MCID: NNS007
MIFTS: 37

Nonsyndromic Deafness malady

Summaries for Nonsyndromic Deafness

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Nonsyndromic Deafness, also known as undifferentiated deafness, is related to usher syndrome and x-linked nonsyndromic deafness. An important gene associated with Nonsyndromic Deafness is KIAA1199 (KIAA1199). The compound parathion have been mentioned in the context of this disorder. Related mouse phenotype hearing/vestibular/ear.

Disease Ontology:8 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.

Wikipedia:64 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Aliases & Classifications for Nonsyndromic Deafness

Sources:
8Disease Ontology, 64Wikipedia, 21Genetics Home Reference, 10DISEASES, 47OMIM, 61UMLS
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Aliases & Descriptions:

nonsyndromic deafness 8 64 21 10
undifferentiated deafness 64 21
nonsyndromic hearing loss 8 21
isolated deafness 64 21
nonsyndromic hereditary hearing loss 8
nonsyndromic hearing impairment 21
deafness, nonsyndromic 47
complete hearing loss 61


External Ids:

Disease Ontology8 DOID:0050563

Related Diseases for Nonsyndromic Deafness

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the congenital deafness with labyrinthine aplasia, microtia, and microdontia family:

nonsyndromic deafness deafness with labyrinthine aplasia microtia and microdontia
deafness, progressive with stapes fixation familial deafness
rare deafness

Diseases related to Nonsyndromic Deafness via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome30.4PDZD7
2x-linked nonsyndromic deafness30.4TIMM8A
3sensorineural hearing loss30.0POU3F4, TIMM8A
4dfna2 nonsyndromic hearing loss10.6
5autosomal recessive nonsyndromic deafness10.6
6dfnx1 nonsyndromic hearing loss and deafness10.4
7n syndrome10.4
8dfnb110.4
9enlarged vestibular aqueduct10.4
10nonsyndromic hearing loss and deafness, mitochondrial10.4
11dfna 3 nonsyndromic hearing loss and deafness10.4
12nonsyndromic hearing loss and deafness10.4
13nonsyndromic hearing loss and deafness, autosomal dominant10.4
14nonsyndromic hearing loss and deafness, autosomal recessive10.4
15dfnb 8/10 nonsyndromic hearing loss and deafness10.4
16nonsyndromic hearing loss and deafness, dfna310.3
17nonsyndromic hearing loss and deafness, dfnb110.3
18dfnb 1 nonsyndromic hearing loss and deafness10.3
19nonsyndromic hearing loss and deafness, x-linked10.3
20dfna 6/14/38 nonsyndromic hearing loss and deafness10.3
21gjb6-related dfna 3 nonsyndromic hearing loss and deafness10.3
22gjb6-related dfnb 1 nonsyndromic hearing loss and deafness10.3
23dfna 8/12 nonsyndromic hearing loss and deafness10.3
24dfnb21 nonsyndromic hearing loss and deafness10.3
25dfnb12 nonsyndromic hearing loss and deafness10.3
26dfna11 nonsyndromic hearing loss and deafness10.3
27dfnb 3 nonsyndromic hearing loss and deafness10.3
28dfnb 6 nonsyndromic hearing loss and deafness10.3
29dfnb 7/11 nonsyndromic hearing loss and deafness10.3
30dfnb16 nonsyndromic hearing loss and deafness10.3
31dfnb18 nonsyndromic hearing loss and deafness10.3
32dfnb28 nonsyndromic hearing loss and deafness10.3
33dfnb30 nonsyndromic hearing loss and deafness10.3
34dfna 1 nonsyndromic hearing loss and deafness10.3
35dfna 4 nonsyndromic hearing loss and deafness10.3
36dfna 5 nonsyndromic hearing loss and deafness10.3
37dfna10 nonsyndromic hearing loss and deafness10.3
38dfna13 nonsyndromic hearing loss and deafness10.3
39dfna17 nonsyndromic hearing loss and deafness10.3
40dfna22 nonsyndromic hearing loss and deafness10.3
41dfna23 nonsyndromic hearing loss and deafness10.3
42dfna36 nonsyndromic hearing loss and deafness10.3
43dfna44 nonsyndromic hearing loss and deafness10.3
44dfnb23 nonsyndromic hearing loss and deafness10.3
45dfnb31 nonsyndromic hearing loss and deafness10.3
46dfnb37 nonsyndromic hearing loss and deafness10.3
47dfnb59 nonsyndromic hearing loss and deafness10.3
48dfnb39 nonsyndromic hearing loss and deafness10.3
49dfna20/26 nonsyndromic hearing loss and deafness10.3
50dfna25 nonsyndromic hearing loss and deafness10.3

Graphical network of the top 20 diseases related to Nonsyndromic Deafness:



Diseases related to nonsyndromic deafness

Clinical Features for Nonsyndromic Deafness

Drugs & Therapeutics for Nonsyndromic Deafness

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Animal Models for Nonsyndromic Deafness or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Nonsyndromic Deafness:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.4CEACAM16, OTOG, LRTOMT, GIPC3, MYO15A, POU3F4

Publications for Nonsyndromic Deafness

Sources:
51PubMed
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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. (24387994)
2014
2
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
2012
3
Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. (22567861)
2012
4
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
2012
5
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)
2011
6
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. (21029073)
2011
7
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
2011
8
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
2010
9
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (20021999)
2010
10
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (19603065)
2010
11
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (19646679)
2009
12
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. (19728075)
2009
13
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
2008
14
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
2008
15
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
16
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
17
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
2007
18
Vestibular system in infants with hereditary nonsyndromic deafness. (17898670)
2007
19
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
20
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. (16385457)
2006
21
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
2005
22
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)
2005
23
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. (16059934)
2005
24
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)
2005
25
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (15538632)
2005
26
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci. (14757864)
2004
27
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. (15131355)
2004
28
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. (12471561)
2003
29
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
30
Deafness genes for nonsyndromic hearing loss and current studies in China. (12173596)
2002
31
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)
2002
32
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. (12127154)
2002
33
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
2001
34
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (11090341)
2001
35
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. (11493199)
2001
36
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. (11810458)
2000
37
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (11023810)
2000
38
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
39
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. (10464101)
1999
40
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. (9653658)
1998
41
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. (9503015)
1998
42
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. (9632174)
1998
43
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)
1998
44
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. (9603736)
1998
45
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. (8789454)
1996
46
A 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)
1995
47
A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. (8634715)
1995
48
DFNX1 Nonsyndromic Hearing Loss and Deafness (21834172)
1993
49
Nonsyndromic Hearing Loss and Deafness, DFNB1 (20301449)
1993
50
Nonsyndromic Hearing Loss and Deafness, Mitochondrial (20301595)
1993

Genetic Variations for Nonsyndromic Deafness

Expression for genes affiliated with Nonsyndromic Deafness

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nonsyndromic Deafness

Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for genes affiliated with Nonsyndromic Deafness

Compounds for genes affiliated with Nonsyndromic Deafness

Sources:
45Novoseek, 24HMDB
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Compounds related to Nonsyndromic Deafness according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1parathion45 2411.4TFF3, TFF2

GO Terms for genes affiliated with Nonsyndromic Deafness

Sources:
16Gene Ontology
See all sources

Cellular components related to Nonsyndromic Deafness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:00575810.5PNPT1, TIMM8A

Biological processes related to Nonsyndromic Deafness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00760510.4CEACAM16, OTOG, LRTOMT, MYO15A, POU3F4

Products for genes affiliated with Nonsyndromic Deafness

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Sources for Nonsyndromic Deafness

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet