MCID: NNS007
MIFTS: 38

Nonsyndromic Deafness malady

Ear diseases category

Summaries for Nonsyndromic Deafness

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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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 x-linked nonsyndromic deafness and usher syndrome. 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:63 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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Sources:
8Disease Ontology, 63Wikipedia, 21Genetics Home Reference, 10DISEASES, 46OMIM, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

nonsyndromic deafness 8 63 21 10
undifferentiated deafness 63 21
nonsyndromic hearing loss 8 21
isolated deafness 63 21
nonsyndromic hereditary hearing loss 8
nonsyndromic hearing impairment 21
deafness, nonsyndromic 46
complete hearing loss 60


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 101)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked nonsyndromic deafness30.4TIMM8A
2usher syndrome30.4PDZD7
3sensorineural hearing loss30.0POU3F4, TIMM8A
4autosomal recessive nonsyndromic deafness10.5
5dfna2 nonsyndromic hearing loss10.5
6dfnx1 nonsyndromic hearing loss and deafness10.5
7enlarged vestibular aqueduct10.4
8nonsyndromic hearing loss and deafness, mitochondrial10.4
9nonsyndromic hearing loss and deafness, dfna310.4
10nonsyndromic hearing loss and deafness, dfnb110.4
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
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

Clinical Features for Nonsyndromic Deafness

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Drugs & Therapeutics for Nonsyndromic Deafness

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Nonsyndromic Deafness

Search CenterWatch 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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36MGI
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MGI Mouse Phenotypes related to Nonsyndromic Deafness:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.4CEACAM16, OTOG, LRTOMT, GIPC3, MYO15A, POU3F4

Publications for Nonsyndromic Deafness

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50PubMed
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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 91)
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
Autosomal recessive nonsyndromic deafness genes: a review. (22652773)
2012
4
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (23023331)
2012
5
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. (22736430)
2012
6
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
2011
7
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
2010
8
A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family. (19274344)
2009
9
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
2009
10
Function and expression pattern of nonsyndromic deafness genes. (19601806)
2009
11
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
12
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. (19270079)
2009
13
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)
2008
14
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
15
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
16
GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
2007
17
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
2007
18
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
2007
19
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
2007
20
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
21
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
2005
22
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)
2005
23
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. (15711797)
2005
24
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)
2005
25
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)
2004
26
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
27
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. (15447792)
2004
28
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. (14735592)
2004
29
The genetic bases for syndromic and nonsyndromic deafness among Jews. (14604828)
2003
30
Making sense of nonsyndromic deafness. (12707186)
2003
31
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
32
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)
2002
33
High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness. (11551103)
2001
34
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (11468689)
2001
35
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. (10903123)
2000
36
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (11023810)
2000
37
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (11074495)
2000
38
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. (10471490)
1999
39
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
40
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. (10192385)
1999
41
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
42
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. (9819448)
1998
43
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. (9471561)
1998
44
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)
1997
45
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
46
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (7573061)
1995
47
Mitochondrial mutation associated with nonsyndromic deafness. (8572257)
1995
48
Nonsyndromic Hearing Loss and Deafness, DFNA3 (20301708)
1993
49
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. (2706105)
1989
50
Nonsyndromic deafness. (7011439)
1980

Genetic Variations for Nonsyndromic Deafness

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Expression for genes affiliated with Nonsyndromic Deafness

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1BioGPS, 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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44Novoseek, 24HMDB
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Compounds related to Nonsyndromic Deafness according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1parathion44 2411.4TFF3, TFF2

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: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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet