MCID: NNS016
MIFTS: 20

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive malady

Categories: Genetic diseases, Ear diseases

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

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

Name: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 24 29

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is related to molluscum contagiosum and robinow syndrome, autosomal dominant 1. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is USH1C (USH1 Protein Network Component Harmonin). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:



Diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 LRTOMT MARVELD2 MET MYO3A PTPRQ ESPN
2 hearing/vestibular/ear MP:0005377 9.77 MARVELD2 MSRB3 MYO3A OTOA PTPRQ ESPN
3 nervous system MP:0003631 9.5 LRTOMT MARVELD2 MET MSRB3 MYO3A OTOA

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

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

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 29 24 USH1C

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_000245.3(MET): c.2521T> G (p.Phe841Val) single nucleotide variant Pathogenic rs794728016 GRCh38 Chromosome 7, 116763206: 116763206

Expression for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

Pathways for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

GO Terms for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Cellular components related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.77 ESPN GRXCR1 LOXHD1 TPRN USH1C
2 microvillus GO:0005902 9.43 ESPN GRXCR1 USH1C
3 filamentous actin GO:0031941 9.4 ESPN MYO3A
4 stereocilium tip GO:0032426 9.32 ESPN LHFPL5
5 tricellular tight junction GO:0061689 9.16 ILDR1 MARVELD2
6 stereocilium bundle GO:0032421 9.13 ESPN LHFPL5 PTPRQ
7 stereocilium GO:0032420 9.02 ESPN GRXCR1 LOXHD1 TPRN USH1C

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.44 ESPN GRXCR1 LHFPL5 LOXHD1 LRTOMT MARVELD2
2 actin filament bundle assembly GO:0051017 9.37 ESPN USH1C
3 inner ear morphogenesis GO:0042472 9.33 PTPRQ TMIE USH1C
4 inner ear receptor stereocilium organization GO:0060122 9.32 GRXCR1 USH1C
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 LHFPL5 PTPRQ
6 parallel actin filament bundle assembly GO:0030046 8.96 ESPN USH1C

Molecular functions related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.62 SLC26A5 USH1C

Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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