MCID: NNS007
MIFTS: 47

Nonsyndromic Deafness

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

Aliases & Classifications for Nonsyndromic Deafness

MalaCards integrated aliases for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 12 74 25 29 6 15 17 71
Nonsyndromic Hearing Loss 12 25 29 6
Nonsyndromic Hearing Loss and Deafness 25 29 6
Nonsyndromic Hereditary Hearing Loss 12
Nonsyndromic Hearing Impairment 25
Deafness, Nonsyndromic 39
Isolated Deafness 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050563
UMLS 71 C3711374

Summaries for Nonsyndromic Deafness

Genetics Home Reference : 25 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. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones. Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss. Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.

MalaCards based summary : Nonsyndromic Deafness, also known as nonsyndromic hearing loss, is related to autosomal recessive nonsyndromic deafness and nonsyndromic hearing loss and deafness, dfnb1. An important gene associated with Nonsyndromic Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include bone, brain and testes, and related phenotypes are hearing/vestibular/ear and behavior/neurological

Disease Ontology : 12 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 : 74 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Related Diseases for Nonsyndromic Deafness

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

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

(show top 50) (show all 329)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 35.3 TRIOBP TMC1 SLC26A4 PCDH15 OTOG MYO7A
2 nonsyndromic hearing loss and deafness, dfnb1 35.2 GJB6 GJB2
3 autosomal recessive nonsyndromic deafness 3 35.2 TMC1 SLC26A4 MYO7A MYO3A MYO15A GJB2
4 autosomal dominant nonsyndromic deafness 35.1 USH2A TRIOBP TMC1 SLC26A4 PCDH15 OTOG
5 x-linked nonsyndromic deafness 35.1 SLC26A4 GJB6 GJB2
6 autosomal recessive nonsyndromic deafness 36 34.9 TRIOBP PCDH15 MYO3A
7 deafness, autosomal recessive 2 34.4 TMC1 SLC26A4 PCDH15 MYO7A MYO15A GJB2
8 deafness, autosomal dominant 9 34.4 PCDH15 MYO7A KCNQ4 GJB2 COL11A2 COCH
9 deafness, autosomal recessive 23 34.4 TMC1 PCDH15 MYO7A MYO15A GJB2 CDH23
10 deafness, autosomal dominant 36 34.4 TMC1 SLC26A4 PCDH15 MYO15A GJB2 CDH23
11 deafness, autosomal recessive 7 34.4 TMC1 SLC26A4 MYO15A LRTOMT GJB2 CDH23
12 deafness, autosomal recessive 8 34.4 TMC1 SLC26A4 MYO15A GJB2
13 deafness, autosomal recessive 1a 34.4 TMC1 SLC26A4 GJB6 GJB2 COCH
14 deafness, autosomal dominant 1 34.4 MYO7A MYO3A MYO15A GJB2
15 deafness, autosomal recessive 63 34.4 TMC1 MYO7A MYO15A LRTOMT
16 deafness, autosomal dominant 17 34.3 PCDH15 MYO7A MYO3A MYO15A COCH
17 deafness, autosomal recessive 12 34.3 USH2A TRIOBP TMC1 SLC26A4 PCDH15 MYO7A
18 deafness, autosomal dominant 25 34.3 MYO7A KCNQ4 GJB2 COCH CEACAM16
19 deafness, autosomal dominant 12 34.3 OTOG KCNQ4 COL11A2 COCH CEACAM16
20 deafness, autosomal recessive 30 34.3 PCDH15 MYO7A MYO3A MYO15A
21 deafness, autosomal recessive 79 34.3 TMC1 MYO3A MYO15A GJB2 CEACAM16
22 deafness, autosomal recessive 48 34.2 TMC1 MYO7A
23 deafness, autosomal dominant 6 34.1 SLC26A4 MYO7A KCNQ4 GJB2 COL11A2 COCH
24 deafness, autosomal recessive 16 34.1 TMC1 PCDH15 MYO15A GJB2 CDH23
25 deafness, autosomal recessive 9 34.1 TMC1 SLC26A4 MYO7A MYO15A GJB2
26 deafness, autosomal dominant 11 34.1 PCDH15 MYO7A MYO3A MYO15A GJB2 COCH
27 deafness, autosomal dominant 2b 34.1 TRIOBP SLC26A4 KCNQ4 GJB2
28 deafness, autosomal recessive 83 34.1 SLC26A4 MYO7A MYO15A CDH23
29 deafness, autosomal recessive 6 34.1 TRIOBP TMC1 LRTOMT
30 deafness, autosomal recessive 35 34.0 TRIOBP MYO15A LRTOMT
31 deafness, autosomal dominant 4b 34.0 OTOG KCNQ4 GJB2 COL11A2 CEACAM16
32 deafness, autosomal dominant 3a 34.0 GJB6 GJB2 COCH
33 deafness, autosomal dominant 15 34.0 MYO7A KCNQ4 COL11A2 COCH
34 deafness, autosomal recessive 21 34.0 OTOG MYO15A GJB2 CEACAM16
35 deafness, autosomal dominant 13 34.0 OTOG KCNQ4 COL11A2 COCH CEACAM16
36 deafness, autosomal dominant 2a 34.0 KCNQ4 GJB2 COCH
37 deafness, autosomal dominant 18 34.0 KCNQ4 COL11A2 COCH
38 deafness, autosomal recessive 49 34.0 MYO15A GJB2
39 deafness, autosomal recessive 37 34.0 TRIOBP MYO7A MYO3A MYO15A
40 deafness, autosomal dominant 56 34.0 USH2A SLC26A4 GJB2 COCH
41 deafness, autosomal dominant 64 34.0 KCNQ4 GJB6 GJB2 CEACAM16
42 deafness, autosomal dominant 22 34.0 TRIOBP MYO7A MYO3A MYO15A
43 deafness, autosomal recessive 77 34.0 SLC26A4 MYO3A GJB2 CDH23
44 deafness, autosomal recessive 22 34.0 TRIOBP MYO15A CEACAM16 CDH23
45 deafness, autosomal dominant 24 34.0 GJB6 GJB2
46 deafness, autosomal dominant 48 34.0 MYO7A MYO3A MYO15A
47 deafness, autosomal recessive 1b 34.0 GJB6 GJB2 CEACAM16
48 deafness, autosomal dominant 3b 34.0 GJB6 GJB2 CEACAM16
49 deafness, autosomal recessive 84b 34.0 OTOG COL11A2 CEACAM16
50 deafness, autosomal recessive 53 34.0 OTOG COL11A2 CEACAM16

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



Diseases related to Nonsyndromic Deafness

Symptoms & Phenotypes for Nonsyndromic Deafness

MGI Mouse Phenotypes related to Nonsyndromic Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.11 CDH23 CEACAM16 COCH COL11A2 GJB2 GJB6
2 behavior/neurological MP:0005386 10.1 CDH23 CEACAM16 COL11A2 DCDC2 GJB6 LRTOMT
3 nervous system MP:0003631 9.86 CDH23 DCDC2 GJB2 GJB6 KCNQ4 LRTOMT
4 vision/eye MP:0005391 9.23 CDH23 CEACAM16 GJB2 MITF MYO15A MYO7A

Drugs & Therapeutics for Nonsyndromic Deafness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Active, not recruiting NCT00341874

Search NIH Clinical Center for Nonsyndromic Deafness

Genetic Tests for Nonsyndromic Deafness

Genetic tests related to Nonsyndromic Deafness:

# Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness 29
2 Nonsyndromic Deafness 29
3 Nonsyndromic Hearing Loss 29

Anatomical Context for Nonsyndromic Deafness

MalaCards organs/tissues related to Nonsyndromic Deafness:

40
Bone, Brain, Testes, Eye, Skin, Retina, Thyroid

Publications for Nonsyndromic Deafness

Articles related to Nonsyndromic Deafness:

(show top 50) (show all 756)
# Title Authors PMID Year
1
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss. 61
31858762 2020
2
Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir. 61
31875531 2020
3
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. 61
31827252 2020
4
G130V de novo mutation in case with nonsyndromic hearing loss without palmoplantar keratoderma. 61
31785923 2020
5
Mutation Analysis Using Multiplex Ligation-Dependent Probe Amplification in Consanguineous Families in South India with a Child with Profound Hearing Impairment. 61
31150550 2020
6
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. 61
31972369 2020
7
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. 61
31997689 2020
8
Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice. 61
30159668 2019
9
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. 61
31273342 2019
10
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population. 61
31854501 2019
11
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus. 61
31586237 2019
12
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. 61
31397523 2019
13
G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma. 61
31419744 2019
14
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 61
31160754 2019
15
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. 61
31116475 2019
16
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. 61
31175426 2019
17
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. 61
31226716 2019
18
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. 61
31389194 2019
19
The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. 61
31200317 2019
20
Mice heterozygous for the Cdh23/Ahl1 mutation show age-related deficits in auditory temporal processing. 61
31247458 2019
21
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations. 61
31512227 2019
22
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. 61
31393079 2019
23
Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway. 61
31198993 2019
24
Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. 61
31427568 2019
25
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing. 61
31250571 2019
26
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. 61
31103816 2019
27
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. 61
31035178 2019
28
Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China. 61
31107121 2019
29
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss. 61
31028865 2019
30
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. 61
31016883 2019
31
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. 61
31035849 2019
32
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. 61
30826590 2019
33
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. 61
30245510 2019
34
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness. 61
30740825 2019
35
[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong]. 61
31030427 2019
36
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. 61
30245514 2019
37
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. 61
30582396 2019
38
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. 61
30872718 2019
39
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. 61
30514912 2019
40
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. 61
30896630 2019
41
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1. 61
30874365 2019
42
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. 61
30556268 2019
43
Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss. 61
30758234 2019
44
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. 61
30461122 2019
45
Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss. 61
30579064 2019
46
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. 61
30446579 2019
47
A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family. 61
31661684 2019
48
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. 61
30816908 2019
49
The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis. 61
30367262 2019
50
Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population. 61
29773520 2019

Variations for Nonsyndromic Deafness

ClinVar genetic disease variations for Nonsyndromic Deafness:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080679.2(COL11A2):c.109G>T (p.Ala37Ser)SNV Pathogenic 160366 rs606231410 6:33157220-33157220 6:33189443-33189443
2 DCDC2 NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)SNV Pathogenic 161160 rs794729665 6:24178613-24178613 6:24178385-24178385
3 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
4 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
5 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
6 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
7 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
8 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
9 TRIOBP NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)SNV Pathogenic 165613 rs727503528 22:38165057-38165057 22:37769050-37769050
10 MYO15A NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)deletion Pathogenic 179619 rs727504995 17:18046095-18046095 17:18142781-18142781
11 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
12 COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser)SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640
13 KARS1 NM_001130089.1(KARS1):c.517T>C (p.Tyr173His)SNV Pathogenic 60752 rs397514745 16:75670401-75670401 16:75636503-75636503
14 USH2A NM_206933.3(USH2A):c.9685del (p.Glu3229fs)deletion Pathogenic 236049 rs878853233 1:215987132-215987132 1:215813790-215813790
15 CEACAM16 NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)SNV Pathogenic 236048 rs746164064 19:45208901-45208901 19:44705631-44705631
16 MYO3A NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)SNV Pathogenic 617675 rs1564573788 10:26414513-26414513 10:26125584-26125584
17 KCNQ4 NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)SNV Likely pathogenic 505302 rs956666801 1:41285135-41285135 1:40819463-40819463
18 CEACAM16 NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)duplication Likely pathogenic 804341 19:45211310-45211311 19:44708038-44708039
19 PCDH15 NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)duplication Likely pathogenic 432938 rs774056663 10:55583016-55583017 10:53823256-53823257
20 GJB3 NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)SNV Likely pathogenic 561271 rs144964568 1:35251066-35251066 1:34785465-34785465
21 GJB6 NM_001110219.3(GJB6):c.487del (p.Leu163fs)deletion Likely pathogenic 561265 rs1566538321 13:20797133-20797133 13:20222994-20222994
22 GJB6 NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)SNV Likely pathogenic 561270 rs772862268 13:20797298-20797298 13:20223159-20223159
23 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
24 MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)SNV Likely pathogenic 178957 rs727504567 6:76538307-76538307 6:75828590-75828590
25 GJB2 NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)SNV Conflicting interpretations of pathogenicity 44755 rs34988750 13:20763243-20763243 13:20189104-20189104
26 OTOF NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)SNV Conflicting interpretations of pathogenicity 48258 rs111033330 2:26684765-26684765 2:26461897-26461897
27 GJB2 NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)SNV Uncertain significance 437829 rs765921870 13:20763456-20763456 13:20189317-20189317
28 GJB2 NM_004004.6(GJB2):c.677T>G (p.Val226Gly)SNV Uncertain significance 447450 rs773846324 13:20763044-20763044 13:20188905-20188905
29 GJB2 NM_004004.6(GJB2):c.677T>A (p.Val226Asp)SNV Uncertain significance 585322 rs773846324 13:20763044-20763044 13:20188905-20188905
30 GJB2 NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)SNV Uncertain significance 585327 rs752812448 13:20763068-20763068 13:20188929-20188929
31 GJB2 NM_004004.6(GJB2):c.-22-2A>CSNV Uncertain significance 375406 rs201895089 13:20763744-20763744 13:20189605-20189605
32 MYO7A NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)SNV Uncertain significance 517357 rs782311929 11:76883813-76883813 11:77172767-77172767
33 GJB2 NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)SNV Uncertain significance 555720 rs1555341782 13:20763047-20763047 13:20188908-20188908
34 MITF NM_000248.3(MITF):c.710C>T (p.Pro237Leu)SNV Uncertain significance 800541 3:70005681-70005681 3:69956530-69956530
35 COCH NM_004086.3(COCH):c.355G>A (p.Ala119Thr)SNV Uncertain significance 6613 rs121908931 14:31348132-31348132 14:30878926-30878926
36 GJB2 NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)SNV Uncertain significance 158604 rs587783644 13:20763614-20763614 13:20189475-20189475
37 MYO7A NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)SNV Uncertain significance 43134 rs45629132 11:76870496-76870496 11:77159450-77159450
38 MYO6 NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)SNV Likely benign 164639 rs141845119 6:76599951-76599951 6:75890234-75890234
39 TECTA NM_005422.2(TECTA):c.701A>G (p.Gln234Arg)SNV Likely benign 178532 rs144682235 11:120984338-120984338 11:121113629-121113629
40 TECTA NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His)SNV Likely benign 165370 rs144343770 11:121039471-121039471 11:121168762-121168762
41 TECTA NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp)SNV Likely benign 178538 rs142486386 11:121008285-121008285 11:121137576-121137576
42 TECTA NM_005422.2(TECTA):c.3492C>T (p.Thr1164=)SNV Likely benign 178539 rs144012985 11:121008680-121008680 11:121137971-121137971
43 TECTA NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys)SNV Likely benign 45317 rs139165033 11:120998747-120998747 11:121128038-121128038
44 KCNQ4 NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)SNV Likely benign 227469 rs752131356 1:41285030-41285030 1:40819358-40819358
45 TECTA NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu)SNV Likely benign 287165 rs148619105 11:121016724-121016724 11:121146015-121146015
46 COCH NM_004086.3(COCH):c.429A>G (p.Pro143=)SNV Benign 227258 rs147841606 14:31348684-31348684 14:30879478-30879478
47 COCH NM_004086.3(COCH):c.841G>A (p.Asp281Asn)SNV Benign 226529 rs28362775 14:31354707-31354707 14:30885501-30885501
48 MYO6 NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)SNV Benign 45131 rs145564837 6:76558195-76558195 6:75848478-75848478
49 MYO6 NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)SNV Benign 45163 rs201507590 6:76542642-76542642 6:75832925-75832925
50 TECTA NM_005422.2(TECTA):c.1111A>G (p.Arg371Gly)SNV Benign 45314 rs612969 11:120989335-120989335 11:121118626-121118626

Expression for Nonsyndromic Deafness

Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for Nonsyndromic Deafness

GO Terms for Nonsyndromic Deafness

Cellular components related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.55 USH2A SLC26A4 OTOG MYO7A GJB6
2 myosin complex GO:0016459 9.43 MYO7A MYO3A MYO15A
3 connexin complex GO:0005922 9.37 GJB6 GJB2
4 stereocilium bundle GO:0032421 9.32 USH2A MYO15A
5 stereocilium tip GO:0032426 9.13 TMC1 MYO3A CEACAM16
6 stereocilium GO:0032420 9.02 PCDH15 MYO7A MYO3A MYO15A CDH23

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.77 USH2A PCDH15 MYO7A MYO3A CDH23
2 locomotory behavior GO:0007626 9.73 PCDH15 MYO15A CDH23
3 inner ear morphogenesis GO:0042472 9.71 MYO7A MYO15A KCNQ4
4 photoreceptor cell maintenance GO:0045494 9.61 USH2A PCDH15 CDH23
5 inner ear receptor cell stereocilium organization GO:0060122 9.58 PCDH15 MYO7A CDH23
6 sensory perception of sound GO:0007605 9.58 USH2A TRIOBP TMC1 SLC26A4 PCDH15 OTOG
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.57 TMC1 PCDH15
8 inner ear development GO:0048839 9.56 PCDH15 MYO7A GJB6 GJB2
9 gap junction assembly GO:0016264 9.55 GJB6 GJB2
10 auditory receptor cell development GO:0060117 9.52 TMC1 LRTOMT
11 inner ear receptor cell differentiation GO:0060113 9.51 USH2A MYO7A
12 auditory receptor cell stereocilium organization GO:0060088 9.5 TRIOBP PCDH15 MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.49 PCDH15 MYO7A
14 cell communication by electrical coupling GO:0010644 9.48 GJB6 GJB2
15 gap junction-mediated intercellular transport GO:1990349 9.46 GJB6 GJB2
16 equilibrioception GO:0050957 9.33 PCDH15 MYO7A CDH23
17 sensory perception of light stimulus GO:0050953 9.26 USH2A PCDH15 MYO7A CDH23

Molecular functions related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.5 MYO7A MYO3A MYO15A
2 microfilament motor activity GO:0000146 9.37 MYO7A MYO3A
3 gap junction channel activity GO:0005243 9.26 GJB6 GJB2
4 calmodulin binding GO:0005516 9.26 MYO7A MYO3A MYO15A KCNQ4
5 actin-dependent ATPase activity GO:0030898 9.16 MYO7A MYO3A
6 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.62 GJB6 GJB2

Sources for Nonsyndromic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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