MCID: ATS252
MIFTS: 31

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards integrated aliases for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

Name: Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 58 6
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb 58
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb 58
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive non-syndromic sensorineural deafness type dfnb
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases


External Ids:

ICD10 via Orphanet 33 H90.3
Orphanet 58 ORPHA90636

Summaries for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards based summary : Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb, also known as autosomal recessive non-syndromic neurosensory deafness type dfnb, is related to deafness, autosomal recessive 8 and deafness, autosomal recessive 7. An important gene associated with Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb is GPSM2 (G Protein Signaling Modulator 2). Affiliated tissues include eye, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 10.8 SLC26A4 LOXHD1
2 deafness, autosomal recessive 7 10.8 SLC26A4 CDH23
3 deafness, autosomal recessive 83 10.7 SLC26A4 GPSM2 CDH23
4 deafness, autosomal recessive 77 10.7 SLC26A4 LOXHD1 CDH23
5 deafness, autosomal dominant 2b 10.7 SLC26A4 ESPN CABP2
6 autosomal recessive nonsyndromic deafness 32 10.7 GPSM2 CDC14A
7 usher syndrome, type ik 10.7 CIB2 CDH23
8 autosomal recessive nonsyndromic deafness 3 10.7 SLC26A4 EPS8 CDH23
9 usher syndrome, type ih 10.7 CIB2 CDH23
10 deafness, autosomal dominant 43 10.7 ELMOD3 CABP2
11 baraitser-winter syndrome 10.7 SLC26A4 CIB2 CDH23
12 deafness, autosomal recessive 2 10.7 SLC26A4 CIB2 CDH23
13 autosomal recessive nonsyndromic deafness 10.7 SLC26A4 GPSM2 ELMOD3 CDH23
14 usher syndrome, type id 10.7 SLC26A4 CIB2 CDH23
15 deafness, autosomal recessive 12 10.7 SLC26A4 CEACAM16 CDH23
16 deafness, autosomal recessive 84b 10.7 COL11A2 CEACAM16
17 deafness, autosomal recessive 106 10.7 EPS8L2 EPS8
18 rare genetic deafness 10.7 SLC26A4 MYH9 LOXHD1 GPSM2 CDH23
19 hypomagnesemia 5, renal, with or without ocular involvement 10.7 CLDN14 BSND
20 usher syndrome, type iid 10.7 EPS8 CIB2 CDH23
21 autosomal dominant non-syndromic sensorineural deafness type dfna 10.7 MYH9 COL11A2 CEACAM16
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.7 SLC26A4 LOXHD1 COL11A2 CDH23
23 deafness, autosomal recessive 66 10.7 DCDC2 COL11A2 CEACAM16
24 branchiootic syndrome 1 10.7 SLC26A4 LOXHD1 GPSM2 EPS8 CDH23
25 deafness, autosomal recessive 102 10.7 EPS8 CLIC5
26 deafness, autosomal recessive 53 10.7 COL11A2 CEACAM16
27 deafness, autosomal dominant 13 10.7 COL11A2 CEACAM16
28 inner ear disease 10.7 SLC26A4 MYH9 CDH23
29 usher syndrome, type ij 10.7 CIB2 CDH23
30 usher syndrome, type i 10.7 SLC26A4 ESPN CIB2 CDH23
31 usher syndrome 10.7 SLC26A4 MYH9 ESPN CIB2 CDH23
32 deafness, autosomal recessive 39 10.7 LOXHD1 CLDN14
33 deafness, autosomal dominant 2a 10.7 ESPN BSND
34 perrault syndrome 10.7 CLDN14 CEACAM16 CDH23
35 hereditary hearing loss and deafness 10.7 ESPN COL11A2 CLDN14 CDH23 BSND
36 deafness, autosomal recessive 28 10.7 ESPN CABP2
37 deafness, autosomal dominant 36 10.7 SLC26A4 CDH23
38 usher syndrome type 2 10.7 SLC26A4 ESPN EPS8 CIB2 CDH23
39 deafness, autosomal recessive 10.7 LOXHD1 ESPN DCDC2 CIB2 CDC14A
40 deafness, autosomal recessive 84a 10.6 DCDC2 CDH23
41 deafness, autosomal dominant 20 10.6 ESPN CDH23
42 deafness, autosomal recessive 22 10.6 CEACAM16 CDH23
43 deafness, autosomal dominant 6 10.6 SLC26A4 COL11A2
44 deafness, autosomal recessive 30 10.6 ESPN EPS8
45 auditory system disease 10.6 SLC26A4 ESPN COL11A2 CLDN14 CIB2 CDH23
46 deafness, autosomal dominant 4b 10.6 COL11A2 CEACAM16
47 deafness, autosomal dominant 15 10.6 COL11A2 CLIC5
48 deafness, autosomal dominant 12 10.6 COL11A2 CEACAM16
49 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.5 COL11A2 CEACAM16
50 sensorineural hearing loss 10.5 SLC26A4 MYH9 ESPN COL11A2 CLDN14 CIB2

Graphical network of the top 20 diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:



Diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MGI Mouse Phenotypes related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADCY1 BSND CDH23 CEACAM16 CIB2 CLDN14
2 hearing/vestibular/ear MP:0005377 9.8 BSND CABP2 CDH23 CEACAM16 CIB2 CLDN14
3 nervous system MP:0003631 9.47 ADCY1 BSND CABP2 CDH23 CIB2 CLDN14

Drugs & Therapeutics for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Genetic Tests for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Anatomical Context for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards organs/tissues related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

40
Eye

Publications for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Articles related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

(show top 50) (show all 220)
# Title Authors PMID Year
1
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. 6
29572253 2018
2
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 6
29408807 2018
3
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 6
29048421 2018
4
CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 6
29293958 2018
5
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 6
27736875 2016
6
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia. 6
27766948 2016
7
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 6
27259055 2016
8
A Mayan founder mutation is a common cause of deafness in Guatemala. 6
26346709 2016
9
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 6
26805784 2016
10
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. 6
25941349 2015
11
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 6
25633957 2015
12
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 6
25601850 2015
13
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. 6
24781754 2015
14
TBC1D24-Related Disorders 6
25719194 2015
15
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
16
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. 6
24958875 2014
17
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 6
24482543 2014
18
A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. 6
24619944 2014
19
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. 6
24785414 2014
20
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. 6
24741995 2014
21
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 6
24387994 2014
22
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 6
24164807 2013
23
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. 6
23173898 2013
24
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 6
23768514 2013
25
The LINC complex is essential for hearing. 6
23348741 2013
26
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 6
24039609 2013
27
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 6
23122586 2012
28
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 6
23122587 2012
29
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. 6
23084290 2012
30
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 6
23023331 2012
31
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. 6
22575033 2012
32
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
33
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 6
22981119 2012
34
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 6
22678063 2012
35
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. 6
22211675 2012
36
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. 6
22246673 2012
37
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 6
21660509 2011
38
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. 6
21776002 2011
39
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 6
21465660 2011
40
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2. 6
21181198 2011
41
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 6
21165622 2011
42
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 6
21255762 2011
43
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 6
21326233 2011
44
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. 6
21185009 2011
45
A large cohort study of GJB2 mutations in Japanese hearing loss patients. 6
20497192 2010
46
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 6
20236118 2010
47
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 6
20132242 2010
48
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. 6
20451170 2010
49
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 6
20346435 2010
50
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 6
19888295 2010

Variations for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

ClinVar genetic disease variations for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPSM2 NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)SNV Pathogenic 1823 rs267606854 1:109440214-109440214 1:108897592-108897592
2 SLC26A4 NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)duplication Pathogenic 267322 rs1554358720 7:107330580-107330581 7:107690135-107690136
3 GPSM2 NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)SNV Pathogenic 402258 rs1060499797 1:109445771-109445771 1:108903149-108903149
4 MYH9 NM_002473.5(MYH9):c.5137A>G (p.Ser1713Gly)SNV Pathogenic 402285 rs764139009 22:36681924-36681924 22:36285878-36285878
5 LOXHD1 NM_144612.6(LOXHD1):c.3061+1G>ASNV Pathogenic/Likely pathogenic 523622 rs537227442 18:44140045-44140045 18:46560082-46560082

Expression for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Search GEO for disease gene expression data for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.

Pathways for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

GO Terms for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Cellular components related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.23 SLC26A4 MYH9 GPSM2 EPS8L2 EPS8 CLIC5
2 cytoskeleton GO:0005856 9.98 MYH9 GPSM2 ESPN ELMOD3 DCDC2 CLIC5
3 cell projection GO:0042995 9.92 LOXHD1 ESPN EPS8L2 EPS8 ELMOD3 DCDC2
4 cell cortex GO:0005938 9.67 MYH9 GPSM2 EPS8 CLIC5
5 brush border GO:0005903 9.58 MYH9 ESPN EPS8
6 stereocilium bundle GO:0032421 9.43 ESPN EPS8L2 EPS8
7 stereocilium tip GO:0032426 9.35 ESPN EPS8L2 EPS8 CEACAM16 CDC14A
8 kinocilium GO:0060091 9.33 ELMOD3 DCDC2 CDC14A
9 stereocilium GO:0032420 9.23 LOXHD1 ESPN EPS8L2 EPS8 ELMOD3 CIB2

Biological processes related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.36 SLC26A4 LOXHD1 ESPN EPS8L2 DCDC2 COL11A2
2 positive regulation of ruffle assembly GO:1900029 9.16 EPS8L2 EPS8
3 chloride transmembrane transport GO:1902476 9.13 SLC26A4 CLIC5 BSND

Molecular functions related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rac guanyl-nucleotide exchange factor activity GO:0030676 8.62 EPS8L2 EPS8

Sources for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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