MCID: NNS007

Nonsyndromic Deafness malady

Summaries for Nonsyndromic Deafness

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6Disease Ontology, 17Genetics Home Reference, 44Wikipedia, 22MalaCards
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Genetics Home Reference: Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Different types of nonsyndromic deafness are named according to their inheritance patterns.17

MalaCards: Nonsyndromic Deafness, also known as undifferentiated deafness, is related to autosomal recessive nonsyndromic deafness and x-linked nonsyndromic deafness. An important gene associated with Nonsyndromic Deafness is LRTOMT (leucine rich transmembrane and 0-methyltransferase domain containing), and among its related pathways are Oligomerization of connexins into connexons and Cell adhesion Gap junctions. The compounds gap 26 and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include t cells, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Disease Ontology: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.6

Wikipedia: Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,...44 more...

Aliases & Descriptions for Nonsyndromic Deafness

Sources:
43UMLS, 6Disease Ontology, 44Wikipedia, 17Genetics Home Reference, 8DISEASES, 33OMIM
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nonsyndromic deafness 6 44 17 8
undifferentiated deafness 44 17
isolated deafness 44 17
nonsyndromic hereditary hearing loss 6
nonsyndromic hearing loss 6
deafness, nonsyndromic 33
complete hearing loss 43
deafness 43

Related Diseases for Nonsyndromic Deafness

Sources:
13GeneCards, 14GeneDecks
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Diseases related to nonsyndromic deafness by text searches and GeneDecks gene sharing:

(show top 50)    (show all 551)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive nonsyndromic deafness32.0TFF2, TFF3, DFNB46, OPRD1, TFF1, ABCG1
2x-linked nonsyndromic deafness31.6TIMM8A, COL4A5, RPS6KA6, POU3F4
3kid syndrome30.6GJB2, GJB3, GJB6
4autosomal dominant nonsyndromic deafness30.4SLC17A8, RHOA, TECTA, GRIA3, MRPS12, CEACAM16
5congenital deafness with labyrinthine aplasia, microtia, and microdontia29.8GJB6, BSND, TMPRSS3, SLC26A4, GJB2, USH1A
6keratoderma29.7GJA1, GJB2, GJB6, GJB3
7dfnb129.4PCDH15, GJB6, MYO7A, GJB2, TUBA3C
8usher syndrome29.3MYO7A, CDH23, PDZD7, TRIOBP, GJB6, USH1A
9sensorineural hearing loss29.1GJB2, KCNQ4, GJB3
10dfnb 1 nonsyndromic hearing loss and deafness28.6GJB6, GJB2
11dfna 3 nonsyndromic hearing loss and deafness28.5GJB6, GJB2
12pendred syndrome28.1COL4A5, GJB2, MITF, PAX3, SLC26A4
13bart-pumphrey syndrome28.1GJB6, GJB2
14enlarged vestibular aqueduct27.9GJB2, SLC26A4
15skin disease27.5GJB2, MITF, GJB3, GJB6, GJA1
16macrothrombocytopenia27.3MYH9, GJB3, GJB2
17nonsyndromic hearing loss and deafness27.3GJB2, GJB6
18usher syndrome, type 1f26.6PCDH15, COCH, MYO7A
19usher syndrome type i26.3MYO7A, PCDH15, CDH23
20clouston syndrome25.9GJB6, GJB2, TUBA3C
21usher syndrome, type 1b25.8USH1A, MYO7A
22auditory neuropathy25.4GJB6, GRIA3, GJB2
23ectodermal dysplasia25.2TUBA3C, GJB6, GJA1, GJB2, GJB3
24usher syndrome type 324.9MYO7A, CDH23, PDZD7, PCDH15
25usher syndrome, type 1d24.7CDH23, PCDH15
26pancreatitis23.3GJB2, GJA1, GPSM2, MARVELD2, GRIA3, UCN
27retinitis20.3MT-ND1, GJB6, PCDH15, GJA1, GNB1, MITF
28hearing loss20.2KIAA1199, COCH, PCDH15, MYH9, SLC17A8, SLC26A4
29neuronitis16.8TFF3, GJB6, TUBA3C, TMPRSS3, DIAPH1, RPS6KA6
30pseudoainhum13.4GJB6, GJB3, GJB2
31intestine carcinoma in situ13.4TFF2, TFF1
32erythrokeratodermia variabilis13.3GJB2, GJB3, GJB6
33palmoplantar keratosis13.2GJB3, GJB2, GJA1
34usher syndrome, type 1d/f digenic12.8PCDH15, CDH23
35usher syndrome type 1g12.8PCDH15, CDH23, MYO7A
36rhyns syndrome12.1USH1A, MYO7A, PCDH15, CDH23, GNB1, GJB6
37retinal disease12.0MITF, PAX3, CDH23, PDZD7, MYO7A, PCDH15
38keratitis-ichthyosis-deafness syndrome8.0
39diabetes-deafness syndrome, maternally transmitted7.6
40mohr-tranebjaerg syndrome7.6
41keratoderma palmoplantar deafness7.4
42ichthyosis7.2
43keratitis7.2
44craniofacial-deafness-hand syndrome7.1
45wolfram syndrome6.9
46deafness, x-linked 26.9
47deafness-infertility syndrome6.9
48albinism-deafness syndrome6.7
49dfnb 7/11 nonsyndromic hearing loss and deafness6.7
50tietz syndrome6.7

Graphical network of the top 20 diseases related to nonsyndromic deafness:



Graphical network of diseases related to nonsyndromic deafness

Clinical Features for Nonsyndromic Deafness

Drugs & Therapeutics for Nonsyndromic Deafness

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for nonsyndromic deafness

Drug clinical trials:

Search ClinicalTrials for nonsyndromic deafness

Search NIH Clinical Center for nonsyndromic deafness

Search CenterWatch for nonsyndromic deafness

Genetic Tests for Nonsyndromic Deafness

Anatomical Context for Nonsyndromic Deafness

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22MalaCards
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MalaCards organs/tissues related to nonsyndromic deafness:

22
T cells

Phenotypes for genes affiliated with Nonsyndromic Deafness

Sources:
25MGI
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MGI Mouse Phenotypes related to nonsyndromic deafness:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1no phenotypic analysisMP:00030127.2GJB3, DIAPH1, ABCG1, OPRD1, HDAC3, GJB2
2hearing/vestibular/ear phenotypeMP:00053775.8COCH, TRIOBP, TMPRSS3, TMC1, TECTA, OTOG
3behavior/neurological phenotypeMP:00053865.5LRTOMT, OTOG, TECTA, TMC1, ABCG1, OPRD1
4nervous system phenotypeMP:00036313.9TECTA, TMC1, TMPRSS3, TRIOBP, GJB6, DIAPH2

Publications for genes affiliated with Nonsyndromic Deafness

Sources:
35PubMed
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Articles related to nonsyndromic deafness:

(show all 39)
idTitleAuthorsYearAffiliating Genes
1Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)Duman D.... Tekin M.2011TMPRSS3
2Targeted capture and next-generation sequencing ident ifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness D FNB79. (20170899)Rehman A.U.... Friedman T.B.2010TPRN
3DFNB79: reincarnation of a nonsyndromic deafness locu s on chromosome 9q34.3. (19603065)Khan S.Y.... Friedman T.B.2010TPRN
4Mutation analysis of GJB2 and GJB6 genes in Southeast ern Brazilians with hereditary nonsyndromic deafness. (20563649)de Freitas Cordeiro-Silva M.... Louro I.D.2010GJB2, GJB6
5Mutations in MYH9 exons 1, 16, 26, and 30 are infrequ ently found in Japanese patients with nonsyndromic deafness. (19645626)Kunishima S.... Saito H.2009MYH9
6Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. (19107147)Doucette L.... Young T.L.2009PCDH15, USH1A
7Molecular basis of DFNB73: mutations of BSND can caus e nonsyndromic deafness or Bartter syndrome. (19646679)Riazuddin S.... Fahlke C.2009BSND
8Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)Ahmed Z.M.... Friedman T.B.2008PCDH15, USH1A
9Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)Ahmed Z.M.... Kremer H.2008LRTOMT
10Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)Riazuddin S.... Friedman T.B.2008MYO7A
11Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)Ruel J.... Puel J.-L.2008SLC17A8
12The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)Ain Q.... Riazuddin S.2007GIPC3
13GJB6 gene mutation analysis in Chinese nonsyndromic deaf population (17438853)Yuan Y.... Wu B.2007GJB6
14Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)Yang J.J.... Li S.Y.2007GJA1
15Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)Khan S.Y.... Riazuddin S.2007LRTOMT
16Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)Su C.C.... Li S.Y.2007KCNQ4
17A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)Primignani P.... Travi M.2007GJB2
18A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)GonzA!lez J.R.... Estivill X.2006GJB2
19Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)Meyer C.G.... Horstmann R.D.2005TMC1
20Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)Vore A.P.... Smith R.J.2005POU3F4
21A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)Shaikh R.S.... Riazuddin S.2005DFNB51
22Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)Mir A.... Leal S.M.2005DFNB46
23A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (15538632)Ramzan K.... Riazuddin S.2005POLR2L, BTF3, MARVELD2
24Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. (14735592)Shalev S.A.... Hujirat Y.2004GJB2
25Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)Li X.... Guan M.X.2004UCN, MT-ND1
26Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. (15131355)Alexandrino F.... Sartorato E.L.2004GJB3
27Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. (12471561)Abe S.... Nakamura Y.2003CRYM, KIAA1199
28Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)Wattenhofer M.... Antonarakis S.E.2002TMPRSS3
29CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. (12075507)Astuto L.M.... Kimberling W.J.2002CDH23
30Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)Bruzzone R.... White T.W.2001GJB2
31Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (11074495)Lerer I.... Abeliovich D.2000GJB2
32Refined 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)Berry A.... Bonne-Tamir B.2000ABCG1, TFF1, TFF2
33Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. (10337628)Cohen-Salmon M.... Petit C.1999OTOG
34Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)Robertson N.G.... Seidman J.G.1998COCH
35Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. (9603736)Wang A.... Friedman T.B.1998MYO15A
36Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. (9503015)Hughes D.C.... Richardson G.P.1998TECTA
37Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)Lynch E.D.... King M.-C.1997HDAC3, DIAPH1, DIAPH2
38Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)Coyle B.... Trembath R.1996PAX3, MITF, COL4A5
39A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). (8530067)Guilford P.... Cohen D.1995TUBA3C

Expression for genes affiliated with Nonsyndromic Deafness

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Nonsyndromic Deafness

Pathways for genes affiliated with Nonsyndromic Deafness

Sources:
38Reactome, 10EMD Millipore, 41Thomson Reuters, 36QIAGEN
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Pathways related to nonsyndromic deafness according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Oligomerization of connexins into connexons389.7GJA1, GJB2
2Cell adhesion Gap junctions109.7GJA1, GJB2, GJB3, TUBA3C
3Cell adhesion_Gap junctions419.6TUBA3C, GJB3, GJB2, GJA1
4Signaling in Gap Junctions369.4GNB1, GJA1, GJB2, GJB3, GJB6

Compounds for genes affiliated with Nonsyndromic Deafness

Sources:
42Tocris Bioscience, 32Novoseek , 9DrugBank, 18HMDB
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Compounds related to nonsyndromic deafness according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1gap 2642 9.7GJA1, GJB6, GJB3, GJB2
2gap 2742 9.6GJB6, GJB3, GJB2, GJA1
3hmba32 9.5MITF, GJA1, POLR2L
4potassium32 9 18 9 11.7OPRD1, CRYM, GJB3, GJB2, GJA1, UCN

GO Terms for genes affiliated with Nonsyndromic Deafness

Sources:
12Gene Ontology
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Cellular components related to nonsyndromic deafness according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.5PCDH15, MYO7A, GNB1
2connexon complexGO:0059229.4GJB6, GJB3, GJB2, GJA1
3stereociliumGO:0324209.1PCDH15, MYO15A, MYO7A, CDH23, TPRN

Biological processes related to nonsyndromic deafness according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of light stimulusGO:0509539.4PCDH15, MYO7A, CDH23
2equilibrioceptionGO:0509579.1CDH23, MYO7A, PCDH15
3sensory perception of soundGO:0076056.6COCH, TMPRSS3, TMC1, TECTA, DIAPH1, OTOG

Molecular functions related to nonsyndromic deafness according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.9GJA1, GJB2, GJB3

Sources for Nonsyndromic Deafness

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS