TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in 80 Moroccan families with non-syndromic hearing impairment, the gene was sequenced using DNA samples from these families. 22382023 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 Biomarker phenotype BEFREE In particular 5 novel alleles were identified in the following genes LOXHD1, TMPRSS3, TECTA and MYO15A already associated with hearing impairment. 24657061 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results. 17551081 2007
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 21534946 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.460 GeneticVariation phenotype BEFREE Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. 24416283 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 23958653 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Genetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci. 31016883 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 26036852 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. 10950923 2000
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE Of the over 30 reported autosomal recessive nonsyndromic hearing loss (NSHL) loci, the typical phenotype is prelingual non-progressive severe to profound hearing loss with the exception of DFNB8, which displays postlingual onset and DFNB13, which is progressive. 12529709 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 Biomarker disease BEFREE Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosomal recessive nonsyndromic hearing loss (arNSHL) phenotypes, DFNB8 and DFNB10, in terms of residual hearing that may mandate different rehabilitation. 24526180 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.380 GeneticVariation disease BEFREE In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well. 19170735 2009
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 PosttranslationalModification disease BEFREE The present study aimed to investigate the functions and regulation mechanism of the transmembrane protease, serine 3 (TMPRSS3), which plays an important role in sensorineural hearing loss. 31408246 2019
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 GeneticVariation disease BEFREE We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian families segregating congenital autosomal recessive sensorineural deafness. 11462234 2001
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE TMPRSS3 encodes a transmembrane serine protease that contains both LDLRA and SRCR domains and is mutated in non-syndromic autosomal recessive deafness (DFNB8/10). 12393794 2002
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 17981648 2008
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE Mutations in the gene cause non-syndromic autosomal recessive deafness (DFNB8/10) in humans. 29460002 2018
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 Biomarker disease BEFREE This chromosomal region is known to contain genes for human diseases such as non-syndromic autosomal recessive deafness (DFNB8/10) and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). 9325172 1997
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. 11462234 2001
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.060 GeneticVariation disease BEFREE Mutations in the type II transmembrane serine protease 3 (TMPRSS3) gene cause non-syndromic autosomal recessive deafness (DFNB8/10), characterized by congenital or childhood onset bilateral profound hearing loss. 21454591 2011
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.040 GeneticVariation disease BEFREE We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. 15447792 2004
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.040 GeneticVariation disease BEFREE In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well. 19170735 2009
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.040 GeneticVariation disease BEFREE TMPRSS3 mutations are not a common cause of hereditary deafness, the elucidation of its function is nevertheless important for better understanding of hearing, and provide biological targets for therapeutic interventions. 17981648 2008
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.040 Biomarker disease BEFREE TMPRSS3 defects seem to be an important cause of ARNSHL in Slovenia resulting in uniform phenotype with profound congenital hearing loss, and satisfactory hearing and speech recognition outcome after cochlear implantation. 26036852 2016