MCID: NNS007
MIFTS: 41

Nonsyndromic Deafness malady

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Nonsyndromic Deafness

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Aliases & Descriptions for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 10 68 23 12 65
Nonsyndromic Hearing Loss 10 23
Deafness, Nonsyndromic 11 24
Isolated Deafness 68 23
 
Nonsyndromic Hearing Loss and Deafness 23
Nonsyndromic Hereditary Hearing Loss 10
Nonsyndromic Hearing Impairment 23
Undifferentiated Deafness 68

Classifications:



External Ids:

Disease Ontology10 DOID:0050563
UMLS65 C3711374

Summaries for Nonsyndromic Deafness

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Genetics Home Reference:23 Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.

MalaCards based summary: Nonsyndromic Deafness, also known as nonsyndromic hearing loss, is related to autosomal recessive nonsyndromic deafness and x-linked nonsyndromic deafness. An important gene associated with Nonsyndromic Deafness is COL11A2 (Collagen Type XI Alpha 2), and among its related pathways is Gap junction trafficking. Affiliated tissues include colon, breast and heart, and related mouse phenotypes are integument and behavior/neurological.

Disease Ontology:10 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:68 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Related Diseases for Nonsyndromic Deafness

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Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 32
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 42 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Recessive 25 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 104
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 8/12 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 102
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28 nonsyndromic deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Otof-Related Deafness Deafness, Autosomal Dominant, 68
Deafness, Autosomal Recessive, 97

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

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive nonsyndromic deafness34.1COCH, TECTA
2x-linked nonsyndromic deafness33.9GJB2, LRTOMT, OTOG, TMPRSS3, TRIOBP
3nonsyndromic hearing loss and deafness, mitochondrial31.9GJB2, GJB3, GJB6, POU3F4
4deafness, autosomal recessive 1231.0CDH23, PCDH15
5autosomal dominant nonsyndromic deafness29.2CDH23, CIB2, COCH, COL11A2, DCDC2, GJB2
6dfnb 7/11 nonsyndromic hearing loss and deafness12.6
7dfnx1 nonsyndromic hearing loss and deafness12.6
8dfna2 nonsyndromic hearing loss12.6
9dfnb 8/10 nonsyndromic hearing loss and deafness12.6
10dfna 3 nonsyndromic hearing loss and deafness12.5
11deafness, nonsyndromic, modifier 112.3
12pendred syndrome/dfnb411.5
13nonsyndromic hearing loss and deafness, dfnb110.5GJB2, GJB6
14myocardial infarction 210.5GJB2, GJB6
15sarcoma10.4
16congenital deafness with vitiligo and achalasia10.4GJB2, GJB6
17ectodermal dysplasia 2, clouston type10.4GJB2, GJB6
18charcot-marie-tooth disease, type 1a10.4GJB2, MYO15A, MYO7A
19wolfram syndrome10.3
20deafness, autosomal recessive 9810.3
21fechtner syndrome10.3
22sebastian syndrome10.3
23epstein syndrome10.3
24usher syndrome type 1k10.3CIB2, MYO7A
25deafness, autosomal recessive 2310.3COCH, MYO7A, PCDH15
26prostate cancer10.3
27celiac disease10.3
28lymphoma10.3
29prostatitis10.3
30pseudoaminopterin syndrome10.3GJB3, GJB6
31deafness, autosomal dominant 3a10.2GJB2, GJB3, GJB6
32deafness, autosomal dominant 1110.2GJB2, MYO15A, MYO7A, TECTA
33myotonic dystrophy10.2
34kidney cancer, childhood10.2GJB2, GJB3, GJB6
35erythrokeratodermia variabilis et progressiva10.2GJB2, GJB3, GJB6
36troyer syndrome10.2GJB2, GJB3, GJB6
37amelogenesis imperfecta, type ig10.2CDH23, MYO7A, PCDH15
38syndactyly, type iii10.1GJB2, GJB3
39deafness, autosomal recessive10.1CIB2, GJB3, LRTOMT
40neuroblastoma10.1
41parathyroid carcinoma10.1
42breast cancer10.1
43anorexia nervosa10.1
44keratitis10.1
45ataxia-telangiectasia10.1
46hypertriglyceridemia10.1
47insulin-like growth factor i10.1
48ewing sarcoma10.1
49burns10.1
50glomerulonephritis10.1

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiology of Non-syndromic Dominant DeafnessCompletedNCT01150305
2Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan ProtocolRecruitingNCT00341874
3Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036
4Genetic Analysis of Human Hereditary Hearing ImpairmentTerminatedNCT00001606

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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MalaCards organs/tissues related to Nonsyndromic Deafness:

33
Colon, Breast, Heart, Brain, B cells, Myeloid, Skin

Animal Models for Nonsyndromic Deafness or affiliated genes

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MGI Mouse Phenotypes related to Nonsyndromic Deafness:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9CDH23, GJB2, GJB3, GJB6, MYO7A, POU3F4
2MP:00053866.8CDH23, CIB2, DCDC2, GJB6, LRTOMT, MYO15A
3MP:00036316.2CDH23, CIB2, DCDC2, GJB2, GJB6, LRTOMT
4MP:00053776.1CDH23, CIB2, COCH, COL11A2, GJB2, GJB6

Publications for Nonsyndromic Deafness

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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Bronchogenic cyst associated with congenital absence of the pericardium. (25907540)
2015
2
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. (25726327)
2015
3
Eosinophilia in asthma: the easy way is not always the best. (25808674)
2015
4
Spontaneously resolved exudative retinal detachment caused by orbital cellulitis in an immunocompromised adult. (24232314)
2014
5
Dextran sulfate-coated superparamagnetic iron oxide nanoparticles as a contrast agent for atherosclerosis imaging. (24299895)
2014
6
Clinical Feasibility of Multiplanar Reconstruction Images of Temporal Bone CT in the Diagnosis of Temporal Bone Fracture with Otic-Capsule-Sparing Facial Nerve Paralysis. (24427570)
2013
7
Percutaneous absorption and antibacterial activities of lipid nanocarriers loaded with dual drugs for acne treatment. (23370356)
2013
8
Expression and prognostic significance of Oct4 and Nanog in neuroblastoma. (24320714)
2013
9
Huge cystic lymphangioma of the pancreas mimicking pancreatic cystic neoplasm. (23197988)
2012
10
Psoriatic arthritis and psoriasis projects in Italy: a report from the GRAPPA 2011 annual meeting. (23118288)
2012
11
Immunosuppressive therapy in aplastic anemia. (22274992)
2012
12
Gene expression in human accessory lacrimal glands of Wolfring. (22956620)
2012
13
Use of dietary fluoride supplements by children living in Berlin, Germany, may have a dose-response preventive effect against dental caries, regardless of their use of fluoridated salt. (21605842)
2011
14
Cytotoxicity of new alkylamino- and phenylamino-containing polyfluorinated derivatives of 1,4-naphthoquinone. (20189692)
2010
15
Severe Eosinophilia in an infant with congenital acute myeloid leukemia with t(3;4;6)(q26;q25;q21): a case report. (20562653)
2010
16
Lymphoblastic lymphoma arising at the insulin injection sites in a child with type 1 diabetes mellitus. (20547397)
2010
17
Gastropericardial fistula as a complication in a refractory gastric ulcer after esophagogastrostomy with gastric pull-up. (20191021)
2010
18
Association between heme oxygenase-1 gene promoter polymorphisms and type 2 diabetes in a Chinese population. (19696228)
2009
19
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. (19587293)
2009
20
Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors. (19336518)
2009
21
DNMT1 and DNMT3B modulate distinct polycomb-mediated histone modifications in colon cancer. (19723660)
2009
22
Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians. (19741564)
2009
23
Cellular characterization of the peritumoral edema zone in malignant brain tumors. (19681905)
2009
24
High expression of CD40 on B-cell precursor acute lymphoblastic leukemia blasts is an independent risk factor associated with improved survival and enhanced capacity to up-regulate the death receptor CD95. (18552209)
2008
25
Clinical challenges and images in GI. Colonic pseudo-obstruction as a rare complication of herpes zoster. (18619453)
2008
26
Hybrid approach for hypoplastic left heart syndrome: intermediate results after the learning curve. (18498821)
2008
27
Gene symbol: NOTCH3. Disease: CADASIL. (20960662)
2008
28
Structural diversity and evolution of the Rf-1 locus in the genus Oryza. (17622268)
2007
29
PPAR agonists in diabetic nephropathy. (17317713)
2007
30
Comparison of two automated immunohistochemical procedures for the diagnosis of scrapie in domestic sheep and chronic wasting disease in North American white-tailed deer (Odocoileus virginianus) and mule deer (Odocoileus hemionus). (16617694)
2006
31
Immunolocalization of estrogen and androgen receptors and steroid concentrations in the stallion epididymis. (16530259)
2006
32
Individual differences in the expression of tyrosine hydroxylase mRNA in neurosecretory neurons of the human paraventricular and supraoptic nuclei: positive correlation with vasopressin mRNA. (16210867)
2005
33
Yeast two-hybrid screening for proteins that interact with alpha1-adrenergic receptors. (15525470)
2004
34
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (12213769)
2002
35
Trapping of misdirected dendritic cells in the granulomatous lesions of giant cell arteritis. (12414528)
2002
36
No association between obsessive-compulsive disorder and the 5-HT(1Dbeta) receptor gene. (12359689)
2002
37
Gene transfer of hepatocyte growth factor to subarachnoid space in cerebral hypoperfusion model. (12019287)
2002
38
Platelet chemokines and their receptors: what is their relevance to platelet storage and transfusion practice? (11851938)
2001
39
Cutting edge: A/WySnJ transitional B cells overexpress the chromosome 15 proapoptotic Blk gene and succumb to premature apoptosis. (11714762)
2001
40
Vitro culture and immunohistochemical identification of astrocytes of infantile optic nerve. (12579649)
2000
41
Current perspectives on radiation-induced breast cancer. (9440762)
1998
42
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. (9618165)
1998
43
Cytokine priming reduces dependence on TNF-R2 for TNF-alpha-mediated induction of macrophage nitric oxide generation. (8974009)
1996
44
Inhibition of experimental proliferative vitreoretinopathy in rabbits by suramin. (8545096)
1995
45
Adenosine deaminase inhibitors: synthesis and structure-activity relationships of 2-hydroxy-3-nonyl derivatives of azoles. (8289197)
1994
46
Limited cytomegalovirus-specific immunoglobulin M and immunoglobulin G profiles in heart transplant recipients. (1659902)
1991
47
Dunaimycins, a new complex of spiroketal 24-membered macrolides with immunosuppressive activity. III. Immunosuppressive activities of dunaimycins. (1723403)
1991
48
Ketotifen-induced remission in progressive early diffuse scleroderma: evidence for the role of mast cells in disease pathogenesis. (2393046)
1990
49
A longitudinal study of a hyperlexic child: hyperlexia as a language disorder. (6504298)
1984
50
Early results of selective treatment of spina bifida cystica. (4586035)
1973

Variations for Nonsyndromic Deafness

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Clinvar genetic disease variations for Nonsyndromic Deafness:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A2NM_080680.2(COL11A2): c.109G> T (p.Ala37Ser)single nucleotide variantPathogenicrs606231410GRCh38Chr 6, 33189443: 33189443
2DCDC2NM_001195610.1(DCDC2): c.1271A> C (p.Gln424Pro)single nucleotide variantPathogenicrs794729665GRCh38Chr 6, 24178385: 24178385

Expression for genes affiliated with Nonsyndromic Deafness

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Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for genes affiliated with Nonsyndromic Deafness

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Pathways related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8GJB2, GJB3, GJB6

GO Terms for genes affiliated with Nonsyndromic Deafness

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Biological processes related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.3GJB2, GJB6
2sensory perception of light stimulusGO:005095310.2CDH23, PCDH15
3photoreceptor cell maintenanceGO:004549410.2CDH23, PCDH15
4sensory perception of soundGO:00076059.3COL11A2, DCDC2, GJB2, GJB3, GJB6, LRTOMT

Sources for Nonsyndromic Deafness

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet