MCID: NNS007
MIFTS: 36

Nonsyndromic Deafness malady

Genetic diseases, Ear diseases, Rare diseases categories
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Summaries for Nonsyndromic Deafness

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Sources:
8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 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 sensorineural hearing loss and nonsyndromic hearing loss and deafness. An important gene associated with Nonsyndromic Deafness is LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing). 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:65 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Aliases & Classifications for Nonsyndromic Deafness

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8Disease Ontology, 65Wikipedia, 21Genetics Home Reference, 10DISEASES, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases


Aliases & Descriptions:

nonsyndromic deafness 8 65 21 10
undifferentiated deafness 65 21
nonsyndromic hearing loss 8 21
isolated deafness 65 21
nonsyndromic hereditary hearing loss 8
nonsyndromic hearing impairment 21
deafness, nonsyndromic 47
complete hearing loss 62


External Ids:

Disease Ontology8 DOID:0050563

Related Diseases for Nonsyndromic Deafness

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Nonsyndromic Deafness family:

Otof-Related Deafness Familial Deafness
Rare Deafness

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1sensorineural hearing loss30.0GJB3, POU3F4
2nonsyndromic hearing loss and deafness10.6
3autosomal recessive nonsyndromic deafness10.6
4dfna2 nonsyndromic hearing loss10.5
5dfnx1 nonsyndromic hearing loss and deafness10.5
6nonsyndromic hearing loss and deafness, mitochondrial10.5
7enlarged vestibular aqueduct10.4
8nonsyndromic hearing loss and deafness, dfna310.4
9nonsyndromic hearing loss and deafness, dfnb110.4
10dfna 3 nonsyndromic hearing loss and deafness10.4
11nonsyndromic hearing loss and deafness, autosomal dominant10.4
12nonsyndromic hearing loss and deafness, autosomal recessive10.4
13dfnb 8/10 nonsyndromic hearing loss and deafness10.4
14usher syndrome10.3
15x-linked nonsyndromic deafness10.3
16dfnb 1 nonsyndromic hearing loss and deafness10.3
17nonsyndromic hearing loss and deafness, x-linked10.3
18dfna 6/14/38 nonsyndromic hearing loss and deafness10.3
19gjb6-related dfna 3 nonsyndromic hearing loss and deafness10.3
20gjb6-related dfnb 1 nonsyndromic hearing loss and deafness10.3
21dfna 8/12 nonsyndromic hearing loss and deafness10.3
22dfnb21 nonsyndromic hearing loss and deafness10.3
23dfnb12 nonsyndromic hearing loss and deafness10.3
24dfna11 nonsyndromic hearing loss and deafness10.3
25dfnb 3 nonsyndromic hearing loss and deafness10.3
26dfnb 6 nonsyndromic hearing loss and deafness10.3
27dfnb 7/11 nonsyndromic hearing loss and deafness10.3
28dfnb16 nonsyndromic hearing loss and deafness10.3
29dfnb18 nonsyndromic hearing loss and deafness10.3
30dfnb28 nonsyndromic hearing loss and deafness10.3
31dfnb30 nonsyndromic hearing loss and deafness10.3
32dfna 1 nonsyndromic hearing loss and deafness10.3
33dfna 4 nonsyndromic hearing loss and deafness10.3
34dfna 5 nonsyndromic hearing loss and deafness10.3
35dfna10 nonsyndromic hearing loss and deafness10.3
36dfna13 nonsyndromic hearing loss and deafness10.3
37dfna17 nonsyndromic hearing loss and deafness10.3
38dfna22 nonsyndromic hearing loss and deafness10.3
39dfna23 nonsyndromic hearing loss and deafness10.3
40dfna36 nonsyndromic hearing loss and deafness10.3
41dfna44 nonsyndromic hearing loss and deafness10.3
42dfnb23 nonsyndromic hearing loss and deafness10.3
43dfnb31 nonsyndromic hearing loss and deafness10.3
44dfnb37 nonsyndromic hearing loss and deafness10.3
45dfnb59 nonsyndromic hearing loss and deafness10.3
46dfnb39 nonsyndromic hearing loss and deafness10.3
47dfna20/26 nonsyndromic hearing loss and deafness10.3
48dfna25 nonsyndromic hearing loss and deafness10.3
49dfna28 nonsyndromic hearing loss and deafness10.3
50dfna50 nonsyndromic hearing loss and deafness10.3

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



Diseases related to nonsyndromic deafness

Symptoms for Nonsyndromic Deafness

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Drugs & Therapeutics for Nonsyndromic Deafness

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Nonsyndromic Deafness

Search NIH Clinical Center for Nonsyndromic Deafness

Genetic Tests for Nonsyndromic Deafness

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Anatomical Context for Nonsyndromic Deafness

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Animal Models for Nonsyndromic Deafness or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Nonsyndromic Deafness:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.0TRIOBP, OTOG, GIPC3, POU3F4, LRTOMT

Publications for Nonsyndromic Deafness

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52PubMed
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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
2013
2
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. (23901193)
2013
3
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
2012
4
Autosomal recessive nonsyndromic deafness genes: a review. (22652773)
2012
5
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
6
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
2012
7
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)
2011
8
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. (21029073)
2011
9
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
2011
10
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
2010
11
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (19603065)
2010
12
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (19646679)
2009
13
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
2009
14
Function and expression pattern of nonsyndromic deafness genes. (19601806)
2009
15
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. (19107147)
2009
16
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
2008
17
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
2008
18
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)
2008
19
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
20
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
21
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
2007
22
GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
2007
23
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
2007
24
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
2007
25
Vestibular system in infants with hereditary nonsyndromic deafness. (17898670)
2007
26
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
27
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
2005
28
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
2005
29
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)
2005
30
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)
2005
31
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (15538632)
2005
32
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)
2004
33
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. (14681830)
2004
34
The genetic bases for syndromic and nonsyndromic deafness among Jews. (14604828)
2003
35
Making sense of nonsyndromic deafness. (12707186)
2003
36
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. (12471561)
2003
37
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)
2002
38
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
2001
39
High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness. (11551103)
2001
40
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. (11810458)
2000
41
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (11074495)
2000
42
Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. (10337628)
1999
43
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. (10464101)
1999
44
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
45
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. (9632174)
1998
46
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)
1998
47
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)
1997
48
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
49
Mitochondrial mutation associated with nonsyndromic deafness. (8572257)
1995
50
Nonsyndromic deafness. (7011439)
1980

Variations for Nonsyndromic Deafness

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Expression for genes affiliated with Nonsyndromic Deafness

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nonsyndromic Deafness

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Pathways for genes affiliated with Nonsyndromic Deafness

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Compounds for genes affiliated with Nonsyndromic Deafness

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GO Terms for genes affiliated with Nonsyndromic Deafness

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16Gene Ontology
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Cellular components related to Nonsyndromic Deafness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.3DIABLO, PNPT1
2cytoplasmGO:0057378.0TRIOBP, GJB3, WDR4, GPSM2, PNPT1, LRTOMT

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076058.5OTOG, GJB3, POU3F4, LRTOMT

Products for genes affiliated with Nonsyndromic Deafness

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Sources for Nonsyndromic Deafness

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet