MCID: SNS001
MIFTS: 59

Sensorineural Hearing Loss

Categories: Ear diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Sensorineural Hearing Loss

MalaCards integrated aliases for Sensorineural Hearing Loss:

Name: Sensorineural Hearing Loss 11 75 14 16 71
Sensory Hearing Loss 11 53 71
Sensorineural Hearing Loss Disorder 28 5
Hearing Loss, Sensorineural 43 38
Perceptive Hearing Loss or Deafness 11
Hearing Loss, High-Frequency 71
High Frequency Hearing Loss 11
High-Frequency Hearing Loss 11
Hearing Loss High-Frequency 53
Hearing Loss Sensorineural 53
High Frequency Deafness 11
Perceptive Hearing Loss 11
Sensorineural Deafness 11
Deafness Sensorineural 53
Hearing Loss, Central 71
Central Hearing Loss 11
Perceptive Deafness 11

Classifications:



External Ids:

Disease Ontology 11 DOID:10003
ICD9CM 34 389.1
MeSH 43 D006319
NCIt 49 C26739
SNOMED-CT 68 60700002
UMLS 71 C0018776 C0018780 C0018784 more

Summaries for Sensorineural Hearing Loss

Disease Ontology: 11 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 deafness, autosomal dominant 1, with or without thrombocytopenia and deafness and myopia, and has symptoms including tinnitus An important gene associated with Sensorineural Hearing Loss is GJB2 (Gap Junction Protein Beta 2). The drugs Lidocaine and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are shRNA abundance <= 50% and nervous system

Wikipedia: 75 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 1829)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1, with or without thrombocytopenia 33.5 WFS1 MYO7A GJB2
2 deafness and myopia 33.2 MYO7A GJB2
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 33.2 TMIE MYO7A MYO3A KARS1 GJB2 CLDN14-AS1
4 autosomal dominant non-syndromic sensorineural deafness type dfna 33.1 WFS1 MYO7A GJB2
5 deafness, autosomal dominant 22 33.1 MYO7A MYO3A
6 usher syndrome 33.1 WFS1 TMIE PEX6 MYO7A MYO3A GJB2
7 usher syndrome, type i 32.9 TMIE MYO7A MYO3A GJB2 CEP78
8 deafness, autosomal recessive 9 32.9 TMIE MYO7A GJB2
9 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.9 TMIE MYO7A MYO3A GJB2
10 deafness, autosomal recessive 49 32.9 TMIE GJB2 CLDN14
11 perrault syndrome 32.9 KARS1 GJB2 CLDN14-AS1 CLDN14 AFG3L2
12 deafness, autosomal dominant 6 32.9 WFS1 GJB2
13 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 32.8 WFS1 AFG3L2
14 deafness, autosomal dominant 9 32.8 WFS1 MYO7A GJB2
15 bartter disease 32.7 SLC12A2 CLDN14 CLCNKA
16 deafness, autosomal recessive 100 32.7 SLC12A2 MYO7A
17 deafness, autosomal dominant 36 32.7 TMIE MYO7A GJB2
18 deafness, autosomal recessive 12 32.7 TMIE MYO7A GJB2
19 deafness, autosomal dominant 7 32.7 TMIE LMX1A
20 deafness, autosomal recessive 63 32.7 TMIE MYO7A GJB2
21 deafness, autosomal recessive 2 32.6 MYO7A MYO3A GJB2
22 deafness, autosomal dominant 11 32.6 MYO7A MYO3A GJB2
23 deafness, autosomal recessive 29 32.6 GJB2 CLDN14-AS1 CLDN14
24 usher syndrome, type iiia 32.6 MYO7A GJB2 CEP78
25 deafness, autosomal recessive 18a 32.6 WFS1 MYO7A
26 deafness, autosomal recessive 3 32.5 MYO7A GJB2
27 deafness, autosomal dominant 48 32.5 MYO7A MYO3A
28 deafness, autosomal recessive 39 32.5 MYO7A GJB2
29 usher syndrome type 2 32.5 MYO7A MYO3A GJB2
30 deafness, autosomal recessive 8 32.5 TMIE GJB2
31 deafness, autosomal dominant 4a 32.5 WFS1 GJB2
32 deafness, autosomal recessive 79 32.4 MYO3A GJB2
33 deafness, autosomal recessive 16 32.4 TMIE GJB2
34 deafness, autosomal recessive 37 32.4 MYO7A MYO3A
35 deafness, autosomal dominant 25 32.4 MYO7A GJB2
36 deafness, autosomal recessive 23 32.3 MYO7A GJB2
37 waardenburg syndrome, type 4b 32.3 COL9A1 CLCNKA
38 optic atrophy 7 with or without auditory neuropathy 32.3 WFS1 AFG3L2
39 inner ear disease 32.2 WFS1 SLC12A2 MYO7A GJB2 BRF1
40 rare genetic deafness 32.2 WFS1 MYO7A GJB2 CDC14A
41 nonsyndromic hearing loss 32.1 WFS1 MYO7A MYO3A KARS1 GJB2
42 non-syndromic genetic deafness 32.0 MYO7A MYO3A KARS1 GJB2
43 labyrinthitis 32.0 MYO7A GJB2
44 dfnb1 31.9 MYO7A GJB2
45 ear malformation 31.8 MYO7A GJB2 CDC14A
46 autosomal dominant nonsyndromic deafness 31.8 WFS1 TMIE MYO7A MYO3A GJB2
47 autosomal recessive nonsyndromic deafness 31.7 TMIE MYO7A MYO3A GJB2 CLDN14-AS1 CLDN14
48 retinitis pigmentosa 31.7 WFS1 RET PEX6 MYO7A MYO3A MT-TL1
49 autosomal recessive nonsyndromic deafness 3 31.7 MYO7A MYO3A GJB2
50 deafness, autosomal dominant 17 31.7 MYO7A MYO3A GJB2

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

GenomeRNAi Phenotypes related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.02 CDC14A MYO3A MYO7A POGZ RET

MGI Mouse Phenotypes related to Sensorineural Hearing Loss:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 AFG3L2 CDC14A CLDN14 GJB2 LMX1A MYO3A
2 hearing/vestibular/ear MP:0005377 9.85 CDC14A CLCNKA CLDN14 COL9A1 GJB2 LMX1A
3 behavior/neurological MP:0005386 9.73 AFG3L2 CLCNKA CLDN14 KARS1 LMX1A MYO3A
4 mortality/aging MP:0010768 9.44 AFG3L2 BRF1 CDC14A CLCNKA 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 114)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
10
Ginkgo Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 glucocorticoids Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Neuroprotective Agents Phase 4
17 Antiemetics Phase 4
18
Methylprednisolone Acetate Phase 4 584547
19 Gastrointestinal Agents Phase 4
20 Protective Agents Phase 4
21 BB 1101 Phase 4
22 Hypolipidemic Agents Phase 4
23 Anticholesteremic Agents Phase 4
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
25 Lipid Regulating Agents Phase 4
26
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 581 12035
27
Iron Approved Phase 2, Phase 3 7439-89-6 29936
28
Metformin Approved Phase 2, Phase 3 1115-70-4, 657-24-9 4091
29
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
30
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
31
Valganciclovir Approved, Investigational Phase 3 175865-60-8 64147
32
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
33
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
34
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
35
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
36 Hypoglycemic Agents Phase 2, Phase 3
37 Expectorants Phase 2, Phase 3
38 Antidotes Phase 2, Phase 3
39 N-monoacetylcystine Phase 2, Phase 3
40 Respiratory System Agents Phase 2, Phase 3
41 Antioxidants Phase 2, Phase 3
42 Iron Chelating Agents Phase 2, Phase 3
43
Sitagliptin Phosphate Phase 2, Phase 3 654671-77-9
44 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
45 Incretins Phase 2, Phase 3
46 Chelating Agents Phase 2, Phase 3
47 Anesthetics Phase 3
48 Pharmaceutical Solutions Phase 3
49 Antiviral Agents Phase 3
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 257)
# 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 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
9 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 Completed NCT03603314 Phase 2, Phase 3 SENS-401
10 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)
11 The Leiden CONCERT Study 2.0 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Non-Randomized Trial With Historical Control Group Completed NCT02005822 Phase 3 Valganciclovir
12 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
13 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
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 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
16 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
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 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 Completed NCT04120116 Phase 2 FX-322 (One Dose);FX-322 (Two Doses);FX-322 (Four Doses);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 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 Completed NCT04462198 Phase 1, Phase 2 PIPE-505;Placebo
21 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
22 A Phase 1/2 Randomized, Double-blind, Placebo-controlled Single Dose Study at Two Dose Levels of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss Completed NCT03616223 Phase 1, Phase 2 FX-322;Placebo
23 Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss Completed NCT02038972 Phase 1, Phase 2
24 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 Completed NCT04129775 Phase 1, Phase 2 OTO-413;Placebo
25 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
26 Effectiveness of Therapy Via Telemedicine Following Cochlear Implants Completed NCT02497690 Phase 2
27 Predictive Factors for Recovery in Idiopathic Sensory Neural Hearing Loss Completed NCT05112354 Phase 2 systemic and intratympanic injection of steoid
28 High Dose Oral Steroids in Sudden Sensorineural Hearing Loss Recruiting NCT03255473 Phase 2 Dexamethasone;Prednisone
29 The Role of Migraine Prophylaxis Agent Topiramate in Treating Patients With Sudden Sensorineural Hearing Loss Recruiting NCT05403229 Phase 2 Topiramate;Systemic Steroids
30 A Phase 2, Prospective, Randomized, Double-Blind, Placebo-Controlled, Single-Dose, Multicenter Study to Evaluate the Efficacy of FX-322 Administered by Intratympanic Injection in Adults With Acquired Sensorineural Hearing Loss Active, not recruiting NCT05086276 Phase 2 FX-322;Placebo
31 Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants: ValEAR Trial Active, not recruiting NCT03107871 Phase 2 Valganciclovir;Simple Syrup
32 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
33 Safety of Infusion of Autologous Human Bone Marrow Mononuclear Fraction in Children With Sensorineural Hearing Loss Suspended NCT02616172 Phase 1, Phase 2
34 A Phase 2 Double Blind, Randomized, Placebo Controlled Trial inVEstigating the Effect and Safety of Several Dosing Regimens of LY3056480 in Patients With STAble Sensorineural Hearing Loss Withdrawn NCT05061758 Phase 2 LY3056480
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 Age-Related Sensorineural Hearing Loss Completed NCT04601909 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 Severe Sensorineural Hearing Loss Completed NCT04629664 Phase 1 FX-322
37 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;Placebo
38 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
39 Auditory Brain Training to Enhance Satisfaction and Usage of New Hearing Aids by Older Adults Completed NCT04230876 Phase 1
40 Triamcinolone Levels in Cochlear Perilymph Completed NCT03248856 Phase 1 Triamcinolone Acetonide
41 Phase I Clinical Study on the Safety, Tolerance, Efficacy and Pharmacokinetics of Repeated Intratympanic HY01 in Patients With Sudden Sensorineural Hearing Loss Recruiting NCT04961099 Phase 1 HY01
42 Prognostic Factors for Outcomes of Idiopathic Sudden Onset Sensorineural Hearing Loss Unknown status NCT04108598
43 The Evaluation of the Ischemia-modified Albumin Levels in the Patients With Sudden Sensorineural Hearing Loss Unknown status NCT03706183
44 Video HIT Results in Sudden Sensorineural Hearing Loss Patients Unknown status NCT04224909
45 Characteristics of Tinnitus in Patients With and Without Sensorineural Hearing Loss: A Matched Pair Analysis Unknown status NCT04162405
46 Vestibular Prognosis Assessment of the Idiopathic Sudden Sensorineural Hearing Loss With Vestibular Dysfunction Treated With Oral or Intratympanic Glucocorticoids Unknown status NCT03974867 Prednisone 5Mg Tab;Methylprednisolone 40 mg
47 Correlation of Auditory Evoked Brainstem Response Characteristics and Salivary Cortisone Concentration in Noise-exposed Workers Unknown status NCT04183361
48 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
49 Clinical Applications of Round Window High Resolution Computerised Tomography Anatomy in Cochlear Implant Surgery Unknown status NCT02093806
50 The Efficacy of a Minimally Invasive Direct Cochlear Access Via the HEARO Procedure Unknown status NCT04102215

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 Disorder 28

Anatomical Context for Sensorineural Hearing Loss

Organs/tissues related to Sensorineural Hearing Loss:

MalaCards : Bone, Bone Marrow, Brain, Neutrophil, Cortex, Thyroid, Kidney

Publications for Sensorineural Hearing Loss

Articles related to Sensorineural Hearing Loss:

(show top 50) (show all 17368)
# Title Authors PMID Year
1
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. 62 5
32827185 2020
2
Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. 5
33260297 2020
3
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 5
32219868 2020
4
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. 5
30311386 2018
5
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 5
26763877 2016
6
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. 5
25963016 2015
7
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. 5
22899989 2012
8
Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. 53 62
19879271 2010
9
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 53 62
20174760 2010
10
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. 53 62
20233142 2010
11
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 53 62
20230788 2010
12
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. 53 62
20201936 2010
13
[Auto-immune sensorineural deafness: physiopathology and therapeutic approach]. 53 62
19233519 2010
14
GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. 53 62
19887791 2010
15
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA. 53 62
19967157 2009
16
Cochlear outer hair cells in a dominant-negative connexin26 mutant mouse preserve non-linear capacitance in spite of impaired distortion product otoacoustic emission. 53 62
19712724 2009
17
The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. 53 62
19723508 2009
18
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 53 62
19786220 2009
19
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 53 62
19645626 2009
20
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 53 62
19364879 2009
21
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. 53 62
19509082 2009
22
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. 53 62
19565036 2009
23
[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. 53 62
19954013 2009
24
The role of the cytoskeleton in the formation of gap junctions by Connexin 30. 53 62
19285977 2009
25
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. 53 62
19187973 2009
26
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 53 62
18843510 2009
27
Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone. 53 62
19413608 2009
28
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. 53 62
18570691 2009
29
Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid. 53 62
19196800 2009
30
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. 53 62
19235794 2009
31
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 53 62
18688874 2009
32
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 53 62
19283857 2009
33
10p12.1 deletion: HDR phenotype without DGS2 features. 53 62
19022243 2009
34
Genetic evaluation of American minority pediatric cochlear implant recipients. 53 62
19081147 2009
35
A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. 53 62
19207931 2009
36
[Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene]. 53 62
19491791 2009
37
[Genetic analysis of family constellation for cochlear implant recipients]. 53 62
19073547 2008
38
Sudden hearing loss in a family with GJB2 related progressive deafness. 53 62
18809215 2008
39
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 53 62
18787097 2008
40
Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice. 53 62
18793701 2008
41
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 53 62
18688868 2008
42
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. 53 62
18804074 2008
43
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. 53 62
18285825 2008
44
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 53 62
18470943 2008
45
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. 53 62
18641518 2008
46
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. 53 62
18983339 2008
47
Cochlear implants stimulate activity-dependent CREB pathway in the deaf auditory cortex: implications for molecular plasticity induced by neural prosthetic devices. 53 62
18063565 2008
48
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 53 62
18407919 2008
49
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 53 62
18472371 2008
50
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. 53 62
18518985 2008

Variations for Sensorineural Hearing Loss

ClinVar genetic disease variations for Sensorineural Hearing Loss:

5 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KARS1 NM_005548.3(KARS1):c.1354del (p.Leu452fs) DEL Pathogenic
560389 rs1567498374 GRCh37: 16:75664391-75664391
GRCh38: 16:75630493-75630493
2 LMX1A NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) SNV Pathogenic
517667 rs763320093 GRCh37: 1:165173160-165173160
GRCh38: 1:165203923-165203923
3 CDC14A NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs) DEL Pathogenic
691620 rs1571346132 GRCh37: 1:100963693-100963694
GRCh38: 1:100498137-100498138
4 PEX6 NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) SNV Pathogenic
869197 rs1770427781 GRCh37: 6:42946518-42946518
GRCh38: 6:42978780-42978780
5 KARS1 NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) SNV Pathogenic
694746 rs1415687857 GRCh37: 16:75663371-75663371
GRCh38: 16:75629473-75629473
6 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs) DEL Pathogenic
372270 rs1057517695 GRCh37: 9:80856645-80856645
GRCh38: 9:78241729-78241729
7 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic
17020 rs28931594 GRCh37: 13:20763573-20763573
GRCh38: 13:20189434-20189434
8 BRF1 NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) SNV Pathogenic
867234 rs1343140353 GRCh37: 14:105707642-105707642
GRCh38: 14:105241305-105241305
9 ZSCAN10 NM_032805.3(ZSCAN10):c.2050del (p.His684fs) DEL Pathogenic
1677001 GRCh37: 16:3139385-3139385
GRCh38: 16:3089384-3089384
10 ZSCAN10 NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter) SNV Pathogenic
1677241 GRCh37: 16:3140185-3140185
GRCh38: 16:3090184-3090184
11 SLC12A2 NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser) SNV Pathogenic
972899 rs1581138965 GRCh37: 5:127512829-127512829
GRCh38: 5:128177137-128177137
12 AFG3L2 NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) SNV Pathogenic
973105 rs1908371616 GRCh37: 18:12353102-12353102
GRCh38: 18:12353103-12353103
13 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic
598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
14 PEX6 NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) SNV Pathogenic
553552 rs267608239 GRCh37: 6:42933788-42933788
GRCh38: 6:42966050-42966050
15 MYO3A NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) DEL Pathogenic
655296 rs760866131 GRCh37: 10:26377141-26377142
GRCh38: 10:26088212-26088213
16 RET NM_020975.6(RET):c.1280_1281del (p.Val427fs) MICROSAT Pathogenic
590798 rs1564494285 GRCh37: 10:43606667-43606668
GRCh38: 10:43111219-43111220
17 CEP78 NM_001330691.3(CEP78):c.893-1G>A SNV Pathogenic
372269 rs1057517694 GRCh37: 9:80863206-80863206
GRCh38: 9:78248290-78248290
18 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
19 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) DEL Pathogenic
523510 rs1553212868 GRCh37: 1:151378740-151378740
GRCh38: 1:151406264-151406264
20 FOXP4 NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) SNV Pathogenic
1472670 GRCh37: 6:41562611-41562611
GRCh38: 6:41594873-41594873
21 MYO7A NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter) SNV Pathogenic
984399 GRCh37: 11:76915236-76915236
GRCh38: 11:77204191-77204191
22 TMIE NM_147196.3(TMIE):c.122_125dup (p.Pro43fs) DUP Pathogenic
984396 GRCh37: 3:46747306-46747307
GRCh38: 3:46705816-46705817
23 CLCNKA NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) SNV Pathogenic
587598 rs202069201 GRCh37: 1:16349169-16349169
GRCh38: 1:16022674-16022674
24 CLDN14-AS1, CLDN14 NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs) INSERT Pathogenic
984395 GRCh37: 21:37833953-37833954
GRCh38: 21:36461655-36461656
25 COL9A1 NM_001851.6(COL9A1):c.2644del (p.Val882fs) DEL Pathogenic
984393 GRCh37: 6:70926722-70926722
GRCh38: 6:70217019-70217019
26 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic
9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
27 TBCEL-TECTA, TECTA NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr) SNV Likely Pathogenic
517663 rs772606235 GRCh37: 11:121008295-121008295
GRCh38: 11:121137586-121137586
28 COL11A2 NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) SNV Likely Pathogenic
374129 rs745434198 GRCh37: 6:33133760-33133760
GRCh38: 6:33165983-33165983
29 EDN3 NM_207034.3(EDN3):c.293C>T (p.Thr98Met) SNV Likely Pathogenic
984392 GRCh37: 20:57876705-57876705
GRCh38: 20:59301650-59301650
30 NARS2 NM_024678.6(NARS2):c.1339A>G (p.Met447Val) SNV Likely Pathogenic
984391 GRCh37: 11:78147811-78147811
GRCh38: 11:78436765-78436765
31 ATP6V0A4 NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) MICROSAT Likely Pathogenic
984398 GRCh37: 7:138441213-138441215
GRCh38: 7:138756468-138756470
32 SLC52A2 NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly) SNV Likely Pathogenic
984397 GRCh37: 8:145584125-145584125
GRCh38: 8:144360465-144360465
33 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely Pathogenic
598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
34 HARS2 NM_012208.4(HARS2):c.1439G>A (p.Arg480His) SNV Likely Pathogenic
635270 rs200089613 GRCh37: 5:140077641-140077641
GRCh38: 5:140698056-140698056
35 NEFL NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) SNV Likely Pathogenic
41236 rs58982919 GRCh37: 8:24813737-24813737
GRCh38: 8:24956223-24956223
36 TBCEL-TECTA, TECTA NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) SNV Likely Pathogenic
236058 rs140236996 GRCh37: 11:121038773-121038773
GRCh38: 11:121168064-121168064
37 TMIE NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) SNV Likely Pathogenic
3391 rs28942097 GRCh37: 3:46750654-46750654
GRCh38: 3:46709164-46709164
38 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) SNV Likely Pathogenic
444219 rs756147087 GRCh37: 10:73464800-73464800
GRCh38: 10:71705043-71705043
39 RRM2B NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) SNV Likely Pathogenic
977276 rs1810682433 GRCh37: 8:103226285-103226285
GRCh38: 8:102214057-102214057
40 STX4 NM_004604.5(STX4):c.232+6T>C SNV Likely Pathogenic
1676769 GRCh37: 16:31045652-31045652
GRCh38: 16:31034331-31034331
41 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) SNV Likely Pathogenic
374094 rs1057518895 GRCh37: X:129271109-129271109
GRCh38: X:130137134-130137134
42 SPNS2 NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter) SNV Likely Pathogenic
1704252 GRCh37: 17:4435950-4435950
GRCh38: 17:4532655-4532655
43 HARS2 NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer) INDEL Likely Pathogenic
635271 rs1581550832 GRCh37: 5:140076529-140076529
GRCh38: 5:140696944-140696944
44 HARS2 NM_012208.4(HARS2):c.413G>A (p.Arg138His) SNV Likely Pathogenic
635272 rs1432653451 GRCh37: 5:140075106-140075106
GRCh38: 5:140695521-140695521
45 LOC119407423, HARS2 NM_012208.4(HARS2):c.72C>A (p.Cys24Ter) SNV Likely Pathogenic
635273 rs1581536078 GRCh37: 5:140071305-140071305
GRCh38: 5:140691720-140691720
46 GJB2 NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) SNV Likely Pathogenic
586962 rs104894403 GRCh37: 13:20763525-20763525
GRCh38: 13:20189386-20189386
47 GIPC3 NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) SNV Likely Pathogenic
620637 rs1348505504 GRCh37: 19:3586667-3586667
GRCh38: 19:3586669-3586669
48 overlap with 11 genes GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 CN GAIN Uncertain Significance
635776 GRCh37: 5:179065654-179541490
GRCh38:
49 GIPC3 NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) SNV Uncertain Significance
163502 rs727503062 GRCh37: 19:3585717-3585717
GRCh38: 19:3585719-3585719
50 ESPN NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr) SNV Uncertain Significance
694651 rs776386029 GRCh37: 1:6501045-6501045
GRCh38: 1:6440985-6440985

Copy number variations for Sensorineural Hearing Loss from CNVD:

6 (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



Pathways directly related to Sensorineural Hearing Loss:

# Pathway Source
1 Defective SLC26A4 causes Pendred syndrome (PDS) Reactome 66
2 Defective SLC33A1 causes spastic paraplegia 42 (SPG42) Reactome 66

GO Terms for Sensorineural Hearing Loss

Cellular components related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.92 MYO7A MYO3A CDC14A

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

# Name GO ID Score Top Affiliating Genes
1 membrane protein proteolysis GO:0033619 9.56 RET AFG3L2
2 transepithelial chloride transport GO:0030321 9.46 SLC12A2 CLCNKA
3 sensory perception of sound GO:0007605 9.4 WFS1 TMIE MYO7A MYO3A GJB2 CDC14A
4 olfactory behavior GO:0042048 9.26 WFS1 LMX1A

Sources for Sensorineural Hearing Loss

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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