MCID: OTS001
MIFTS: 48

Otosclerosis malady

Categories: Genetic diseases, Ear diseases, Rare diseases

Aliases & Classifications for Otosclerosis

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Aliases & Descriptions for Otosclerosis:

Name: Otosclerosis 10 22 47 12 24 65

Classifications:



External Ids:

Disease Ontology10 DOID:12185
ICD9CM29 387.8
UMLS65 C0029696, C0029899

Summaries for Otosclerosis

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Wikipedia:68 Otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear. It can result in... more...

MalaCards based summary: Otosclerosis is related to atherosclerosis and pseudopseudohypoparathyroidism. An important gene associated with Otosclerosis is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, brain and breast, and related mouse phenotypes are integument and muscle.

Disease Ontology:10 A labyrinthine disease characterized by an abnormal bone growth in the middle ear.

Related Diseases for Otosclerosis

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Diseases in the Otosclerosis family:

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

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

(show top 50)    (show all 409)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.5BMP2, NOG
2pseudopseudohypoparathyroidism29.2BMP2, BMP4, NOG
3otosclerosis 112.5
4otosclerosis 1012.4
5otosclerosis 512.3
6otosclerosis 312.3
7otosclerosis 712.3
8otosclerosis 212.3
9otosclerosis 812.3
10otosclerosis 412.3
11otosclerosis, familial12.2
12laryngeal tuberculosis10.4COL1A1, TGFB1
13ichthyosis with confetti10.4COL1A1, TGFB1
14buschke-ollendorff syndrome10.4
15dysgraphia10.3COL1A1, RELN
16congenital trigeminal anesthesia10.3COL1A1, COL1A2
17immunodeficiency 28, mycobacteriosis10.3NOG, TGFB1
18col4a1-related disorders10.3COL1A1, COL1A2
19idiopathic linear interstitial keratitis10.3COL1A1, COL1A2
20eif4g1-related parkinson disease10.3COL1A1, COL1A2
21breast cancer10.3
22leukemia10.3
23osteogenesis imperfecta, type iv10.3COL1A1, COL1A2
24autosomal dominant microcephaly10.3COL1A1, COL1A2
25caffey disease10.3COL1A1, COL1A2
26hepatitis10.3
27endotheliitis10.3
28ehlers-danlos syndrome, cardiac valvular form10.3COL1A1, COL1A2
29mental retardation, autosomal recessive 3510.3COL1A1, COL1A2
30giant hemangioma10.3COL1A1, TGFB1
31osteogenesis imperfecta, type ii10.3COL1A1, COL1A2
32lymphoma10.3
33osteogenesis imperfecta, type iii10.3COL1A1, COL1A2
34lymph node adenoid cystic carcinoma10.3COL1A1, COL1A2
35ehlers-danlos syndrome, classic type10.2COL1A1, COL1A2
36cerebritis10.2
37branchiootic syndrome10.2COL1A1, COL1A2
38sclerocornea10.2COL1A1, NOG
39esophagitis10.2
40anterior cruciate ligament tears10.2COL1A1, COL1A2
41arthritis10.2
42pancreatitis10.2
43depressed scar10.2COL1A1, COL1A2
44colorectal cancer10.1
45lung cancer10.1
46gastric cancer10.1
47adenocarcinoma10.1
48retinitis10.1
49neuronitis10.1
50aneurysm10.1

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Symptoms for Otosclerosis

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Drugs & Therapeutics for Otosclerosis

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 4293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
2Protective AgentsPhase 45651
3Respiratory System AgentsPhase 43931
4ExpectorantsPhase 4337
5N-monoacetylcystinePhase 4293
6Antiviral AgentsPhase 48071
7Anti-Infective AgentsPhase 417220
8AntioxidantsPhase 42442
9Tiludronic acidPhase 32
10Bone Density Conservation AgentsPhase 32600
11DiphosphonatesPhase 3381

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Acetylcysteine in Patients Undergoing Surgery for OtosclerosisCompletedNCT00525551Phase 4
2Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot StudyRecruitingNCT02456272Phase 3
3Audiometric Parameters in Conductive Hearing Loss and Middle Ear DiseaseActive, not recruitingNCT00222417Phase 2, Phase 3
4Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced OtosclerosisTerminatedNCT01617057Phase 3
5Cone Beam and CT Scan for the Diagnosis of Otosclerosis (TACOS)Enrolling by invitationNCT02435446Phase 1
6Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower DoseCompletedNCT01855425
7Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument IntraoperativelyCompletedNCT02554422
8Clinical Assessment of the External Sound Processor Worn by Patients Implanted With CodacsCompletedNCT02156167
9Taste Disorders in Middle Ear Disease and After Middle Ear SurgeryRecruitingNCT01584011
10Comprehensive Wide Bandwidth Test Battery of Auditory Function in VeteransEnrolling by invitationNCT02019888

Search NIH Clinical Center for Otosclerosis

Genetic Tests for Otosclerosis

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Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis22

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

33
Bone, Brain, Breast, Testes, T cells, Lung, Heart

Animal Models for Otosclerosis or affiliated genes

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MGI Mouse Phenotypes related to Otosclerosis:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3BMP4, COL1A1, COL1A2, NOG, RELN, TGFB1
2MP:00053698.1BMP4, COL1A1, COL1A2, NOG, RELN, TGFB1
3MP:00053718.0BMP2, BMP4, COL1A1, COL1A2, NOG, SLC26A2
4MP:00053777.9BMP2, BMP4, COL1A1, NOG, TNFRSF11B
5MP:00053817.9BMP2, BMP4, COL1A1, NOG, RELN, TGFB1
6MP:00053917.8BMP4, CD46, COL1A1, NOG, RELN, TGFB1
7MP:00053827.6BMP2, BMP4, COL1A1, NOG, SLC26A2, TGFB1
8MP:00053897.2BMP2, BMP4, CD46, COL1A1, NOG, RELN
9MP:00053907.1BMP2, BMP4, COL1A1, COL1A2, NOG, SLC26A2
10MP:00053846.9BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
11MP:00107686.7BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
12MP:00053786.6BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
13MP:00053856.5BMP2, BMP4, CD46, COL1A1, COL1A2, NOG

Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
USP7 is essential for maintaining Rad18 stability and DNA damage tolerance. (25961918)
2016
2
Survival in familial and non-familial breast cancer by age and stage at diagnosis. (26630529)
2016
3
Melatonin, minocycline and ascorbic acid reduce oxidative stress and viral titers and increase survival rate in experimental Venezuelan equine encephalitis. (26168898)
2015
4
Alcohol drinking pattern and risk of alcoholic liver cirrhosis: A prospective cohort study. (25634330)
2015
5
Identification of microRNAs specific for epithelial cell adhesion molecule-positive tumor cells in hepatocellular carcinoma. (25953724)
2015
6
A case of transient acquired C1 inhibitor deficiency. (24950848)
2014
7
Transformation of quiescent adult oligodendrocyte precursor cells into malignant glioma through a multistep reactivation process. (25246577)
2014
8
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
9
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. (25099957)
2014
10
Jaccoud's arthropathy. (23290493)
2013
11
H3 stalk-based chimeric hemagglutinin influenza virus constructs protect mice from H7N9 challenge. (24307585)
2013
12
A relationship between Pseudomonal growth behaviour and cystic fibrosis patient lung function identified in a metabolomic investigation. (24367285)
2013
13
Discordant presentation of biliary atresia in premature monozygotic twins. (22847464)
2013
14
Spuriously high prevalence of prediabetes diagnosed by HbA(1c) in young indians partly explained by hematological factors and iron deficiency anemia. (22323413)
2012
15
TGF-beta 1 codon 10 polymorphism is associated with cerebral SVD. (22030425)
2011
16
Emergence, spread, persistence and fade-out of sylvatic plague in Kazakhstan. (21345866)
2011
17
Kaposi's sarcoma-associated herpesvirus viral protein kinase interacts with RNA helicase a and regulates host gene expression. (20437153)
2010
18
HOXA13 promotes cancer cell growth and predicts poor survival of patients with esophageal squamous cell carcinoma. (19491265)
2009
19
Hypoxia-induced alveolar epithelial-mesenchymal transition requires mitochondrial ROS and hypoxia-inducible factor 1. (19801454)
2009
20
Re: Adenocarcinoma arising in a background of chronic atrophic pouchitis in an ileoanal pouch for ulcerative colitis. (19302532)
2009
21
Importance of thymidine phosphorylase, dihydropyrimidine dehydrogenase and thymidylate synthase expression at the invasive front of T3 rectal cancer as prognostic factors. (18613375)
2008
22
Influences of haemodialysis on the binding sites of human serum albumin: possibility of an efficacious administration plan using binding inhibition. (18390890)
2008
23
Synergistic effects between 561A > C and 98G > T polymorphisms of E-selectin gene and hypercholesterolemia in determining the susceptibility to coronary artery disease. (18649056)
2008
24
Regulation of HAS expression in human synovial lining cells of TMJ by IL-1beta. (17868639)
2008
25
Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. (17366518)
2007
26
Thrombin generation by exposure of blood to endotoxin: a simple model to study disseminated intravascular coagulation. (16708116)
2006
27
Cranial thickness in superior canal dehiscence syndrome: implications for canal resurfacing surgery. (16639273)
2006
28
Visualization of telomerase reverse transcriptase (hTERT) promoter activity using a trimodality fusion reporter construct. (16455633)
2006
29
An audit of the use of magnesium sulphate in severe pre-eclampsia and eclampsia. (16147685)
2005
30
Neurotrophic factor receptor expression and in vitro nerve growth of geniculate ganglion neurons that supply divergent nerves. (16137986)
2005
31
Transcriptional regulation of agouti-related protein (Agrp) in transgenic mice. (15345681)
2004
32
The -1438A/G polymorphism in the 5-hydroxytryptamine type 2A receptor gene affects promoter activity. (15364038)
2004
33
Suppression of invasion in human U87 glioma cells by adenovirus-mediated co-transfer of TIMP-2 and PTEN gene. (15363547)
2004
34
Molecular mechanisms involved in the growth stimulation of breast cancer cells by leptin. (15313931)
2004
35
Recombinant human (rh) stem cell factor and rhIL-4 stimulate differentiation and proliferation of CD3+ cells from umbilical cord blood and CD3+ cells enhance FcepsilonR1 expression on fetal liver-derived mast cells in the presence of rhIL-4. (14746805)
2003
36
Differentiation between recurrent tumor and radiation necrosis in a child with anaplastic ependymoma after chemotherapy and radiation therapy. (14652670)
2003
37
Epstein-Barr virus nuclear antigen 3C and prothymosin alpha interact with the p300 transcriptional coactivator at the CH1 and CH3/HAT domains and cooperate in regulation of transcription and histone acetylation. (11967287)
2002
38
Erythromelalgia: new theories and new therapies. (11050591)
2000
39
The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. (9874796)
1999
40
Pancreatic exocrine and endocrine function after pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy. (10193259)
1998
41
Activated RhoA stimulates c-fos gene expression in myocardial cells. (9351440)
1997
42
S100A1 and S100B expression and target proteins in type I diabetes. (9389498)
1997
43
Decidual renin secretion is modulated by endothelial cells. (8796769)
1996
44
Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction. (8541160)
1995
45
Discovery of potent cyclic GMP phosphodiesterase inhibitors. 2-Pyridyl- and 2-imidazolylquinazolines possessing cyclic GMP phosphodiesterase and thromboxane synthesis inhibitory activities. (7658441)
1995
46
Pituitary adenomas: serum hormone levels and immunohistochemical staining for ACTH, GH and prolactin. (8386600)
1993
47
Treatment of murine pulmonary blastomycosis with SCH 39304, a new triazole antifungal agent. (2360825)
1990
48
Release of neuropeptide Y and noradrenaline from the human heart after aortic occlusion during coronary artery surgery. (2346958)
1990
49
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. (3128691)
1988
50
Intracranial microvascular decompression for "cryptogenic" hemifacial spasm, trigeminal and glossopharyngeal neuralgia, paroxysmal vertigo and tinnitus: I. Surgical technique and results. (3733416)
1986

Variations for Otosclerosis

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Expression for genes affiliated with Otosclerosis

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Search GEO for disease gene expression data for Otosclerosis.

Pathways for genes affiliated with Otosclerosis

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Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.9COL1A1, COL1A2
29.9COL1A1, COL1A2
39.9COL1A1, COL1A2
49.9COL1A1, COL1A2
59.8COL1A1, TNFRSF11B
69.4COL1A1, COL1A2, TGFB1
79.4COL1A1, COL1A2, TGFB1
8
Show member pathways
9.3COL1A1, COL1A2, RELN
99.3BMP2, BMP4
109.1BMP2, COL1A1, TGFB1
119.1BMP4, NOG, TGFB1
129.1BMP4, NOG, TGFB1
139.1BMP4, NOG, TGFB1
148.9BMP2, BMP4, TGFB1
158.9BMP2, BMP4, TGFB1
16
Show member pathways
8.9BMP2, BMP4, TGFB1
178.9BMP2, BMP4, TGFB1
188.5BMP2, BMP4, NOG, TGFB1
19
Show member pathways
8.5BMP2, BMP4, NOG, TGFB1
20
Show member pathways
8.5BMP2, BMP4, NOG, TGFB1
21
Show member pathways
8.5BMP2, BMP4, NOG, TGFB1
22
Show member pathways
8.3BMP2, BMP4, COL1A1, COL1A2, TGFB1
23
Show member pathways
8.3BMP2, BMP4, COL1A1, COL1A2, TGFB1

GO Terms for genes affiliated with Otosclerosis

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.9COL1A1, COL1A2

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

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3NOG, TGFB1
2endochondral ossificationGO:000195810.3BMP4, COL1A1
3common-partner SMAD protein phosphorylationGO:000718210.2BMP4, TGFB1
4regulation of cartilage developmentGO:006103510.2BMP4, TGFB1
5embryonic skeletal joint morphogenesisGO:006027210.1BMP4, NOG
6regulation of protein import into nucleusGO:004230610.1BMP4, TGFB1
7pituitary gland developmentGO:002198310.1BMP4, NOG
8skin morphogenesisGO:004358910.1COL1A1, COL1A2
9positive regulation of SMAD protein import into nucleusGO:006039110.1BMP4, TGFB1
10positive regulation of epithelial cell proliferationGO:005067910.1BMP4, NOG
11pathway-restricted SMAD protein phosphorylationGO:006038910.0BMP2, TGFB1
12negative regulation of myoblast differentiationGO:004566210.0BMP4, TGFB1
13BMP signaling pathway involved in heart inductionGO:000313010.0BMP2, BMP4
14positive regulation of cartilage developmentGO:006103610.0BMP2, BMP4
15mesoderm formationGO:000170710.0BMP4, NOG
16cellular response to BMP stimulusGO:007177310.0BMP4, NOG
17mesenchymal cell proliferation involved in ureteric bud developmentGO:00721389.9BMP2, BMP4
18regulation of odontogenesis of dentin-containing toothGO:00424879.9BMP2, BMP4
19hematopoietic progenitor cell differentiationGO:00022449.9BMP4, TGFB1
20positive regulation of bone mineralizationGO:00305019.9BMP4, TGFB1
21telencephalon developmentGO:00215379.9BMP2, BMP4
22positive regulation of ossificationGO:00457789.8BMP2, BMP4
23face morphogenesisGO:00603259.8COL1A1, NOG, TGFB1
24platelet activationGO:00301689.8COL1A1, COL1A2, TGFB1
25wound healingGO:00420609.8BMP4, COL1A1, NOG
26embryonic skeletal system developmentGO:00487069.8BMP4, COL1A1, NOG
27blood coagulationGO:00075969.8COL1A1, COL1A2, TGFB1
28negative regulation of epithelial cell proliferationGO:00506809.6BMP4, TGFB1
29skeletal system developmentGO:00015019.6BMP4, COL1A2, NOG
30forebrain developmentGO:00309009.6BMP4, NOG, RELN
31regulation of gene expressionGO:00104689.5BMP4, RELN, TGFB1
32epithelial to mesenchymal transitionGO:00018379.4BMP2, NOG, TGFB1
33anatomical structure formation involved in morphogenesisGO:00486469.4BMP4, NOG
34chondrocyte differentiationGO:00020629.4BMP2, BMP4, TGFB1
35BMP signaling pathwayGO:00305099.4BMP2, BMP4, NOG
36SMAD protein signal transductionGO:00603959.3BMP2, BMP4, TGFB1
37positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3BMP2, BMP4, TGFB1
38positive regulation of epithelial to mesenchymal transitionGO:00107189.3BMP2, COL1A1, TGFB1
39growthGO:00400079.3BMP2, BMP4, TGFB1
40inflammatory responseGO:00069549.3BMP2, TGFB1, TNFRSF11B
41positive regulation of protein phosphorylationGO:00019349.2BMP2, BMP4, TGFB1
42response to estradiolGO:00323559.2BMP4, COL1A1, TGFB1
43negative regulation of cell proliferationGO:00082859.2BMP2, BMP4, TGFB1
44positive regulation of transcription, DNA-templatedGO:00458939.0BMP2, BMP4, COL1A1, TGFB1
45positive regulation of cell migrationGO:00303358.9BMP2, BMP4, COL1A1, TGFB1
46positive regulation of gene expressionGO:00106288.9BMP2, BMP4, TGFB1
47negative regulation of transcription from RNA polymerase II promoterGO:00001228.7BMP2, BMP4, NOG, TGFB1
48extracellular matrix organizationGO:00301988.3BMP2, BMP4, COL1A1, TGFB1, TNFRSF11B
49osteoblast differentiationGO:00016498.3BMP2, BMP4, COL1A1, NOG
50negative regulation of gene expressionGO:00106297.9BMP2, BMP4, CD46, NOG, TGFB1

Sources for Otosclerosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet