MCID: SNS001
MIFTS: 59

Sensorineural Hearing Loss

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Sensorineural Hearing Loss

MalaCards integrated aliases for Sensorineural Hearing Loss:

Name: Sensorineural Hearing Loss 12 74 29 6 15 17 71
Sensory Hearing Loss 12 54 71
High Frequency Hearing Loss 12 6
Hearing Loss, Sensorineural 44 39
Perceptive Hearing Loss or Deafness 12
Hearing Loss, High-Frequency 71
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 71
Central Hearing Loss 12
Perceptive Deafness 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

Disease Ontology 12 DOID:10003
ICD9CM 34 389.1
MeSH 44 D006319
NCIt 50 C26739
SNOMED-CT 67 60700002
UMLS 71 C0018776 C0018780 C0018784 more

Summaries for Sensorineural Hearing Loss

MalaCards based summary : Sensorineural Hearing Loss, also known as sensory hearing loss, is related to autosomal recessive non-syndromic sensorineural deafness type dfnb and autosomal dominant non-syndromic sensorineural deafness type dfna, and has symptoms including tinnitus An important gene associated with Sensorineural Hearing Loss is GJB2 (Gap Junction Protein Beta 2). The drugs Lidocaine and Ginkgo have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and kidney, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 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 1508)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 33.3 MYH9 KARS1 GJB2 GIPC3 COL11A2 CDH23
2 autosomal dominant non-syndromic sensorineural deafness type dfna 33.2 WFS1 MYH9 LMX1A GJB2 COL11A2
3 deafness, autosomal dominant 1, with or without thrombocytopenia 33.1 WFS1 GJB2
4 deafness, autosomal dominant 6 33.0 WFS1 GJB2 COL11A2 CDH23
5 branchiootic syndrome 1 32.8 KARS1 GJB2 CDH23
6 perrault syndrome 32.8 KARS1 HARS2 AFG3L2
7 deafness, autosomal dominant 9 32.8 WFS1 GJB2 COL11A2
8 deafness, autosomal dominant 41 32.7 GJB2 CDH23
9 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.7 GJB2 COL11A2 CDH23
10 deafness, autosomal dominant 11 32.7 GJB2 COL11A2 CDH23
11 usher syndrome 32.7 WFS1 PEX6 MYH9 GJB2 CEP78 CDH23
12 deafness, autosomal recessive 91 32.6 GJB2 CDH23
13 deafness, autosomal recessive 7 32.6 GJB2 CDH23
14 waardenburg's syndrome 32.6 WFS1 RET GJB2 CDH23
15 deafness, autosomal recessive 18a 32.6 WFS1 CDH23
16 usher syndrome, type iiia 32.5 HARS2 CEP78 CDH23
17 deafness, autosomal recessive 2 32.5 GJB2 CDH23
18 usher syndrome, type ic 32.5 GJB2 CDH23
19 deafness, autosomal recessive 21 32.5 GJB2 COL11A2
20 deafness, autosomal recessive 16 32.5 GJB2 CDH23
21 deafness, autosomal dominant 36 32.4 GJB2 CDH23
22 inner ear disease 32.0 WFS1 SLC12A2 GJB2 CDH23 BRF1
23 nonsyndromic hearing loss 32.0 WFS1 KARS1 GJB2 COL11A2 CDH23
24 auditory system disease 31.8 WFS1 GJB2 COL11A2 CDH23
25 autosomal dominant nonsyndromic deafness 31.8 WFS1 MYH9 GJB2 COL11A2 CDH23
26 nonsyndromic deafness 31.7 WFS1 MYH9 GJB2 COL11A2
27 autosomal recessive nonsyndromic deafness 31.7 GJB2 GIPC3 CDH23
28 autosomal recessive nonsyndromic deafness 3 31.6 GJB2 CDH23
29 non-syndromic genetic deafness 31.4 KARS1 GJB2 CDH23
30 deafness, autosomal recessive 77 31.3 GJB2 CDH23
31 cleft palate, isolated 31.2 WFS1 TMCO1 MYH9 COL11A2
32 usher syndrome type 2 31.0 GJB2 CDH23 BBS10
33 deafness, autosomal recessive 31.0 MYH9 KARS1 GJB2 GIPC3 CDC14A
34 fundus dystrophy 30.8 PEX6 COL11A2 CEP78 CDH23 BBS10
35 optic nerve disease 30.6 WFS1 KARS1 AFG3L2
36 vestibular disease 30.4 GJB2 CDH23
37 sudden sensorineural hearing loss 11.9
38 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.8
39 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.8
40 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 11.8
41 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 11.8
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.7
43 heimler syndrome 1 11.7
44 cardiomyopathy, dilated, 1j 11.7
45 bjornstad syndrome 11.6
46 deafness, nonsyndromic sensorineural, mitochondrial 11.6
47 fibromatosis, gingival, with progressive deafness 11.6
48 pituitary hormone deficiency, combined, 3 11.6
49 bart-pumphrey syndrome 11.6
50 deafness and myopia 11.5

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 10.18 AFG3L2 BBS10 CDH23 COL11A2 GIPC3 HARS2
2 growth/size/body region MP:0005378 10.17 AFG3L2 BBS10 BRF1 CDH23 COL11A2 GJB2
3 embryo MP:0005380 10.02 AFG3L2 BBS10 BRF1 GJB2 KARS1 LMX1A
4 homeostasis/metabolism MP:0005376 9.97 BBS10 BRF1 CDH23 COL11A2 GIPC3 GJB2
5 hearing/vestibular/ear MP:0005377 9.86 CDH23 COL11A2 GIPC3 GJB2 HARS2 LMX1A
6 mortality/aging MP:0010768 9.86 AFG3L2 BBS10 BRF1 CDC14A CDH23 GJB2
7 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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Ginkgo Phase 4
3
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
4
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
5
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
6
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
8
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
9
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
10
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
11
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
12
Valganciclovir Approved, Investigational Phase 3 175865-60-8 64147
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14 HIV Protease Inhibitors Phase 2, Phase 3
15
protease inhibitors Phase 2, Phase 3
16 Chelating Agents Phase 2, Phase 3
17 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
18 Incretins Phase 2, Phase 3
19 Hypoglycemic Agents Phase 2, Phase 3
20 Sitagliptin Phosphate Phase 2, Phase 3
21 Iron Chelating Agents Phase 2, Phase 3
22 Pharmaceutical Solutions Phase 3
23 Anesthetics Phase 3
24 Antirheumatic Agents Phase 3
25 Immunosuppressive Agents Phase 3
26 Vitamin B Complex Phase 3
27 Folic Acid Antagonists Phase 3
28 Antimetabolites Phase 3
29 Vitamin B9 Phase 3
30 Dermatologic Agents Phase 3
31 Folate Phase 3
32 Immunologic Factors Phase 3
33 Anti-Infective Agents Phase 3
34 Antiviral Agents Phase 3
35 Ancrod Approved, Investigational Phase 1, Phase 2 9046-56-4
36
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
37
Povidone Approved Phase 2 9003-39-8 131751496
38 Fibrinolytic Agents Phase 1, Phase 2
39 Anticoagulants Phase 1, Phase 2
40 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2
41 BB 1101 Phase 2
42 Dexamethasone 21-phosphate Phase 2
43 Sodium Benzoate Phase 2
44
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
45
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
46
Cysteine Approved, Nutraceutical Phase 1 52-90-4 5862
47 Respiratory System Agents Phase 1
48 Antioxidants Phase 1
49 N-monoacetylcystine Phase 1
50 Expectorants Phase 1

Interventional clinical trials:

(show top 50) (show all 192)
# 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 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
4 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
5 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
6 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
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 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
9 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
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 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
12 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
13 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
14 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
15 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
16 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
17 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
18 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
19 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
20 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
21 Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss Completed NCT02038972 Phase 1, Phase 2
22 Effectiveness of Therapy Via Telemedicine Following Cochlear Implants Completed NCT02497690 Phase 2
23 High Dose Oral Steroids in Sudden Sensorineural Hearing Loss Recruiting NCT03255473 Phase 2 Dexamethasone;Prednisone
24 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 Recruiting NCT04462198 Phase 1, Phase 2 PIPE-505;Diluent alone
25 Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants: ValEAR Trial Recruiting NCT03107871 Phase 2 Valganciclovir;Simple Syrup
26 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
27 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
28 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
29 Safety of Infusion of Autologous Human Bone Marrow Mononuclear Fraction in Children With Sensorineural Hearing Loss Suspended NCT02616172 Phase 1, Phase 2
30 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
31 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
32 Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding Completed NCT00582946 Phase 1
33 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
34 Auditory Brain Training to Enhance Satisfaction and Usage of New Hearing Aids by Older Adults Recruiting NCT04230876 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 Age-Related Sensorineural Hearing Loss Active, not recruiting NCT04601909 Phase 1 FX-322
36 Triamcinolone Levels in Cochlear Perilymph Enrolling by invitation NCT03248856 Phase 1 Triamcinolone Acetonide
37 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
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 Comparison of Patient Satisfaction and Audiological Performance Between Neuro 1 and Neuro 2 Speech Processors Unknown status NCT03288753
41 Objective Measures in Cochlear Implant in Children and Its Correlation to Outcome Unknown status NCT03260374
42 Comparison of Audiometric Performance Between the Neuro 1 and Neuro 2 Sound Processors. Unknown status NCT03756337
43 Effects of Propofol and Sevoflurane on Blood Folic Acid and Homocysteine Concentrations in Children With Cochlear Implant Surgery Unknown status NCT03595163 Sevoflurane;Propofol
44 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
45 Evaluation of Intra and Post-operative Electrocochleography for the Monitoring of Residual Hearing Unknown status NCT03848338
46 The Registry of Hyperbaric Oxygen Therapy Treated Patients Unknown status NCT02483650
47 Auditory Nerve Monitoring Using Intra-cochlear Stimulation in Subjects With Acoustic Neuroma : Feasibility Study Unknown status NCT02948790
48 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
49 CNS Infections Effect on the Inner Ear Unknown status NCT03715569
50 The Evaluation of the Ischemia-modified Albumin Levels in the Patients With Sudden Sensorineural Hearing Loss Unknown status NCT03706183

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

Publications for Sensorineural Hearing Loss

Articles related to Sensorineural Hearing Loss:

(show top 50) (show all 12863)
# Title Authors PMID Year
1
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 61 54
20174760 2010
2
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. 61 54
20233142 2010
3
[Auto-immune sensorineural deafness: physiopathology and therapeutic approach]. 61 54
19233519 2010
4
GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. 54 61
19887791 2010
5
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
6
The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. 54 61
19723508 2009
7
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 61 54
19645626 2009
8
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 61 54
19786220 2009
9
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 61 54
19364879 2009
10
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. 54 61
19509082 2009
11
[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. 54 61
19954013 2009
12
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. 61 54
19187973 2009
13
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
14
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. 61 54
19235794 2009
15
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. 61 54
18570691 2009
16
10p12.1 deletion: HDR phenotype without DGS2 features. 61 54
19022243 2009
17
Genetic evaluation of American minority pediatric cochlear implant recipients. 61 54
19081147 2009
18
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 61 54
18688874 2009
19
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 61 54
19283857 2009
20
[Genetic analysis of family constellation for cochlear implant recipients]. 54 61
19073547 2008
21
Sudden hearing loss in a family with GJB2 related progressive deafness. 61 54
18809215 2008
22
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
23
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. 54 61
18804074 2008
24
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 61 54
18688868 2008
25
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. 61 54
18641518 2008
26
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
27
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. 54 61
18983339 2008
28
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. 61 54
18285825 2008
29
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 54 61
18407919 2008
30
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. 61 54
18518985 2008
31
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 61 54
18472371 2008
32
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. 61 54
18412859 2008
33
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 54 61
18089569 2008
34
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
35
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
36
[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
37
[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
38
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 54 61
17666888 2007
39
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing? 54 61
17455295 2007
40
Comparison of immune assays for the detection of anti-HSP70 antibodies in patients with idiopathic sensorineural hearing loss. 61 54
17434470 2007
41
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. 61 54
17255958 2007
42
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. 61 54
17517145 2007
43
Etiology of severe sensorineural hearing loss in children: independent impact of congenital cytomegalovirus infection and GJB2 mutations. 54 61
17299707 2007
44
Audiologic findings in children with biotinidase deficiency in Turkey. 61 54
17161472 2007
45
The effect of polypyrrole with incorporated neurotrophin-3 on the promotion of neurite outgrowth from auditory neurons. 54 61
17007922 2007
46
Antibody reactivity to heat shock protein 70 and inner ear-specific proteins in patients with idiopathic sensorineural hearing loss. 61 54
17100761 2006
47
Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype? 61 54
16952406 2006
48
Cochlear implants for DFNA17 deafness. 61 54
17146397 2006
49
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. 61 54
16840571 2006
50
[The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene]. 54 61
16978745 2006

Variations for Sensorineural Hearing Loss

ClinVar genetic disease variations for Sensorineural Hearing Loss:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMX1A NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) SNV Pathogenic 517667 rs763320093 1:165173160-165173160 1:165203923-165203923
2 RET NM_020975.6(RET):c.1276_1277TG[2] (p.Val427fs) Microsatellite Pathogenic 590798 rs1564494285 10:43606667-43606668 10:43111219-43111220
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser) SNV Pathogenic 972899 5:127512829-127512829 5:128177137-128177137
4 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) Deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
5 KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs) Deletion Pathogenic 560389 rs1567498374 16:75664391-75664391 16:75630493-75630493
6 CDC14A NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) SNV Pathogenic 235145 rs876661408 1:100949996-100949996 1:100484440-100484440
7 CDC14A NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) SNV Pathogenic 559439 rs549556142 1:100949903-100949903 1:100484347-100484347
8 CDC14A NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs) Deletion Pathogenic 691620 rs1571346132 1:100963693-100963694 1:100498137-100498138
9 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs) Deletion Pathogenic 372270 rs1057517695 9:80856645-80856645 9:78241729-78241729
10 CEP78 NM_001330691.3(CEP78):c.893-1G>A SNV Pathogenic 372269 rs1057517694 9:80863206-80863206 9:78248290-78248290
11 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic 17020 rs28931594 13:20763573-20763573 13:20189434-20189434
12 PEX6 NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) SNV Pathogenic 553552 rs267608239 6:42933788-42933788 6:42966050-42966050
13 PEX6 NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) SNV Pathogenic 869197 6:42946518-42946518 6:42978780-42978780
14 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
15 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
16 BRF1 NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) SNV Pathogenic 867234 rs1343140353 14:105707642-105707642 14:105241305-105241305
17 KARS1 NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) SNV Pathogenic 694746 rs1415687857 16:75663371-75663371 16:75629473-75629473
18 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
19 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
20 AFG3L2 NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) SNV Pathogenic 973105 18:12353102-12353102 18:12353103-12353103
21 RRM2B NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) SNV Likely pathogenic 977276 8:103226285-103226285 8:102214057-102214057
22 TBCEL-TECTA NM_005422.2(TECTA):c.3107G>A (p.Cys1036Tyr) SNV Likely pathogenic 517663 rs772606235 11:121008295-121008295 11:121137586-121137586
23 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
24 HARS2 NM_012208.4(HARS2):c.1439G>A (p.Arg480His) SNV Likely pathogenic 635270 rs200089613 5:140077641-140077641 5:140698056-140698056
25 HARS2 NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly277_Val278insTyrProTer) Indel Likely pathogenic 635271 rs1581550832 5:140076529-140076529 5:140696944-140696944
26 HARS2 NM_012208.4(HARS2):c.413G>A (p.Arg138His) SNV Likely pathogenic 635272 rs1432653451 5:140075106-140075106 5:140695521-140695521
27 LOC119407423 NM_012208.4(HARS2):c.72C>A (p.Cys24Ter) SNV Likely pathogenic 635273 rs1581536078 5:140071305-140071305 5:140691720-140691720
28 GJB2 NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) SNV Likely pathogenic 586962 rs104894403 13:20763525-20763525 13:20189386-20189386
29 GIPC3 NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) SNV Likely pathogenic 620637 rs1348505504 19:3586667-3586667 19:3586669-3586669
30 RAB33A NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) SNV Likely pathogenic 374094 rs1057518895 X:129271109-129271109 X:130137134-130137134
31 COL11A2 NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) SNV Likely pathogenic 374129 rs745434198 6:33133760-33133760 6:33165983-33165983
32 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) SNV Likely pathogenic 444219 rs756147087 10:73464800-73464800 10:71705043-71705043
33 GGPS1 NM_004837.4(GGPS1):c.269A>G (p.Asn90Ser) SNV Uncertain significance 869201 1:235505453-235505453 1:235342138-235342138
34 MRNIP GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 copy number gain Uncertain significance 635776 5:179065654-179541490
35 GIPC3 NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) SNV Uncertain significance 163502 rs727503062 19:3585717-3585717 19:3585719-3585719
36 PTPRQ NM_001145026.2(PTPRQ):c.6327+1G>A SNV Uncertain significance 694646 rs1592779077 12:81062921-81062921 12:80669142-80669142
37 PDZD7 NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter) SNV Uncertain significance 694649 rs1002525817 10:102778815-102778815 10:101019058-101019058
38 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
39 ESPN NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser) SNV Uncertain significance 523541 rs921702586 1:6511981-6511981 1:6451921-6451921
40 LARS1 NM_020117.11(LARS1):c.1880C>T (p.Pro627Leu) SNV Uncertain significance 871841 5:145522645-145522645 5:146143082-146143082
41 MYH14 NM_001145809.2(MYH14):c.1945+6G>A SNV Uncertain significance 374064 rs1057518869 19:50756016-50756016 19:50252759-50252759
42 GSDME NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) SNV Uncertain significance 523410 rs148449230 7:24758786-24758786 7:24719167-24719167
43 ESPN NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr) SNV Uncertain significance 694651 rs776386029 1:6501045-6501045 1:6440985-6440985
44 TOP1MT NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro) SNV Uncertain significance 869198 8:144403402-144403402 8:143321232-143321232
45 TFAM NM_003201.3(TFAM):c.694C>T (p.Arg232Cys) SNV Uncertain significance 869199 10:60154787-60154787 10:58395027-58395027
46 GGPS1 NM_004837.4(GGPS1):c.782G>A (p.Arg261His) SNV Uncertain significance 869200 1:235505966-235505966 1:235342651-235342651
47 GABRA1 NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) SNV Uncertain significance 625850 rs1561571575 5:161292771-161292771 5:161865765-161865765
48 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) SNV Uncertain significance 188488 rs150529554 13:20763366-20763366 13:20189227-20189227
49 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247
50 MT-CYB NC_012920.1:m.15127C>T SNV Uncertain significance 370064 rs1057516074 MT:15127-15127 MT:15127-15127

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 9.02 WFS1 GJB2 COL11A2 CDH23 CDC14A
5 olfactory behavior GO:0042048 8.96 WFS1 LMX1A

Molecular functions related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.17 RET PEX6 MYH9 KARS1 HARS2 BBS10

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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