MCID: SNS001
MIFTS: 59

Sensorineural Hearing Loss

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sensorineural Hearing Loss

MalaCards integrated aliases for Sensorineural Hearing Loss:

Name: Sensorineural Hearing Loss 12 73 29 6 15 17 70
Sensory Hearing Loss 12 54 70
High Frequency Hearing Loss 12 6
Hearing Loss, Sensorineural 44 39
Perceptive Hearing Loss or Deafness 12
Hearing Loss, High-Frequency 70
High-Frequency Hearing Loss 12
Hearing Loss High-Frequency 54
Hearing Loss Sensorineural 54
High Frequency Deafness 12
Perceptive Hearing Loss 12
Sensorineural Deafness 12
Deafness Sensorineural 54
Hearing Loss, Central 70
Central Hearing Loss 12
Perceptive Deafness 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10003
ICD9CM 34 389.1
MeSH 44 D006319
NCIt 50 C26739
SNOMED-CT 67 60700002
UMLS 70 C0018776 C0018780 C0018784 more

Summaries for Sensorineural Hearing Loss

Disease Ontology : 12 An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.

MalaCards based summary : Sensorineural Hearing Loss, also known as sensory hearing loss, is related to autosomal recessive non-syndromic sensorineural deafness type dfnb and deafness, autosomal dominant 1, with or without thrombocytopenia, and has symptoms including tinnitus An important gene associated with Sensorineural Hearing Loss is GJB2 (Gap Junction Protein Beta 2). The drugs Lidocaine and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and kidney, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 73 Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner... more...

Related Diseases for Sensorineural Hearing Loss

Diseases in the Sensorineural Hearing Loss family:

Nonsyndromic Hereditary Sensorineural Hearing Loss

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

(show top 50) (show all 1532)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 33.4 TECTA KARS1 GJB2 GIPC3 COL11A2 CDH23
2 deafness, autosomal dominant 1, with or without thrombocytopenia 33.4 WFS1 TECTA GJB2
3 autosomal dominant non-syndromic sensorineural deafness type dfna 33.4 WFS1 TECTA LMX1A GJB2 GIPC3 COL11A2
4 deafness, autosomal dominant 6 33.0 WFS1 TECTA GJB2 COL11A2 CDH23
5 branchiootic syndrome 1 32.9 TECTA KARS1 GJB2 CDH23
6 deafness, autosomal recessive 9 32.9 TECTA GJB2 CDH23
7 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.8 TECTA GJB2 COL11A2 CDH23
8 perrault syndrome 32.8 KARS1 HARS2 AFG3L2
9 deafness, autosomal dominant 9 32.8 WFS1 GJB2 COL11A2
10 usher syndrome 32.8 WFS1 TECTA PEX6 HARS2 GJB2 COL11A2
11 deafness, autosomal recessive 2 32.7 TECTA GJB2 CDH23
12 deafness, autosomal dominant 41 32.7 GJB2 CDH23
13 deafness, autosomal recessive 12 32.7 TECTA GJB2 CDH23
14 deafness, autosomal dominant 11 32.7 GJB2 COL11A2 CDH23
15 deafness, autosomal dominant 7 32.6 TECTA LMX1A
16 deafness, autosomal recessive 21 32.6 TECTA GJB2 COL11A2
17 waardenburg's syndrome 32.6 WFS1 RET GJB2 CDH23
18 deafness, autosomal recessive 91 32.6 GJB2 CDH23
19 deafness, autosomal recessive 7 32.6 GJB2 CDH23
20 usher syndrome, type id 32.6 TECTA GJB2 CDH23
21 deafness, autosomal recessive 16 32.6 GJB2 CDH23
22 deafness, autosomal recessive 18a 32.6 WFS1 CDH23
23 deafness, autosomal dominant 13 32.5 TECTA COL11A2
24 usher syndrome, type iiia 32.5 HARS2 CEP78 CDH23
25 deafness, autosomal recessive 29 32.5 TECTA GJB2
26 usher syndrome, type ic 32.5 GJB2 CDH23
27 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.5 TECTA COL11A2
28 deafness, autosomal dominant 36 32.4 GJB2 CDH23
29 rare genetic deafness 32.3 WFS1 TECTA GJB2 GIPC3 COL11A2 CDH23
30 deafness, autosomal recessive 23 32.3 GJB2 CDH23
31 nonsyndromic hearing loss 32.2 WFS1 TECTA KARS1 GJB2 COL11A2 CDH23
32 deafness, autosomal dominant 10 32.1 TECTA COL11A2
33 non-syndromic genetic deafness 32.0 TECTA KARS1 GJB2 CDH23
34 inner ear disease 32.0 WFS1 SLC12A2 GJB2 CDH23 BRF1
35 auditory system disease 31.9 WFS1 TECTA GJB2 COL11A2 CDH23
36 autosomal dominant nonsyndromic deafness 31.8 WFS1 TECTA GJB2 COL11A2 CDH23
37 autosomal recessive nonsyndromic deafness 31.8 TECTA GJB2 GIPC3 CDH23
38 nonsyndromic deafness 31.6 WFS1 GJB2 COL11A2
39 autosomal recessive nonsyndromic deafness 3 31.6 GJB2 CDH23
40 deafness, autosomal recessive 77 31.6 GJB2 CDH23
41 deafness, autosomal dominant 21 31.4 TECTA COL11A2
42 deafness, autosomal dominant 44 31.4 TECTA COL11A2
43 deafness, autosomal recessive 53 31.4 TECTA COL11A2
44 deafness, autosomal recessive 26 31.4 TECTA GJB2
45 usher syndrome type 2 31.1 TECTA GJB2 CDH23 BBS10
46 deafness, autosomal recessive 31.0 TECTA GJB2 GIPC3 CDH23
47 hereditary hearing loss and deafness 30.9 COL11A2 CDH23 GJB2
48 optic nerve disease 30.6 WFS1 KARS1 AFG3L2
49 vestibular disease 30.6 GJB2 CDH23
50 sudden sensorineural hearing loss 11.9

Comorbidity relations with Sensorineural Hearing Loss via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Heart Disease Hypertension, Essential
Schizophreniform Disorder

Graphical network of the top 20 diseases related to Sensorineural Hearing Loss:



Diseases related to Sensorineural Hearing Loss

Symptoms & Phenotypes for Sensorineural Hearing Loss

UMLS symptoms related to Sensorineural Hearing Loss:


tinnitus

MGI Mouse Phenotypes related to Sensorineural Hearing Loss:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 AFG3L2 BBS10 CDH23 COL11A2 GIPC3 HARS2
2 growth/size/body region MP:0005378 10.07 AFG3L2 BBS10 BRF1 CDH23 COL11A2 GJB2
3 mortality/aging MP:0010768 9.83 AFG3L2 BBS10 BRF1 CDC14A CDH23 GJB2
4 hearing/vestibular/ear MP:0005377 9.76 CDH23 COL11A2 GIPC3 GJB2 HARS2 LMX1A
5 nervous system MP:0003631 9.36 AFG3L2 BBS10 CDH23 GIPC3 GJB2 KARS1

Drugs & Therapeutics for Sensorineural Hearing Loss

Drugs for Sensorineural Hearing Loss (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 103)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Ginkgo Phase 4
11 Anti-Inflammatory Agents Phase 4
12 glucocorticoids Phase 4
13 Hormone Antagonists Phase 4
14 Hormones Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 Gastrointestinal Agents Phase 4
17 Antiemetics Phase 4
18 BB 1101 Phase 4
19 Neuroprotective Agents Phase 4
20 Anticholesteremic Agents Phase 4
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
22 Methylprednisolone Acetate Phase 4
23 Protective Agents Phase 4
24 Lipid Regulating Agents Phase 4
25 Hypolipidemic Agents Phase 4
26
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
27
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
28
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
29
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
30
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
31
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
32
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
33
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
34
Valganciclovir Approved, Investigational Phase 3 175865-60-8 64147
35
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
36
protease inhibitors Phase 2, Phase 3
37 HIV Protease Inhibitors Phase 2, Phase 3
38 Respiratory System Agents Phase 2, Phase 3
39 Antidotes Phase 2, Phase 3
40 Antioxidants Phase 2, Phase 3
41 Expectorants Phase 2, Phase 3
42 N-monoacetylcystine Phase 2, Phase 3
43 Chelating Agents Phase 2, Phase 3
44 Incretins Phase 2, Phase 3
45 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
46 Sitagliptin Phosphate Phase 2, Phase 3
47 Iron Chelating Agents Phase 2, Phase 3
48 Hypoglycemic Agents Phase 2, Phase 3
49 Pharmaceutical Solutions Phase 3
50 Anesthetics Phase 3

Interventional clinical trials:

(show top 50) (show all 199)
# Name Status NCT ID Phase Drugs
1 Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study Completed NCT01054378 Phase 4
2 The Effect of Positive Airway Pressure on Idiopathic Sudden Sensorineural Hearing Loss Comorbided With Obstructive Sleep Apnea: A Clinical Randomized Controlled Study Recruiting NCT04192656 Phase 4 Methylprednisolone Hemisuccinate;Ginaton
3 Towards a Self-Administered Hearing Protection Regimen Not yet recruiting NCT04826237 Phase 4 Statin;methylprednisolone;dexamethasone;Placebo
4 A Phase IV, Single-center Study of the Benefits of the Advanced Bionics Naída CI Q90 Acoustic Earhook in Adults Cochlear Implant Recipients. Withdrawn NCT04041596 Phase 4
5 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
6 Clinical Trial on Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery: The Cochlea as a Capacitor Unknown status NCT03374514 Phase 3 Dexamethasone;Sterile isotonic saline solution
7 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
8 The Leiden CONCERT Study 2.0 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Non-Randomized Trial With Historical Control Group Unknown status NCT02005822 Phase 3 Valganciclovir
9 Evaluation of a Binaural Spatialization Method for Hearing Aids, in Terms of Speech Intelligibility, Speaker Localization and Subjective Preference. Completed NCT02693704 Phase 2, Phase 3
10 Efficacy and Safety of AM-111 in the Treatment of Acute Inner Ear Hearing Loss Completed NCT02561091 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
11 A Prospective, Randomized, Double Blind, Placebo Controlled, Multicenter Study on the Safety and Efficacy of Continuous Infusion of Corticosteroid Delivered Via Catheter in Patients With Idiopathic Sudden Sensorineural Hearing Loss Completed NCT00335920 Phase 3 Dexamethasone-dihydrogenphosphate (4mg/ml)
12 A Phase III Multicenter, Double-blind, Placebo-controlled, Study Evaluating the Safety, and Efficacy of STR001 Treatment in Adults With Sudden Sensorineural Hearing Loss Completed NCT03331627 Phase 3 STR001-IT and STR001-ER
13 A Two-part, Randomized, Double-blind, Placebo-controlled, Parallel-group, Efficacy and Safety Study of SENS-401 in Subjects With Severe or Profound Sudden Sensorineural Hearing Loss Recruiting NCT03603314 Phase 2, Phase 3 SENS-401;SENS-401
14 Efficacy and Safety of AM-111 as Acute Sudden Sensorineural Hearing Loss Treatment Terminated NCT02809118 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
15 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
16 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
17 Effectiveness of NECTEC Model, Body-worn, Digital Hearing Aids and Cost of Screening and Hearing Aids Service in Elders Unknown status NCT01902914 Phase 1, Phase 2
18 A Phase 1/2 Randomized, Double-blind, Placebo-controlled, Single-dose Study of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss Completed NCT03616223 Phase 1, Phase 2 FX-322;Placebo
19 Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss: A Multi-Centre, Double-Blind, Randomised, Placebo-Controlled, Dose-Escalation Phase II Study Completed NCT00802425 Phase 2 AM-111;placebo
20 Double-blind, Randomized, Placebo-controlled Study on Efficacy, Safety and Tolerability of Ancrod in Patients With Sudden Sensorineural Hearing Loss (SSHL) Completed NCT01621256 Phase 1, Phase 2 Ancrod;Saline solution
21 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
22 Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss Completed NCT02038972 Phase 1, Phase 2
23 Effectiveness of Therapy Via Telemedicine Following Cochlear Implants Completed NCT02497690 Phase 2
24 High Dose Oral Steroids in Sudden Sensorineural Hearing Loss Recruiting NCT03255473 Phase 2 Dexamethasone;Prednisone
25 Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants: ValEAR Trial Recruiting NCT03107871 Phase 2 Valganciclovir;Simple Syrup
26 A Phase I/IIa, Randomized, Double-Blind, Placebo-Controlled, Safety, Pharmacokinetic, and Preliminary Efficacy Study of Unilateral Intratympanic PIPE-505 in Subjects With Sensorineural Hearing Loss Associated With Speech-in-Noise Impairment Active, not recruiting NCT04462198 Phase 1, Phase 2 PIPE-505;Diluent alone
27 A Phase 2a, Prospective, Randomized, Double-Blind, Placebo-Controlled, Single and Repeat-Dose, Multicenter, Exploratory Efficacy Study of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss Active, not recruiting NCT04120116 Phase 2 FX-322;Placebo
28 A Randomized, Double-blind, Placebo-controlled Phase 1/2 Study of OTO-413 Given as a Single Intratympanic Injection in Subjects With Speech-in-noise Hearing Impairment Active, not recruiting NCT04129775 Phase 1, Phase 2 OTO-413;Placebo
29 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
30 Safety of Infusion of Autologous Human Bone Marrow Mononuclear Fraction in Children With Sensorineural Hearing Loss Suspended NCT02616172 Phase 1, Phase 2
31 A Double-Blind, Randomized, Placebo-Controlled, Single-Dose, Crossover Study Of The Safety And Efficacy Of Two Fixed Doses Of PF-04958242 In Subjects With Age-Related Sensorineural Hearing Loss Completed NCT01518920 Phase 1 PF-04958242;PF-04958242;Placebo
32 Randomized, Placebo-controlled, Double-blind, Dose Escalation Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC in Single Doses in Male and Female Subjects Completed NCT02259595 Phase 1 HPN-07;NAC;Placebo
33 Auditory Brain Training to Enhance Satisfaction and Usage of New Hearing Aids by Older Adults Completed NCT04230876 Phase 1
34 Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding Completed NCT00582946 Phase 1
35 A Phase 1b, Prospective, Randomized, Double-Blind, Placebo- Controlled, Single-Dose, Multicenter, Safety Study of FX-322 Administered by Intratympanic Injection in Adults With Severe Sensorineural Hearing Loss Recruiting NCT04629664 Phase 1 FX-322
36 A Phase 1b, Prospective, Randomized, Double-Blind, Placebo-Controlled, Single-Dose, Multicenter, Safety Study of FX-322 Administered by Intratympanic Injection in Adults With Age-Related Sensorineural Hearing Loss Active, not recruiting NCT04601909 Phase 1 FX-322
37 Triamcinolone Levels in Cochlear Perilymph Enrolling by invitation NCT03248856 Phase 1 Triamcinolone Acetonide
38 Clinical Applications of Round Window High Resolution Computerised Tomography Anatomy in Cochlear Implant Surgery Unknown status NCT02093806
39 Middle Ear Implant With MET V for Mixed Hearing Loss Unknown status NCT01529333
40 Vestibular Function Evaluated by the Video Head Impulse Test (vHIT) and Vertigo Perceived by the Patients Before and After Cochlear Implant Surgery. Unknown status NCT02584361
41 Comparison of Patient Satisfaction and Audiological Performance Between Neuro 1 and Neuro 2 Speech Processors Unknown status NCT03288753
42 Objective Measures in Cochlear Implant in Children and Its Correlation to Outcome Unknown status NCT03260374
43 Comparison of Audiometric Performance Between the Neuro 1 and Neuro 2 Sound Processors. Unknown status NCT03756337
44 Effects of Propofol and Sevoflurane on Blood Folic Acid and Homocysteine Concentrations in Children With Cochlear Implant Surgery Unknown status NCT03595163 Sevoflurane;Propofol
45 The Registry of Hyperbaric Oxygen Therapy Treated Patients Unknown status NCT02483650
46 An Evaluation of the High Frequency Digit Triplet Test as a Screening Tool for Early Detection of Hearing Loss in Individuals With Cystic Fibrosis Unknown status NCT02252601
47 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
48 Evaluation of Intra and Post-operative Electrocochleography for the Monitoring of Residual Hearing Unknown status NCT03848338
49 CNS Infections Effect on the Inner Ear Unknown status NCT03715569
50 Designing a Randomised Controlled Trial to Examine the Benefit of Bilateral Cochlear Implantation Compared With Unilateral Cochlear Implantation in Adults With Severe to Profound Deafness Unknown status NCT03287700

Search NIH Clinical Center for Sensorineural Hearing Loss

Cochrane evidence based reviews: hearing loss, sensorineural

Genetic Tests for Sensorineural Hearing Loss

Genetic tests related to Sensorineural Hearing Loss:

# Genetic test Affiliating Genes
1 Sensorineural Hearing Loss 29

Anatomical Context for Sensorineural Hearing Loss

MalaCards organs/tissues related to Sensorineural Hearing Loss:

40
Bone, Brain, Kidney, Cortex, Thyroid, Neutrophil, Bone Marrow

Publications for Sensorineural Hearing Loss

Articles related to Sensorineural Hearing Loss:

(show top 50) (show all 13031)
# Title Authors PMID Year
1
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. 6 61
32827185 2020
2
Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. 6
33260297 2020
3
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
4
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 6
26763877 2016
5
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. 6
25963016 2015
6
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. 6
22899989 2012
7
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 61 54
20174760 2010
8
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. 61 54
20233142 2010
9
[Auto-immune sensorineural deafness: physiopathology and therapeutic approach]. 54 61
19233519 2010
10
GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. 54 61
19887791 2010
11
Cochlear outer hair cells in a dominant-negative connexin26 mutant mouse preserve non-linear capacitance in spite of impaired distortion product otoacoustic emission. 61 54
19712724 2009
12
The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. 54 61
19723508 2009
13
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 61 54
19645626 2009
14
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 61 54
19786220 2009
15
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 54 61
19364879 2009
16
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. 54 61
19509082 2009
17
[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. 61 54
19954013 2009
18
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. 54 61
19187973 2009
19
Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone. 54 61
19413608 2009
20
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. 61 54
18570691 2009
21
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. 61 54
19235794 2009
22
Genetic evaluation of American minority pediatric cochlear implant recipients. 54 61
19081147 2009
23
10p12.1 deletion: HDR phenotype without DGS2 features. 61 54
19022243 2009
24
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 54 61
18688874 2009
25
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 54 61
19283857 2009
26
[Genetic analysis of family constellation for cochlear implant recipients]. 54 61
19073547 2008
27
Sudden hearing loss in a family with GJB2 related progressive deafness. 61 54
18809215 2008
28
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 54 61
18787097 2008
29
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 61 54
18688868 2008
30
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. 54 61
18804074 2008
31
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 54 61
18285825 2008
32
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. 61 54
18983339 2008
33
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. 61 54
18641518 2008
34
Cochlear implants stimulate activity-dependent CREB pathway in the deaf auditory cortex: implications for molecular plasticity induced by neural prosthetic devices. 54 61
18063565 2008
35
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 54 61
18407919 2008
36
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 54 61
18472371 2008
37
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. 61 54
18518985 2008
38
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. 54 61
18412859 2008
39
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 61 54
18089569 2008
40
Prevalence and clinical significance of anticardiolipin, anti-beta2-glycoprotein-1, and anti-heat shock protein-70 autoantibodies in sudden sensorineural hearing loss. 54 61
18259075 2008
41
Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities. 61 54
18075246 2008
42
[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population]. 54 61
18269866 2007
43
[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China]. 61 54
18067822 2007
44
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing? 61 54
17455295 2007
45
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 54 61
17666888 2007
46
Comparison of immune assays for the detection of anti-HSP70 antibodies in patients with idiopathic sensorineural hearing loss. 54 61
17434470 2007
47
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. 54 61
17255958 2007
48
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. 54 61
17517145 2007
49
Etiology of severe sensorineural hearing loss in children: independent impact of congenital cytomegalovirus infection and GJB2 mutations. 54 61
17299707 2007
50
Audiologic findings in children with biotinidase deficiency in Turkey. 54 61
17161472 2007

Variations for Sensorineural Hearing Loss

ClinVar genetic disease variations for Sensorineural Hearing Loss:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMX1A NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) SNV Pathogenic 517667 rs763320093 GRCh37: 1:165173160-165173160
GRCh38: 1:165203923-165203923
2 RET NM_020975.6(RET):c.1276_1277TG[2] (p.Val427fs) Microsatellite Pathogenic 590798 rs1564494285 GRCh37: 10:43606667-43606668
GRCh38: 10:43111219-43111220
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser) SNV Pathogenic 972899 GRCh37: 5:127512829-127512829
GRCh38: 5:128177137-128177137
4 CDC14A NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) SNV Pathogenic 235145 rs876661408 GRCh37: 1:100949996-100949996
GRCh38: 1:100484440-100484440
5 CDC14A NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) SNV Pathogenic 559439 rs549556142 GRCh37: 1:100949903-100949903
GRCh38: 1:100484347-100484347
6 CDC14A NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs) Deletion Pathogenic 691620 rs1571346132 GRCh37: 1:100963693-100963694
GRCh38: 1:100498137-100498138
7 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs) Deletion Pathogenic 372270 rs1057517695 GRCh37: 9:80856645-80856645
GRCh38: 9:78241729-78241729
8 CEP78 NM_001330691.3(CEP78):c.893-1G>A SNV Pathogenic 372269 rs1057517694 GRCh37: 9:80863206-80863206
GRCh38: 9:78248290-78248290
9 PEX6 NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) SNV Pathogenic 869197 GRCh37: 6:42946518-42946518
GRCh38: 6:42978780-42978780
10 AFG3L2 NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) SNV Pathogenic 973105 GRCh37: 18:12353102-12353102
GRCh38: 18:12353103-12353103
11 BRF1 NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) SNV Pathogenic 867234 rs1343140353 GRCh37: 14:105707642-105707642
GRCh38: 14:105241305-105241305
12 KARS1 NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) SNV Pathogenic 694746 rs1415687857 GRCh37: 16:75663371-75663371
GRCh38: 16:75629473-75629473
13 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
14 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) Deletion Pathogenic 523510 rs1553212868 GRCh37: 1:151378740-151378740
GRCh38: 1:151406264-151406264
15 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic 17020 rs28931594 GRCh37: 13:20763573-20763573
GRCh38: 13:20189434-20189434
16 PEX6 NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) SNV Pathogenic 553552 rs267608239 GRCh37: 6:42933788-42933788
GRCh38: 6:42966050-42966050
17 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
18 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
19 KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs) Deletion Pathogenic 560389 rs1567498374 GRCh37: 16:75664391-75664391
GRCh38: 16:75630493-75630493
20 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) SNV Pathogenic 225010 rs768933093 GRCh37: 12:76741994-76741994
GRCh38: 12:76348214-76348214
21 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
22 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3107G>A (p.Cys1036Tyr) SNV Likely pathogenic 517663 rs772606235 GRCh37: 11:121008295-121008295
GRCh38: 11:121137586-121137586
23 RRM2B NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) SNV Likely pathogenic 977276 GRCh37: 8:103226285-103226285
GRCh38: 8:102214057-102214057
24 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) SNV Likely pathogenic 444219 rs756147087 GRCh37: 10:73464800-73464800
GRCh38: 10:71705043-71705043
25 GJB2 NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) SNV Likely pathogenic 586962 rs104894403 GRCh37: 13:20763525-20763525
GRCh38: 13:20189386-20189386
26 RAB33A , AIFM1 NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) SNV Likely pathogenic 374094 rs1057518895 GRCh37: X:129271109-129271109
GRCh38: X:130137134-130137134
27 LOC119407423 , HARS2 NM_012208.4(HARS2):c.72C>A (p.Cys24Ter) SNV Likely pathogenic 635273 rs1581536078 GRCh37: 5:140071305-140071305
GRCh38: 5:140691720-140691720
28 HARS2 NM_012208.4(HARS2):c.1439G>A (p.Arg480His) SNV Likely pathogenic 635270 rs200089613 GRCh37: 5:140077641-140077641
GRCh38: 5:140698056-140698056
29 HARS2 NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly277_Val278insTyrProTer) Indel Likely pathogenic 635271 rs1581550832 GRCh37: 5:140076529-140076529
GRCh38: 5:140696944-140696944
30 HARS2 NM_012208.4(HARS2):c.413G>A (p.Arg138His) SNV Likely pathogenic 635272 rs1432653451 GRCh37: 5:140075106-140075106
GRCh38: 5:140695521-140695521
31 COL11A2 NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) SNV Likely pathogenic 374129 rs745434198 GRCh37: 6:33133760-33133760
GRCh38: 6:33165983-33165983
32 GIPC3 NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) SNV Likely pathogenic 620637 rs1348505504 GRCh37: 19:3586667-3586667
GRCh38: 19:3586669-3586669
33 PDZD7 NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter) SNV Uncertain significance 694649 rs1002525817 GRCh37: 10:102778815-102778815
GRCh38: 10:101019058-101019058
34 GGPS1 NM_004837.4(GGPS1):c.269A>G (p.Asn90Ser) SNV Uncertain significance 869201 GRCh37: 1:235505453-235505453
GRCh38: 1:235342138-235342138
35 MT-CYB NC_012920.1:m.15127C>T SNV Uncertain significance 370064 rs1057516074 GRCh37: MT:15127-15127
GRCh38: MT:15127-15127
36 GSDME NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) SNV Uncertain significance 523410 rs148449230 GRCh37: 7:24758786-24758786
GRCh38: 7:24719167-24719167
37 ESPN NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser) SNV Uncertain significance 523541 rs921702586 GRCh37: 1:6511981-6511981
GRCh38: 1:6451921-6451921
38 ESPN NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr) SNV Uncertain significance 694651 rs776386029 GRCh37: 1:6501045-6501045
GRCh38: 1:6440985-6440985
39 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) SNV Uncertain significance 188488 rs150529554 GRCh37: 13:20763366-20763366
GRCh38: 13:20189227-20189227
40 PTPRQ NM_001145026.2(PTPRQ):c.6327+1G>A SNV Uncertain significance 694646 rs1592779077 GRCh37: 12:81062921-81062921
GRCh38: 12:80669142-80669142
41 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
42 COL11A1 NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser) SNV Uncertain significance 997012 rs375443900 GRCh37: 1:103463868-103463868
GRCh38: 1:102998312-102998312
43 GIPC3 NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) SNV Uncertain significance 163502 rs727503062 GRCh37: 19:3585717-3585717
GRCh38: 19:3585719-3585719
44 LARS1 NM_020117.11(LARS1):c.1880C>T (p.Pro627Leu) SNV Uncertain significance 871841 GRCh37: 5:145522645-145522645
GRCh38: 5:146143082-146143082
45 GABRA1 NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) SNV Uncertain significance 625850 rs1561571575 GRCh37: 5:161292771-161292771
GRCh38: 5:161865765-161865765
46 overlap with 11 genes GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 copy number gain Uncertain significance 635776 GRCh37: 5:179065654-179541490
GRCh38:
47 GGPS1 NM_004837.4(GGPS1):c.782G>A (p.Arg261His) SNV Uncertain significance 869200 GRCh37: 1:235505966-235505966
GRCh38: 1:235342651-235342651
48 TFAM NM_003201.3(TFAM):c.694C>T (p.Arg232Cys) SNV Uncertain significance 869199 GRCh37: 10:60154787-60154787
GRCh38: 10:58395027-58395027
49 TOP1MT NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro) SNV Uncertain significance 869198 GRCh37: 8:144403402-144403402
GRCh38: 8:143321232-143321232
50 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247

Copy number variations for Sensorineural Hearing Loss from CNVD:

7 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 115500 17 58121080 60118579 Deletion Sensorineural hearing loss
2 115503 17 58121080 60118579 Deletion APPBP2 sensorineural hearing loss
3 115507 17 58121080 60118579 Deletion BCAS3 sensorineural hearing loss
4 115511 17 58121080 60118579 Deletion BRIP1 sensorineural hearing loss
5 115515 17 58121080 60118579 Deletion CA4 sensorineural hearing loss
6 115519 17 58121080 60118579 Deletion INTS2 sensorineural hearing loss
7 115523 17 58121080 60118579 Deletion MED13 sensorineural hearing loss
8 115527 17 58121080 60118579 Deletion NACA2 sensorineural hearing loss
9 115531 17 58121080 60118579 Deletion PPM1D sensorineural hearing loss
10 115535 17 58121080 60118579 Deletion TBX2 sensorineural hearing loss
11 115539 17 58121080 60118579 Deletion TBX4 sensorineural hearing loss
12 115543 17 58121080 60118579 Deletion USP32 sensorineural hearing loss
13 115552 17 58172730 60315273 Deletion Sensorineural hearing loss

Expression for Sensorineural Hearing Loss

Search GEO for disease gene expression data for Sensorineural Hearing Loss.

Pathways for Sensorineural Hearing Loss

GO Terms for Sensorineural Hearing Loss

Biological processes related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.32 WFS1 TMCO1
2 membrane protein proteolysis GO:0033619 9.26 RET AFG3L2
3 ER overload response GO:0006983 9.16 WFS1 TMCO1
4 sensory perception of sound GO:0007605 9.1 WFS1 TECTA GJB2 COL11A2 CDH23 CDC14A
5 olfactory behavior GO:0042048 8.96 WFS1 LMX1A

Sources for Sensorineural Hearing Loss

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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