MCID: NNS016
MIFTS: 10

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive malady

Categories: Genetic diseases (common), Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Aliases & Descriptions for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

Name: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 24 27

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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MalaCards based summary: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is related to localized lichen myxedematosus with mixed features of different subtypes. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase). Related mouse phenotypes are digestive/alimentary and vision/eye.

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1localized lichen myxedematosus with mixed features of different subtypes9.5MET, USH1C

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.9MET, USH1C
2MP:00053919.1MET, USH1C

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Genetic tests related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive27 24 USH1C

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Clinvar genetic disease variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1METNM_000245.3(MET): c.2521T> G (p.Phe841Val)SNVPathogenicrs794728016GRCh38Chr 7, 116763206: 116763206

Expression for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive.

Pathways for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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GO Terms for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet