MCID: HRD199
MIFTS: 21

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 24 29 6

Classifications:



Summaries for Hereditary Hearing Loss and Deafness

MalaCards based summary : Hereditary Hearing Loss and Deafness is related to x-linked non-syndromic sensorineural deafness type dfn and deafness, x-linked 4. An important gene associated with Hereditary Hearing Loss and Deafness is COL4A3 (Collagen Type IV Alpha 3 Chain). Affiliated tissues include testes, and related phenotypes are behavior/neurological 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 95)
# Related Disease Score Top Affiliating Genes
1 x-linked non-syndromic sensorineural deafness type dfn 30.6 SMPX PRPS1
2 deafness, x-linked 4 30.4 SMPX PRPS1 POU3F4
3 deafness, x-linked 1 30.4 SMPX PRPS1 POU3F4
4 deafness, autosomal recessive 49 30.3 POU3F4 CLDN14
5 deafness, autosomal dominant 2b 30.3 COCH CCDC50
6 deafness, autosomal dominant 25 30.2 COCH CCDC50
7 deafness, autosomal dominant 10 30.1 COL11A2 CCDC50
8 deafness, autosomal dominant 1 30.1 ESPN DIAPH1
9 deafness, autosomal dominant 9 30.1 COL11A2 COCH
10 deafness, x-linked 2 30.0 SMPX PRPS1 POU3F4 COCH
11 deafness, autosomal dominant 44 30.0 COL11A2 COCH CCDC50
12 deafness, autosomal dominant 11 30.0 COCH CDH23
13 deafness, autosomal dominant 13 30.0 COL11A2 COCH CCDC50
14 deafness, autosomal dominant 15 30.0 COL11A2 COCH CCDC50
15 deafness, autosomal dominant 12 30.0 COL11A2 COCH CCDC50
16 deafness, autosomal dominant 20 29.9 SMPX COCH CDH23 ACTG1
17 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 29.7 POU3F4 COL11A2 COCH CDH23
18 deafness, autosomal dominant 2a 29.6 ESPN COCH CCDC50 BSND
19 deafness, autosomal dominant 6 29.6 DIAPH1 COL11A2 COCH CDH23
20 autosomal dominant non-syndromic sensorineural deafness type dfna 29.5 PLS1 COL11A2 COCH CCDC50 ACTG1
21 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.2 ESRRB ESPN COL11A2 CLDN14 CDH23 BSND
22 alport syndrome 3, autosomal dominant 10.5 MFF-DT COL4A3
23 autosomal dominant alport syndrome 10.4 MFF-DT COL4A3
24 hearing loss, noise-induced 10.4 KCNE1 CDH23
25 charcot-marie-tooth disease x-linked recessive 4 10.4 SF3B4 PRPS1
26 y-linked monogenic disease 10.3 POU3F4 CDH23
27 charcot-marie-tooth disease, x-linked dominant, 6 10.3 SMPX PRPS1
28 deafness, x-linked 3 10.3 SMPX PRPS1 POU3F4
29 deafness, x-linked 5, with peripheral neuropathy 10.3 SMPX PRPS1 POU3F4
30 deafness, x-linked 6 10.3 SMPX PRPS1 POU3F4
31 deafness, autosomal dominant 43 10.3 COCH CCDC50
32 charcot-marie-tooth disease, x-linked recessive, 5 10.3 SMPX PRPS1 POU3F4
33 deafness, autosomal dominant 18 10.3 COCH CCDC50
34 hypomagnesemia 5, renal, with or without ocular involvement 10.3 CLDN14 BSND
35 x-linked nonsyndromic deafness 10.3 SMPX PRPS1 POU3F4
36 deafness, autosomal dominant 16 10.2 COCH CCDC50
37 deafness, autosomal recessive 53 10.2 COL11A2 CCDC50
38 deafness, autosomal dominant 51 10.2 SMPX CLDN14 CCDC50
39 wolfram syndrome 1 10.1
40 branchiootic syndrome 1 10.1
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
42 autosomal recessive nonsyndromic deafness 36 10.1 ESPN CDH23
43 deafness, autosomal recessive 98 10.1 KCNE1 CLDN14
44 arts syndrome 10.1 PRPS1 POU3F4
45 deafness, autosomal recessive 1b 10.1 SMPX POU3F4 ESPN
46 vestibular disease 10.0 POU3F4 KCNE1 COCH CDH23
47 deafness, autosomal recessive 1a 10.0
48 pendred syndrome 10.0
49 deafness, nonsyndromic sensorineural, mitochondrial 10.0
50 deafness, aminoglycoside-induced 10.0

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ACTG1 ATP2B2 BSND CDH23 CLDN14 COL11A2
2 hearing/vestibular/ear MP:0005377 9.4 ACTG1 ATP2B2 BSND CDH23 CLDN14 COCH

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

MalaCards organs/tissues related to Hereditary Hearing Loss and Deafness:

40
Testes

Publications for Hereditary Hearing Loss and Deafness

Articles related to Hereditary Hearing Loss and Deafness:

(show all 27)
# Title Authors PMID Year
1
Hereditary Hearing Loss and Deafness Overview 6 61
20301607 1999
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
3
Universal screening for hearing loss in newborns: US Preventive Services Task Force recommendation statement. 6
18595997 2008
4
Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation. 24
28322114 2017
5
The genetic basis of deafness in populations of African descent. 24
28642064 2017
6
Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. 24
28213135 2017
7
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 24
28000701 2017
8
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient. 24
27729144 2016
9
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 24
26969326 2016
10
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. 24
26084827 2015
11
School performance and wellbeing of children with CI in different communicative-educational environments. 24
25840945 2015
12
Valganciclovir for symptomatic congenital cytomegalovirus disease. 24
25738669 2015
13
Copy number variants are a common cause of non-syndromic hearing loss. 24
24963352 2014
14
Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations. 24
23477838 2013
15
Current concepts in age-related hearing loss: epidemiology and mechanistic pathways. 24
23422312 2013
16
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. 24
23280582 2013
17
The children speak: an examination of the quality of life of pediatric cochlear implant users. 24
20115983 2010
18
Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. 24
17579921 2007
19
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 24
17503324 2007
20
Mitochondrial deafness. 24
17489842 2007
21
Sensorineural hearing loss in children. 24
15752533 2005
22
The effect of GJB2 allele variants on performance after cochlear implantation. 24
14660916 2003
23
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 24
10577941 1999
24
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 24
10376574 1999
25
Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. 24
9443888 1998
26
Guide for the evaluation of hearing handicap. 24
430800 1979
27
Hereditary hearing loss and deafness genes in Japan. 61
20437760 2010

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 GRCh37 Pos GRCh38 Pos
1 SF3B4 NM_005850.5(SF3B4):c.827del (p.Pro276fs)deletion Pathogenic 446295 rs797045128 1:149897814-149897814 1:149925922-149925922
2 COL4A3 NM_000091.5(COL4A3):c.387+1G>ASNV Pathogenic 812587 2:228110733-228110733 2:227246017-227246017
3 KCNE1 NM_000219.6(KCNE1):c.94dup (p.Arg32fs)duplication Pathogenic 812588 21:35821838-35821839 21:34449540-34449541
4 PLS1 NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)SNV Conflicting interpretations of pathogenicity 632608 3:142403154-142403154 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

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 extracellular matrix GO:0031012 8.92 DSPP COL4A3 COL11A2 COCH

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.32 POU3F4 KCNE1 ESPN DIAPH1 COL4A3 COL11A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 DSPP COL4A3 COL11A2

Sources for Hereditary Hearing Loss and 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
41 MedGen
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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