to ankylosis and brittle bone disorder, and has symptoms including earache An important gene associated with Otosclerosis is OTSC2 (Otosclerosis 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. The drugs Acetylcysteine and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, adrenal cortex and cortex, and related phenotypes are limbs/digits/tail and digestive/alimentary

Wikipedia: ⁷⁵ Otosclerosis is a condition of the middle ear where portions of the dense enchondral layer of the bony... more...

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Related Diseases for Otosclerosis

Diseases in the Otosclerosis family:

Otosclerosis 1	Otosclerosis 2
Otosclerosis 3	Otosclerosis 5
Otosclerosis 4	Otosclerosis 7
Otosclerosis 8	Otosclerosis 10
Otosclerosis, Familial

Diseases related to Otosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 212)

#	Related Disease	Score	Top Affiliating Genes
1	ankylosis	31.2	TNFRSF11B TGFB1 NOG BMP4 BMP2
2	brittle bone disorder	31.2	TNFRSF11B SERPINF1 MEPE COL1A2 COL1A1 BMP4
3	osteogenesis imperfecta, type i	31.0	SERPINF1 COL1A2 COL1A1
4	bone disease	30.9	TNFRSF11B NOG COL1A1 BMP4 BMP2
5	diastrophic dysplasia	30.5	TGFB1 SLC26A2 BMP2
6	proximal symphalangism	30.5	NOG BMP4 BMP2
7	osteogenesis imperfecta, type vi	30.4	SERPINF1 MEPE COL1A2 COL1A1
8	osteoporosis	30.3	TNFRSF11B TGFB1 SLC26A2 NOG MEPE COL1A2
9	osteonecrosis	30.2	TNFRSF11B TGFB1 BMP2
10	synostosis	30.1	NOG BMP4 BMP2
11	osteogenic sarcoma	30.1	TNFRSF11B TGFB1 BMP4 BMP2
12	otosclerosis 1	11.5
13	otosclerosis 5	11.5
14	otosclerosis, familial	11.4
15	otosclerosis 10	11.3
16	otosclerosis 2	11.2
17	otosclerosis 3	11.2
18	otosclerosis 8	11.2
19	otosclerosis 4	11.2
20	otosclerosis 7	11.2
21	deafness, x-linked 2	11.1
22	sensorineural hearing loss	10.9
23	measles	10.6
24	osteogenesis imperfecta, type v	10.5	COL1A2 COL1A1
25	ehlers-danlos/osteogenesis imperfecta syndrome	10.5	COL1A2 COL1A1
26	otitis media	10.5
27	high bone mass osteogenesis imperfecta	10.5	COL1A2 COL1A1
28	glanders	10.4
29	superior semicircular canal dehiscence	10.4
30	breast scirrhous carcinoma	10.4	COL1A2 COL1A1
31	hyperostosis	10.4	TNFRSF11B TGFB1 COL1A1
32	ehlers-danlos syndrome, arthrochalasia type, 1	10.4	COL1A2 COL1A1
33	oral submucous fibrosis	10.4	TGFB1 COL1A2 COL1A1
34	pelvic organ prolapse	10.4	TGFB1 COL1A2 COL1A1
35	van buchem disease	10.4	TGFB1 MEPE COL1A1
36	fibrogenesis imperfecta ossium	10.4	COL1A2 COL1A1
37	bruck syndrome	10.4	SERPINF1 COL1A2 COL1A1
38	scleroderma, familial progressive	10.4	COL1A2 COL1A1
39	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.4
40	cleidocranial dysplasia 1	10.4	COL1A1 BMP4 BMP2
41	osseous heteroplasia, progressive	10.4	NOG BMP4 BMP2
42	meniere disease	10.4
43	osteogenesis imperfecta, type iv	10.4	SERPINF1 COL1A2 COL1A1
44	juvenile polyposis syndrome	10.4	NOG BMP4 BMP2
45	sclerosteosis	10.4	TGFB1 NOG MEPE COL1A1
46	plantar fasciitis	10.4	TGFB1 BMP2
47	cardiomyopathy, familial restrictive, 3	10.4	BMP4 BMP2
48	brachydactyly, type a2	10.4	NOG BMP4 BMP2
49	epicondylitis	10.4	TGFB1 COL1A1
50	endosteal hyperostosis, autosomal dominant	10.4	TNFRSF11B COL1A2 COL1A1 BMP2

Graphical network of the top 20 diseases related to Otosclerosis:

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Symptoms & Phenotypes for Otosclerosis

UMLS symptoms related to Otosclerosis:

earache

MGI Mouse Phenotypes related to Otosclerosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.87	BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
2	digestive/alimentary	MP:0005381	9.86	BMP2 BMP4 COL1A1 NOG RELN SERPINF1
3	craniofacial	MP:0005382	9.7	BMP2 BMP4 COL1A1 NOG SLC26A2 TGFB1
4	skeleton	MP:0005390	9.65	BMP2 BMP4 COL1A1 COL1A2 MEPE NOG
5	vision/eye	MP:0005391	9.28	BMP4 CD46 COL1A1 COL1A2 NOG RELN

Sources

Drugs & Therapeutics for Otosclerosis

Drugs for Otosclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

581 12035

Synonyms:

(2R)-2-ACETAMIDO-3-SULFANYLPROPANOIC ACID

(2R)-2-Acetylamino-3-sulfanylpropanoate

(2R)-2-Acetylamino-3-sulfanylpropanoic acid

(2R)-2-Acetylamino-3-sulphanylpropanoate

(2R)-2-Acetylamino-3-sulphanylpropanoic acid

(R)-2-Acetylamino-3-mercaptopropanoate

(R)-2-Acetylamino-3-mercaptopropanoic acid

(R)-Mercaptate

(R)-Mercaptic acid

(R)-Mercapturic acid

2-[(1-Hydroxyethylidene)amino]-3-sulfanylpropanoate

2-[(1-Hydroxyethylidene)amino]-3-sulphanylpropanoate

2-[(1-Hydroxyethylidene)amino]-3-sulphanylpropanoic acid

2-acetylamino-3-mercapto-Propionate

2-acetylamino-3-mercapto-Propionic acid

5052

Ac pharma brand OF acetylcysteine

ACC

ACC-600

Acebraus

Acemuc

Acetabs

Acetadote

Acetilcisteina

Acetylcystein al

Acetylcystein atid

Acetylcystein heumann

Acetylcystein trom

Acetylcystein, mentopin

Acetylcysteine

Acetylcysteine ac-pharma brand

Acetylcysteine alcon brand

Acetylcysteine aluid brand

Acetylcysteine atid brand

Acetylcysteine azupharma brand

Acetylcysteine betapharm brand

Acetylcysteine bioiberica brand

Acetylcysteine bouchara brand

Acetylcysteine centrafarm brand

Acetylcysteine disphar brand

Acetylcysteine farmasan brand

Acetylcysteine fresenius brand

Acetylcysteine génévrier brand

Acétylcystéine GNR

Acetylcysteine GNR-pharma brand

Acetylcysteine guerbet brand

Acetylcysteine hermes brand

Acetylcysteine heumann brand

Acetylcysteine hydrochloride

Acetylcysteine inpharzam brand

Acetylcysteine intra brand

Acetylcysteine klinge brand

Acetylcysteine krewel brand

Acetylcysteine lichtenstein brand

Acetylcysteine lindopharm brand

Acetylcysteine merck brand

Acetylcysteine oberlin brand

Acetylcysteine pfleger brand

Acetylcysteine pharbita brand

Acetylcysteine roberts brand

Acetylcysteine sodium

Acetylcysteine temmler brand

Acetylcysteine teva brand

Acetylcysteine thiemann brand

Acetylcysteine trommsdorff brand

Acetylcysteine upsa brand

Acetylcysteine whitehall brand

Acetylcysteine zambon brand

Acetylcysteine zinc

Acetylcysteine zyma brand

Acetylcysteine, (D)-isomer

Acetylcysteine, (DL)-isomer

Acetylcysteine, monoammonium salt

Acetylcysteine, monosodium salt

Acetylcysteinum

Acetylin

Acetyst

Acid, mercapturic

Ac-pharma brand OF acetylcysteine

A-CYS

Airbron

Alcon brand OF acetylcysteine

Allen and hanburys brand OF acetylcysteine

Aluid brand OF acetylcysteine

Alveolex

Atid brand OF acetylcysteine

Azubronchin

Azupharma brand OF acetylcysteine

Betapharm brand OF acetylcysteine

Bioiberica brand OF acetylcysteine

Bisolvon nac

Boehringer ingelheim brand OF acetylcysteine

Bouchara brand OF acetylcysteine

Bristol myers squibb brand OF acetylcysteine

Bristol myers squibb brand OF acetylcysteine sodium salt

Bristol-myers squibb brand OF acetylcysteine

Bristol-myers squibb brand OF acetylcysteine sodium salt

Bromuc

broncho Fips

broncho-Fips

BronchoFips

Broncholysin

Broncoclar

Centrafarm brand OF acetylcysteine

CETYLEV

Codotussyl

Cystamucil

dampo Mucopect

Dey brand OF acetylcysteine sodium salt

Disphar brand OF acetylcysteine

Durabronchal

EN-CYS

Eurespiran

Exomuc

Fabrol

Farmasan brand OF acetylcysteine

Fluimicil infantil

Fluimucetin

Fluimucil

FLUIMUCIL 600

FLUIMUCIL LONG

FLUIMUCIL N

Flumucetin

Fluprowit

Frekatuss

Fresenius brand OF acetylcysteine

Genac

Génévrier brand OF acetylcysteine

GNR Pharma brand OF acetylcysteine

GNR-Pharma brand OF acetylcysteine

Guerbet brand OF acetylcysteine

Hermes brand OF acetylcysteine

Heumann brand OF acetylcysteine

Hoestil

Hustengetränk, optipect

Hydrochloride, acetylcysteine

Ilube

Inpharzam brand OF acetylcysteine

Intra brand OF acetylcysteine

Jenacystein

Jenapharm

Klinge brand OF acetylcysteine

Krewel brand OF acetylcysteine

L-a-Acetamido-b-mercaptopropionate

L-a-Acetamido-b-mercaptopropionic acid

L-Acetylcysteine

L-alpha-Acetamido-beta-mercaptopropionate

L-alpha-Acetamido-beta-mercaptopropionic acid

Lantamed

Larylin nac

Lichtenstein brand OF acetylcysteine

Lindocetyl

Lindopharm brand OF acetylcysteine

Lysox

L-Α-acetamido-β-mercaptopropionate

L-Α-acetamido-β-mercaptopropionic acid

m Pectil

Mentopin acetylcystein

Mercaptate

Mercaptic acid

Mercapturic acid

Merck brand OF acetylcysteine

Monoammonium salt acetylcysteine

Monosodium salt acetylcysteine

m-Pectil

MPectil

Muciteran

muco Sanigen

Mucolysin

Mucomyst

Mucopect, dampo

Mucosil

MUCOSIL-10

MUCOSIL-20

Mucosol

Mucosolvin

N Acetyl L cysteine

N Acetylcysteine

NAC

NAC al

NAC zambon

NAC, bisolvon

N-Acetyl-3-mercaptoalanine

N-Acetylcysteine

N-Acety-L-cysteine

N-Acetyl-L-(+)-cysteine

N-Acetyl-L-cysteine

NSC-111180

Oberlin brand OF acetylcysteine

Optipect hustengetränk

ORONAC 600

PARVOLEX

Pfleger brand OF acetylcysteine

Pharbita brand OF acetylcysteine

Produpharm lappe brand OF acetylcysteine

RESPI-NAC

Roberts brand OF acetylcysteine

Roche nicholas brand OF acetylcysteine

Sanigen, muco

Siccoral

Siran

Sodium 2-acetamido-3-mercaptopropionate

Sodium, acetylcysteine

Solmucol

Temmler brand OF acetylcysteine

Teva brand OF acetylcysteine

Thiemann brand OF acetylcysteine

Trommsdorff brand OF acetylcysteine

UPSA brand OF acetylcysteine

Whitehall brand OF acetylcysteine

YOURNAC

Zambon brand OF acetylcysteine

Zambon, nac

Zinc, acetylcysteine

Zyma brand OF acetylcysteine

2

Antiviral Agents

Phase 4

3

Anti-Infective Agents

Phase 4

4

Expectorants

Phase 4

5

Antidotes

Phase 4

6

N-monoacetylcystine

Phase 4

7

Respiratory System Agents

Phase 4

8

Antioxidants

Phase 4

9

Protective Agents

Phase 4

10

Tiludronic acid

Approved, Investigational, Vet_approved

Phase 3

89987-06-4

60937

11

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

Synonyms:

(−)-(R)-epinephrine

(-)-(R)-Epinephrine

(-)-3,4-Dihydroxy-a-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-a-[(methylamino)methyl]-benzyl alcohol

(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol

(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-alpha-[(methylamino)methyl]-benzyl alcohol

(-)-3,4-DIHYDROXY-ALPHA-[(METHYLAMINO)METHYL]BENZYL ALCOHOL(-)-3,4-DIHYDROXY-ALPHA-[(METHYLAMINO)METHYL]-BENZYL ALCOHOL

(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol

(−)-3,4-dihydroxy-α-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-α-((methylamino)methyl)benzyl alcohol

(-)-Adrenaline

(−)-ADRENALINE

(-)-Epinephrine

(+-)-Adrenaline

(+-)-Epinephrine

(R)-(-)-Adnephrine

(R)-(-)-Adrenaline

(R)-(−)-ADRENALINE

(R)-(-)-Epinephrine

(R)-(-)-Epirenamine

(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol

(R)-Adrenaline

(R)-Epinephrine

2-(Methylamino)-1-(3,4-dihydroxyphenyl)ethanol

4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol

4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol

4-[(1R)-1-HYDROXY-2-METHYLAMINOETHYL]BENZENE-1,2-DIOL

4-[(1R)-1-HYDROXY-2-METHYLAMINO-ETHYL]BENZENE-1,2-DIOL

4-[(1R)-1-HYDROXY-2-METHYLAMINO-ETHYL]PYROCATECHOL

Acetate, epinephrine

Adnephrine

ADREN CO

ADRENACLICK

Adrenal

Adrenalin

Adrenaline

Adrénaline

Adrenaline acid tartrate

Adrenaline bitartrate

Adrenaline hydrochloride

Adrenaline hydrochloride, racemic mixture

Adrenaline, racemic

Adrenaline, racemic mixture

adrenaline|epinephrine

Adrenine

Adrin

Allergan brand OF adrenaline hydrochloride

ANA-GUARD

Ana-kit

ANAPEN

ANAPHYLACTIC SHOCK DRUG KIT

ASMA-VYDRIN

ASTHMAHALER

Auvi-Q

Bird brand OF racepinefrine hydrochloride

Bosmin

Bronkaid mist

BROVON

Chelafrin

DL-Adrenaline

EMERADE

EPI E Z PEN JR

Epifrin

Epiglaufrin

Epinefrin

Epinefrina

Epinephran

Epinephrin

EPINEPHRINE

Epinephrine acetate

Epinephrine bitartrate

EPINEPHRINE HCL

Epinephrine hydrochloride

Epinephrine hydrochloride, racemic mixture

Epinephrine hydrogen tartrate

Epinephrine racemic

Epinephrine, racemic

Epinephrine, racemic mixture

Epinephrinum

Epipen

EPIPEN E Z PEN

Epipen JR

EPIPEN JR.

Epirenan

Epitrate

Eppy

Exadrin

Glauposine

GPPE INH SOLN

Hemisine

Hemostasin

Hemostatin

Hydrochloride, racepinephrine

Hypernephrin

Isoptoepinal

JEXT

L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol

L-Adrenaline

L-DETHYLAMINOETHANOLCATECHOL

L-Epinephrine

L-Epirenamine

Levoepinephrine

LEVO-METHYLAMINOETHANOLCATECHOL

Levorenen

Levorenin

Levorenine

Levoreninum

L-Methylaminoethanolcatechol

Lyodrin

Lyophrin

Medihaler-epi

Methylarterenol

Micronefrin

Micronephrine

Mixture adrenaline, racemic

Mixture epinephrine, racemic

Mucidrina

Nephridine

Nieraline

NSC-62786

Paranephrin

Primatene

Primatene mist

R-(-)-Epinephrine

Racemic adrenaline

Racemic epinephrine

Racemic mixture adrenaline

Racemic mixture epinephrine

Racepinefrina

Racepinefrine

Racepinefrinum

Racepinephrine

Racepinephrine hydrochloride

Renaglandin

Renaleptine

Renalina

Renoform

Renostypticin

Renostyptin

RIDDOBRON

RIDDOFAN

RYBARVIN

Scurenaline

Simplene

SOLN MADE TO RYBARVIN FOR

Styptirenal

Supracapsulin

Supranephrane

Suprarenaline

Suprarenin

Surrenine

Sus-phrine

SUS-PHRINE SULFITE FREE

SUS-PHRINE SULFITE-FREE

SYMJEPI

Takamina

TWINJECT

TWINJECT 0.15

TWINJECT 0.3

Vaponefrin

Vasoconstrictine

Vasotonin

12

Lidocaine

Approved, Vet_approved

137-58-6

3676

13

Epinephryl borate

14

Anesthetics, Local

15

Anesthetics, General

16

Anesthetics

17

Narcotics

Interventional clinical trials:

(show all 14)

#	Name	Status	NCT ID	Phase	Drugs
1	Acetylcystein Vid Stapedotomi	Completed	NCT00525551	Phase 4	Acetylcysteine;Placebo (NaCl)
2	Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis	Terminated	NCT01617057	Phase 3	tiludronic acid;Placebo
3	Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease	Unknown status	NCT00222417
4	Patient Satisfaction After Surgery for Otosclerosis Under Local ou General Anesthesia	Completed	NCT03888079		Local anesthetic;general anesthetic
5	Study of Binaural Squelch Effect Among Patients Undergoing Unilateral Otosclerosis Surgery: Comparison of Understanding in Noise Before-after Surgery	Completed	NCT03587792
6	Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study	Completed	NCT02456272
7	Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome	Completed	NCT02901093
8	Endoscopic Stapedotomy: Classic Versus Reversal Technique	Completed	NCT05554796
9	Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively")	Completed	NCT02554422
10	Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans	Completed	NCT02019888
11	Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose	Completed	NCT01855425
12	Validation of the French Version of the Stapesplasty Outcome Test 25 (SPOT-25)	Completed	NCT04908839
13	Cone Beam vs MDCT for Diagnosis and Pre-operative Evaluation of Otosclerosis	Terminated	NCT05214053
14	Comparison of Cone Beam With CT Scan for the Diagnosis of Otosclerosis	Terminated	NCT02435446

Search NIH Clinical Center for Otosclerosis

Cochrane evidence based reviews: otosclerosis

Sources

Genetic Tests for Otosclerosis

Genetic tests related to Otosclerosis:

#	Genetic test	Affiliating Genes
1	Otosclerosis ²⁸

Sources

Anatomical Context for Otosclerosis

Organs/tissues related to Otosclerosis:

MalaCards : Bone, Adrenal Cortex, Cortex, Pineal, Skin, Thyroid, Eye

Sources

Publications for Otosclerosis

Articles related to Otosclerosis:

(show top 50) (show all 3985)

#	Title	Authors	PMID	Year
1	Genetics of otosclerosis. ⁵³ ⁶²	Thys M...Van Camp G	19546831	2009
2	Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. ⁵³ ⁶²	Emery SB...Lesperance MM	19471170	2009
3	Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. ⁵³ ⁶²	Thys M...van Camp G	19207109	2009
4	Otosclerosis and TGF-beta 1 gene in black South Africans. ⁵³ ⁶²	Tshifularo M...Joseph CA	19113055	2008
5	Association of bone morphogenetic proteins with otosclerosis. ⁵³ ⁶²	Schrauwen I...Van Camp G	18021008	2008
6	Medical treatment of otosclerosis: rationale for use of bisphosphonates. ⁵³ ⁶²	Brookler K	19205157	2008
7	The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. ⁵³ ⁶²	Thys M...Van Camp G	17588962	2007
8	Clinical and genetic analysis of two Tunisian otosclerosis families. ⁵³ ⁶²	Ali IB...Camp GV	17568407	2007
9	Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. ⁵³ ⁶²	Chen W...Smith RJ	17489845	2007
10	Current research in otosclerosis. ⁵³ ⁶²	Stankovic KM...McKenna MJ	16974150	2006
11	Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. ⁵³ ⁶²	Imauchi Y...Grayeli AB	16954997	2006
12	Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. ⁵³ ⁶²	Iliadou V...Petersen MB	16168495	2006
13	Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. ⁵³ ⁶²	Imauchi Y...Bozorg Grayeli A	15513522	2004
14	Association between osteoporosis and otosclerosis in women. ⁵³ ⁶²	Clayton AE...McKenna MJ	15453937	2004
15	Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. ⁵³ ⁶²	McKenna MJ...Kristiansen AG	15241219	2004
16	Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. ⁵³ ⁶²	Rodriguez L...Zapata C	15211650	2004
17	Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. ⁵³ ⁶²	Grayeli AB...Ferrary E	14600463	2003
18	Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. ⁵³ ⁶²	Brown DJ...Lesperance MM	12089654	2002
19	Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. ⁵³ ⁶²	McKenna MJ...Tropitzsch AS	11860074	2002
20	Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. ⁵³ ⁶²	McKenna MJ...Haines JL	9752968	1998
21	Phenotype of in vitro human otosclerotic cells and its modulation by TGF beta. ⁵³ ⁶²	Bodo M...Carinci P	8747085	1995
22	Antibodies to the minor cartilage collagen type IX in otosclerosis. ⁵³ ⁶²	Bujia J...Burmester G	8172305	1994
23	PORP vs. TORP in children: A systematic review and meta-analysis. ⁶²	Omar M...Chi DH	36347062	2023
24	Comparison of different oval window sealing materials in stapes surgery: systematic review and meta-analysis. ⁶²	Scarpa A...Corbi GM	35857099	2022
25	Role of the endoscope in cochlear implantation: A systematic review. ⁶²	Poutoglidis A...Tsetsos N	34971491	2022
26	Ossicular osteoma of the malleus-A rare diagnosis of middle ear mass. ⁶²	Sievert M...Wiesmueller M	36188094	2022
27	Are there differences in revision stapes surgery outcomes between university and county clinics? A study from the quality register for otosclerosis surgery in Sweden. ⁶²	Pauli N...Dahlin-Redfors Y	36367582	2022
28	[Role of computed tomography in the preoperative diagnosis of otosclerosis]. ⁶²	Stenz NA...Linder T	36326852	2022
29	Management of Juvenile Otosclerosis: A Systematic Review. ⁶²	Fancello V...Palma S	36421236	2022
30	"Hot" vs "Cold" endoscopic stapes surgery: a matched case-control study. ⁶²	Molinari G...Lucidi D	36380092	2022
31	Wideband Acoustic Absorbance in Otosclerosis: Does Stapedotomy Restore Normal Tympanic Cavity Function? ⁶²	Durante AS...Neto OMS	36405486	2022
32	Preoperative Evaluation of Otosclerosis: A National Survey of Otologists. ⁶²	Doerfer KW...Babu SC	36047701	2022
33	Otopathologic and Computed Tomography Correlation of Internal Auditory Canal Diverticula in Otosclerosis. ⁶²	Wells D...Quesnel AM	36075107	2022
34	The effect of female hormone in otosclerosis. A comparative study and speculation about their effect on the ossicular chain based on the clinical results. ⁶²	Ricci G...Di Stadio A	35187596	2022
35	The Case Against Stapedectomy as a Core Competency for General Practice: A Study of Care Patterns in the Department of Defense. ⁶²	Adams JK...Erbele ID	36006782	2022
36	Long-Term Audiometric Outcomes of a Self-Crimping Stapes Prosthesis With CO 2 Laser Stapedotomy. ⁶²	Shoman NM	36026603	2022
37	Removal and Repositioning of a Piston Wire Prosthesis That Entered the Vestibule Secondary to Trauma in a Patient Who Underwent Stapedotomy. ⁶²	Koh SM...Cho YS	35196444	2022
38	The Effects of Middle-ear Stiffness on the Auditory Brainstem Neural Encoding of Phase. ⁶²	Racca JM...Hood LJ	36214911	2022
39	Improved Bone Conduction Hearing after Middle Ear Surgery: Investigation of the Improvement Mechanism. ⁶²	Kim H...Choung YH	36330708	2022
40	Wideband Tympanometry: Normative Data for Young Iranian Adults. ⁶²	Habibi Z...Nilforoush MH	36137525	2022
41	The Spatial Distribution of Cellular Voids in the Human Otic Capsule: An Unbiased Quantification of Osteocyte-Depleted Areas. ⁶²	Hansen LJ...Sorensen MS	35941668	2022
42	Do CT values change over time and correlate with hearing in the non-surgical ears of otosclerosis patients? ⁶²	Chen W...Sha Y	36093598	2022
43	Audiologic comparison of classification systems of advanced otosclerosis. ⁶²	Conway RM...Schutt CA	35714498	2022
44	Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I. ⁶²	Niu Z...Tang A	35855543	2022
45	Automatic Prediction of Conductive Hearing Loss Using Video Pneumatic Otoscopy and Deep Learning Algorithm. ⁶²	Byun H...Cho YS	35344974	2022
46	Cochlear Implantation in Far Advanced Otosclerosis: A Systematic Review and Meta-Analysis. ⁶²	Kondo M...Patel NP	36082830	2022
47	Feasibility of CBCT in Diagnosing Otosclerosis by Measuring CBCT Bone Density: A Preliminary Study. ⁶²	Izadparast Y...Moradi A	36213485	2022
48	Endoscopic Ear Surgery: Our Experience. ⁶²	Nair S...Aishwarya JG	36032880	2022
49	Revision Stapes Surgery: Hearing Symptoms and Associations With Intraoperative Findings and Outcomes. ⁶²	Luryi AL...Schutt CA	34846954	2022
50	RESPONSE TO LETTER TO THE EDITOR: "OUTCOMES OF STAPEDOTOMY IN PATIENTS WITH CONCOMITANT OTOSCLEROSIS AND SUPERIOR SEMICIRCULAR CANAL DEHISCENCE: SHOULD A RADIOGRAPHIC THIRD-WINDOW BE A CONTRAINDICATION TO STAPES SURGERY?" ⁶²	Sioshansi PC...Schutt CA	35878648	2022

Sources

Genes for Otosclerosis

Genes related to Otosclerosis (8 elite genes):

(show top 50) (show all 60)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	OTSC2	Otosclerosis 2	Genetic Locus	66.82	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
2	OTSC5	Otosclerosis 5	Genetic Locus	66.82	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
3	OTSC1	Otosclerosis 1	Genetic Locus	66.61	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
4	OTSC7	Otosclerosis 7	Genetic Locus	66.61	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
5	OTSC10	Otosclerosis 10	Genetic Locus	66.31	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
6	OTSC3	Otosclerosis 3	Genetic Locus	66.31	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
7	OTSC4	Otosclerosis 4	Genetic Locus	66.31	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
8	OTSC8	Otosclerosis 8	Genetic Locus	66.31	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
9	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	23.41	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11860074 15241219 9752968 (more) 17489845 16168495 15211650 15453937
10	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	21.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17568407 16168495 15211650
11	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	20.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15513522 16954997 14600463
12	NOG	Noggin	Protein Coding	19.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16168495 19471170 12089654
13	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	18.65	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19205157 16974150
14	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	18.19	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19207109 17588962 19113055 (more) 19546831 8747085 18021008
15	RELN	Reelin	Protein Coding	15.67	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	BMP4	Bone Morphogenetic Protein 4	Protein Coding	13.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	BMP2	Bone Morphogenetic Protein 2	Protein Coding	13.87	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	SERPINF1	Serpin Family F Member 1	Protein Coding	13.37	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	CD46	CD46 Molecule	Protein Coding	13.07	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	MEPE	Matrix Extracellular Phosphoglycoprotein	Protein Coding	12.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	ACE	Angiotensin I Converting Enzyme	Protein Coding	12.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	AGT	Angiotensinogen	Protein Coding	12.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	FOXL1	Forkhead Box L1	Protein Coding	11.76	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	CD36	CD36 Molecule	Protein Coding	10.67	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8172305 9752968
25	PON1	Paraoxonase 1	Protein Coding	10.52	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	IL6	Interleukin 6	Protein Coding	10.39	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	AGTR1	Angiotensin II Receptor Type 1	Protein Coding	7.93	GeneCards inferred via : Publications (show sections)
28	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	7.42	GeneCards inferred via : Publications (show sections)
29	KLF9	KLF Transcription Factor 9	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
30	SP1	Sp1 Transcription Factor	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
31	TJP2	Tight Junction Protein 2	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
32	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
33	VDR	Vitamin D Receptor	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
34	GJB2	Gap Junction Protein Beta 2	Protein Coding	6.16	DISEASES inferred ¹⁴
35	COCH	Cochlin	Protein Coding	5.76	DISEASES inferred ¹⁴
36	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	5.53	DISEASES inferred ¹⁴
37	PYURF	PIGY Upstream Open Reading Frame	Protein Coding	5.41	DISEASES inferred ¹⁴
38	CCDC154	Coiled-Coil Domain Containing 154	Protein Coding	5.37	DISEASES inferred ¹⁴
39	OTOF	Otoferlin	Protein Coding	5.35	DISEASES inferred ¹⁴
40	GDF6	Growth Differentiation Factor 6	Protein Coding	5.31	DISEASES inferred ¹⁴
41	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	5.28	DISEASES inferred ¹⁴
42	MYO15A	Myosin XVA	Protein Coding	5.24	DISEASES inferred ¹⁴
43	GJB6	Gap Junction Protein Beta 6	Protein Coding	5.23	DISEASES inferred ¹⁴
44	ATOH1	Atonal BHLH Transcription Factor 1	Protein Coding	5.23	DISEASES inferred ¹⁴
45	CCDC59	Coiled-Coil Domain Containing 59	Protein Coding	5.23	DISEASES inferred ¹⁴
46	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	5.19	DISEASES inferred ¹⁴
47	LOC105371277	Uncharacterized LOC105371277	RNA Gene	5.18	DISEASES inferred ¹⁴
48	POU3F4	POU Class 3 Homeobox 4	Protein Coding	5.13	DISEASES inferred ¹⁴
49	CTDSP2	CTD Small Phosphatase 2	Protein Coding	5.05	DISEASES inferred ¹⁴
50	CCDC106	Coiled-Coil Domain Containing 106	Protein Coding	5.03	DISEASES inferred ¹⁴

Sources

Variations for Otosclerosis

Sources

Expression for Otosclerosis

Search GEO for disease gene expression data for Otosclerosis.

Sources

Pathways for Otosclerosis

Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 23)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.87	BMP2 BMP4 COL1A1 COL1A2 MEPE TGFB1
2	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.52	TGFB1 COL1A2 COL1A1 BMP4 BMP2
3	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.3	TGFB1 NOG BMP4 BMP2
4	Signaling by TGFB family members ⁶⁶ Show member pathways Antagonism of Activin by Follistatin ⁶⁶ Signaling by Activin ⁶⁶ Signaling by TGF-beta Receptor Complex ⁶⁶ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁶	12.22	TGFB1 NOG COL1A2 BMP2
5	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.91	TGFB1 NOG BMP4
6	Adipogenesis ⁷⁴	11.9	TGFB1 BMP4 BMP2
7	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	11.82	TGFB1 NOG BMP4
8	Senescence and autophagy in cancer ⁷⁴	11.78	TGFB1 COL1A1 BMP2
9	CCL18 signaling pathway ⁷⁴	11.73	TGFB1 COL1A2 COL1A1
10	Overlap between signal transduction pathways contributing to LMNA laminopathies ⁷⁴ Show member pathways Influence of laminopathies on Wnt signaling ⁷⁴	11.71	TNFRSF11B TGFB1 BMP2
11	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.62	TGFB1 BMP4 BMP2
12	Burn wound healing ⁷⁴	11.56	TGFB1 COL1A2 COL1A1
13	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.43	TGFB1 NOG BMP4 BMP2
14	NRP1-triggered signaling pathways in pancreatic cancer ⁷⁴	11.36	TGFB1 COL1A2 COL1A1
15	Cardiac progenitor differentiation ⁷⁴	11.33	TGFB1 NOG BMP4
16	Pluripotent stem cell differentiation pathway ⁷⁴	11.26	TGFB1 NOG BMP4
17	Clock-controlled autophagy in bone metabolism ⁷⁴	11	TNFRSF11B TGFB1 SERPINF1 MEPE BMP4 BMP2
18	Syndecan-1-mediated signaling events ⁶¹	10.97	TGFB1 COL1A2 COL1A1
19	Angiotensin II receptor type 1 pathway ⁷⁴	10.88	TGFB1 COL1A2 COL1A1
20	Interactions between LOXL4 and oxidative stress pathway ⁷⁴	10.85	TGFB1 BMP2
21	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	10.78	TNFRSF11B SERPINF1 COL1A2 COL1A1
22	G-protein signaling_Rap2B regulation pathway ²²	10.75	BMP2 BMP4 COL1A1 COL1A2 MEPE TGFB1
23	Bone morphogenic protein signaling and regulation ⁷⁴	10.63	NOG BMP2

Sources

GO Terms for Otosclerosis

Cellular components related to Otosclerosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix	GO:0031012	9.4	TNFRSF11B TGFB1 RELN MEPE COL1A2 COL1A1
2	collagen type I trimer	GO:0005584	9.26	COL1A2 COL1A1

Biological processes related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 45)

#	Name	GO ID	Score	Top Affiliating Genes
1	osteoblast differentiation	GO:0001649	10.2	BMP2 BMP4 COL1A1 NOG
2	epithelial to mesenchymal transition	GO:0001837	10.11	TGFB1 NOG BMP2
3	SMAD protein signal transduction	GO:0060395	10.08	TGFB1 BMP4 BMP2
4	odontogenesis of dentin-containing tooth	GO:0042475	10.07	TGFB1 BMP4 BMP2
5	chondrocyte differentiation	GO:0002062	10.06	TGFB1 BMP4 BMP2
6	blood vessel development	GO:0001568	10.06	BMP4 COL1A1 COL1A2
7	negative regulation of cell cycle	GO:0045786	10.05	TGFB1 BMP4 BMP2
8	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	10.04	TGFB1 BMP4 BMP2
9	negative regulation of gene expression	GO:0010629	10.03	TGFB1 SERPINF1 NOG CD46 BMP4 BMP2
10	positive regulation of bone mineralization	GO:0030501	10.01	TGFB1 BMP4 BMP2
11	cartilage development	GO:0051216	10	NOG BMP4 BMP2
12	pharyngeal arch artery morphogenesis	GO:0061626	9.99	NOG BMP4
13	embryonic skeletal joint morphogenesis	GO:0060272	9.99	NOG BMP4
14	embryonic skeletal system development	GO:0048706	9.99	NOG COL1A1 BMP4
15	epithelial cell proliferation	GO:0050673	9.97	TGFB1 NOG BMP4
16	cellular response to BMP stimulus	GO:0071773	9.97	NOG BMP4 BMP2
17	ossification	GO:0001503	9.97	SLC26A2 COL1A1 BMP4 BMP2
18	membranous septum morphogenesis	GO:0003149	9.96	NOG BMP4
19	regulation of odontogenesis of dentin-containing tooth	GO:0042487	9.95	BMP4 BMP2
20	positive regulation of miRNA transcription	GO:1902895	9.95	TGFB1 BMP4 BMP2
21	telencephalon regionalization	GO:0021978	9.93	BMP2 BMP4
22	regulation of protein import into nucleus	GO:0042306	9.92	TGFB1 BMP4
23	face morphogenesis	GO:0060325	9.92	TGFB1 NOG COL1A1
24	ameloblast differentiation	GO:0036305	9.91	BMP4 BMP2
25	BMP signaling pathway	GO:0030509	9.91	BMP2 BMP4 NOG TGFB1
26	ureteric bud development	GO:0001657	9.88	TGFB1 NOG BMP4
27	prostatic bud formation	GO:0060513	9.88	NOG BMP4
28	cellular response to growth factor stimulus	GO:0071363	9.86	TGFB1 BMP4 BMP2
29	positive regulation of epithelial cell differentiation	GO:0030858	9.86	BMP4 BMP2
30	forebrain development	GO:0030900	9.85	BMP4 NOG RELN
31	mesenchymal cell differentiation	GO:0048762	9.85	NOG BMP2
32	common-partner SMAD protein phosphorylation	GO:0007182	9.81	BMP4 TGFB1
33	mesenchymal cell proliferation involved in ureteric bud development	GO:0072138	9.81	BMP4 BMP2
34	positive regulation of miRNA maturation	GO:1903800	9.8	BMP4 TGFB1
35	endoderm development	GO:0007492	9.78	TGFB1 NOG BMP4
36	positive regulation of SMAD protein signal transduction	GO:0060391	9.77	TGFB1 BMP4 BMP2
37	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.76	BMP2 BMP4 COL1A1 TGFB1
38	positive regulation of odontogenesis	GO:0042482	9.72	BMP2 TGFB1
39	cardiac jelly development	GO:1905072	9.71	BMP2 BMP4
40	BMP signaling pathway involved in heart induction	GO:0003130	9.71	BMP4 BMP2
41	regulation of cartilage development	GO:0061035	9.56	TGFB1 BMP4
42	regulation of miRNA transcription	GO:1902893	9.46	TGFB1 BMP4
43	skeletal system development	GO:0001501	9.44	TNFRSF11B NOG MEPE COL1A2 COL1A1 BMP4
44	BMP signaling pathway involved in heart development	GO:0061312	9.43	NOG BMP4 BMP2
45	specification of segmental identity, mandibular segment	GO:0042305	9.32	NOG BMP4

Sources

Sources for Otosclerosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OTS001 MIFTS: 50	Otosclerosis Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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