MCID: HRD199
MIFTS: 24

Hereditary Hearing Loss and Deafness

Categories: Ear diseases

Aliases & Classifications for Hereditary Hearing Loss and Deafness

MalaCards integrated aliases for Hereditary Hearing Loss and Deafness:

Name: Hereditary Hearing Loss and Deafness 25 29 6

Classifications:



Summaries for Hereditary Hearing Loss and Deafness

MalaCards based summary : Hereditary Hearing Loss and Deafness is related to deafness, autosomal dominant 43 and charcot-marie-tooth disease, x-linked dominant, 6. An important gene associated with Hereditary Hearing Loss and Deafness is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Related phenotypes are craniofacial and hearing/vestibular/ear

GeneReviews: NBK1434

Related Diseases for Hereditary Hearing Loss and Deafness

Diseases related to Hereditary Hearing Loss and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 43 10.4 COCH CCDC50
2 charcot-marie-tooth disease, x-linked dominant, 6 10.4 SMPX PRPS1
3 x-linked charcot-marie-tooth disease 10.4 PRPS1 GJB2
4 hypomagnesemia 5, renal, with or without ocular involvement 10.3 CLDN14 BSND
5 deafness, autosomal dominant 20 10.3 SMPX CDH23 ACTG1
6 deafness, autosomal dominant 21 10.3 EYA4 COL11A2
7 x-linked non-syndromic sensorineural deafness type dfn 10.3 SMPX PRPS1
8 autosomal recessive nonsyndromic deafness 3 10.3 GJB2 CDH23
9 hypotrichosis-deafness syndrome 10.3 GJB3 GJB2
10 nonsyndromic hearing loss and deafness, dfna3 10.3 GJB6 GJB2
11 cogan syndrome 10.3 GJB2 COCH
12 deafness, autosomal dominant 56 10.3 GJB2 COCH
13 deafness, autosomal dominant 28 10.3 EYA4 COCH
14 purulent labyrinthitis 10.3 GJB6 GJB2
15 viral labyrinthitis 10.3 GJB6 GJB2
16 deafness, autosomal recessive 7 10.3 GJB2 CDH23
17 hereditary lymphedema ic 10.3 GJB3 GJB2
18 deafness, autosomal recessive 77 10.3 GJB2 CDH23
19 erythrokeratoderma 10.3 GJB3 GJB2
20 deafness, autosomal dominant 44 10.3 EYA4 COL11A2 CCDC50
21 deafness, autosomal dominant 13 10.3 EYA4 COL11A2 CCDC50
22 deafness, autosomal dominant 24 10.3 GJB3 COCH CCDC50
23 deafness, autosomal recessive 39 10.3 GJB2 CLDN14
24 deafness, autosomal dominant 41 10.3 GJB2 CDH23
25 deafness, autosomal recessive 79 10.3 SMPX GJB2
26 deafness, autosomal dominant 16 10.3 GJB3 COCH CCDC50
27 congenital cytomegalovirus 10.3 GJB6 GJB2
28 drug-induced hearing loss 10.2 GJB3 GJB2
29 deafness, autosomal dominant 10 10.2 EYA4 COL11A2 CCDC50
30 deafness, autosomal recessive 35 10.2 ESRRB CDH23
31 deafness, autosomal dominant 6 10.2 GJB2 COL11A2 CDH23
32 deafness, autosomal dominant 11 10.2 GJB2 COL11A2 CDH23
33 deafness, autosomal dominant 36 10.2 GJB2 ESPN CDH23
34 non-syndromic genetic deafness 10.2 GJB2 COCH CDH23
35 deafness, autosomal recessive 16 10.2 GJB2 CDH23
36 usher syndrome, type id 10.2 GJB2 ESPN CDH23
37 branchiootic syndrome 1 10.2
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
39 usher syndrome, type ic 10.2 GJB2 CDH23
40 hearing loss, noise-induced 10.2 KCNE1 CDH23
41 labyrinthitis 10.2 GJB6 GJB2 COCH
42 stickler syndrome 10.2 GJB2 COL11A2 CDH23
43 y-linked monogenic disease 10.2 POU3F4 CDH23
44 deafness, autosomal dominant 51 10.2 SMPX GJB3 CLDN14 CCDC50
45 pseudoainhum 10.2 GJB6 GJB3 GJB2
46 nonsyndromic hearing loss and deafness, dfnb1 10.2 GJB6 GJB3 GJB2
47 dfnb1 10.2 GJB6 GJB3 GJB2
48 deafness, x-linked 3 10.2 SMPX PRPS1 POU3F4
49 deafness, x-linked 6 10.2 SMPX PRPS1 POU3F4
50 deafness, x-linked 1 10.2 SMPX PRPS1 POU3F4

Graphical network of the top 20 diseases related to Hereditary Hearing Loss and Deafness:



Diseases related to Hereditary Hearing Loss and Deafness

Symptoms & Phenotypes for Hereditary Hearing Loss and Deafness

MGI Mouse Phenotypes related to Hereditary Hearing Loss and Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 ACTG1 CDH23 COL11A2 EYA4 GJB2 POU3F4
2 hearing/vestibular/ear MP:0005377 9.47 ACTG1 BSND CDH23 CLDN14 COCH COL11A2

Drugs & Therapeutics for Hereditary Hearing Loss and Deafness

Search Clinical Trials , NIH Clinical Center for Hereditary Hearing Loss and Deafness

Genetic Tests for Hereditary Hearing Loss and Deafness

Genetic tests related to Hereditary Hearing Loss and Deafness:

# Genetic test Affiliating Genes
1 Hereditary Hearing Loss and Deafness 29 POU3F4 PRPS1 SMPX

Anatomical Context for Hereditary Hearing Loss and Deafness

Publications for Hereditary Hearing Loss and Deafness

Articles related to Hereditary Hearing Loss and Deafness:

(show all 25)
# Title Authors PMID Year
1
Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation. 25
28322114 2017
2
The genetic basis of deafness in populations of African descent. 25
28642064 2017
3
Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. 25
28213135 2017
4
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 25
28000701 2017
5
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient. 25
27729144 2016
6
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 25
26969326 2016
7
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. 25
26084827 2015
8
School performance and wellbeing of children with CI in different communicative-educational environments. 25
25840945 2015
9
Valganciclovir for symptomatic congenital cytomegalovirus disease. 25
25738669 2015
10
Copy number variants are a common cause of non-syndromic hearing loss. 25
24963352 2014
11
Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations. 25
23477838 2013
12
Current concepts in age-related hearing loss: epidemiology and mechanistic pathways. 25
23422312 2013
13
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. 25
23280582 2013
14
The children speak: an examination of the quality of life of pediatric cochlear implant users. 25
20115983 2010
15
Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. 25
17579921 2007
16
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 25
17503324 2007
17
Mitochondrial deafness. 25
17489842 2007
18
Sensorineural hearing loss in children. 25
15752533 2005
19
The effect of GJB2 allele variants on performance after cochlear implantation. 25
14660916 2003
20
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 25
10577941 1999
21
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 25
10376574 1999
22
Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. 25
9443888 1998
23
Guide for the evaluation of hearing handicap. 25
430800 1979
24
Hereditary hearing loss and deafness genes in Japan. 61
20437760 2010
25
Hereditary Hearing Loss and Deafness Overview 61
20301607 1999

Variations for Hereditary Hearing Loss and Deafness

ClinVar genetic disease variations for Hereditary Hearing Loss and Deafness:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.387+1G>A SNV Pathogenic 812587 rs1574674108 GRCh37: 2:228110733-228110733
GRCh38: 2:227246017-227246017
2 KCNE1 NM_000219.6(KCNE1):c.94dup (p.Arg32fs) Duplication Pathogenic 812588 rs1601044831 GRCh37: 21:35821838-35821839
GRCh38: 21:34449540-34449541
3 SF3B4 NM_005850.5(SF3B4):c.827del (p.Pro276fs) Deletion Pathogenic 446295 rs797045128 GRCh37: 1:149897814-149897814
GRCh38: 1:149925922-149925922
4 PLS1 NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys) SNV Uncertain significance 632608 rs1577888985 GRCh37: 3:142403154-142403154
GRCh38: 3:142684312-142684312

Expression for Hereditary Hearing Loss and Deafness

Search GEO for disease gene expression data for Hereditary Hearing Loss and Deafness.

Pathways for Hereditary Hearing Loss and Deafness

Pathways related to Hereditary Hearing Loss and Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 GJB6 GJB3 GJB2 ACTG1
2
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Hereditary Hearing Loss and Deafness

Cellular components related to Hereditary Hearing Loss and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
2 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Hereditary Hearing Loss and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction assembly GO:0016264 9.37 GJB6 GJB2
2 sensory perception of sound GO:0007605 9.36 POU3F4 KCNE1 GJB6 GJB2 EYA4 ESPN
3 inner ear development GO:0048839 9.35 POU3F4 GJB6 GJB2 EYA4 ESRRB
4 cell communication GO:0007154 9.33 GJB6 GJB3 GJB2
5 cell communication by electrical coupling GO:0010644 9.32 GJB6 GJB2
6 gap junction-mediated intercellular transport GO:1990349 9.26 GJB6 GJB2

Molecular functions related to Hereditary Hearing Loss and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Hereditary Hearing Loss and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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