Otosclerosis 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Otosclerosis 4

MalaCards integrated aliases for Otosclerosis 4:

Name: Otosclerosis 4 ⁵⁶ ¹³ ⁷¹

Otsc4 ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
2:1 female preponderance

HPO:

³¹

otosclerosis 4:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 611571

OMIM Phenotypic Series ⁵⁶ PS166800

MedGen ⁴¹ C1969046

SNOMED-CT via HPO ⁶⁸ 11543004 263681008 77507001

UMLS ⁷¹ C1969046

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Summaries for Otosclerosis 4

MalaCards based summary : Otosclerosis 4, also known as otsc4, is related to otosclerosis. An important gene associated with Otosclerosis 4 is OTSC4 (Otosclerosis 4). Affiliated tissues include bone, and related phenotypes are otosclerosis and mixed hearing impairment

More information from OMIM: 611571 PS166800

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Related Diseases for Otosclerosis 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	otosclerosis	11.8

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Symptoms & Phenotypes for Otosclerosis 4

Human phenotypes related to Otosclerosis 4:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	otosclerosis ³¹		HP:0000362
2	mixed hearing impairment ³¹		HP:0000410

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural

Clinical features from OMIM:

611571

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Drugs & Therapeutics for Otosclerosis 4

Search Clinical Trials , NIH Clinical Center for Otosclerosis 4

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Genetic Tests for Otosclerosis 4

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Anatomical Context for Otosclerosis 4

MalaCards organs/tissues related to Otosclerosis 4:

⁴⁰

Bone

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Publications for Otosclerosis 4

Articles related to Otosclerosis 4:

#	Title	Authors	PMID	Year
1	Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. ⁶¹ ⁵⁶	Brownstein Z...Avraham KB	16618911	2006
2	Third-generation bisphosphonates for cochlear otosclerosis stabilizes sensorineural hearing loss in long-term follow-up. ⁶¹	Jan TA...Quesnel AM	29094069	2017
3	Primary stapedotomy in children with otosclerosis: A prospective study of 41 consecutive cases. ⁶¹	Vincent R...Grolman W	26016603	2016
4	A review on the genetics of otosclerosis. ⁶¹	Moumoulidis I...Reid E	17651264	2007
5	[Identification of human papilloma viruses (HPV) in inflammatory states and ear neoplasms]. ⁶¹	Rydzewski B...Durzynski L	17668798	2007

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Genes for Otosclerosis 4

Genes related to Otosclerosis 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OTSC4	Otosclerosis 4	Genetic Locus	57.69	Susceptibility factor ⁵⁶ GeneCards inferred via : Gene name (show sections)

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Variations for Otosclerosis 4

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Expression for Otosclerosis 4

Search GEO for disease gene expression data for Otosclerosis 4.

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Pathways for Otosclerosis 4

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GO Terms for Otosclerosis 4

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Sources for Otosclerosis 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

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⁵³ NINDS

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Otosclerosis 4 (OTSC4)

Aliases & Classifications for Otosclerosis 4

MalaCards integrated aliases for Otosclerosis 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Otosclerosis 4

Related Diseases for Otosclerosis 4

Diseases in the Otosclerosis family:

Diseases related to Otosclerosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Otosclerosis 4

Human phenotypes related to Otosclerosis 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Otosclerosis 4

Genetic Tests for Otosclerosis 4

Anatomical Context for Otosclerosis 4

MalaCards organs/tissues related to Otosclerosis 4:

Publications for Otosclerosis 4

Articles related to Otosclerosis 4:

Genes for Otosclerosis 4

Genes related to Otosclerosis 4 (1 elite genes):

Variations for Otosclerosis 4

Expression for Otosclerosis 4

Pathways for Otosclerosis 4

GO Terms for Otosclerosis 4

Sources for Otosclerosis 4