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MCID: SNS001
MIFTS: 60

Sensorineural Hearing Loss

Categories: Ear diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sensorineural Hearing Loss

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MalaCards integrated aliases for Sensorineural Hearing Loss:

Name: Sensorineural Hearing Loss 12 74 29 6 15 17 71
Sensory Hearing Loss 12 54 71
Hearing Loss, High-Frequency 43 71
Hearing Loss, Sensorineural 43 39
Hearing Loss, Central 43 71
Perceptive Hearing Loss or Deafness 12
Sensorineural Hearing Loss Disorder 6
High Frequency Hearing Loss 12
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
Central Hearing Loss 12
Perceptive Deafness 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:10003
ICD9CM 34 389.1 389.14
UMLS 71 C0018776 C0018780 C0018784 more
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Summaries for Sensorineural Hearing Loss

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MalaCards based summary : Sensorineural Hearing Loss, also known as sensory hearing loss, is related to deafness, autosomal dominant 1 and autosomal dominant non-syndromic sensorineural deafness type dfna, and has symptoms including tinnitus An important gene associated with Sensorineural Hearing Loss is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways is Gap junction trafficking. The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and brain, and related phenotypes are hearing/vestibular/ear and nervous system

Wikipedia : 74 Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner... more...

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Related Diseases for Sensorineural Hearing Loss

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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 1487)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 34.8 WFS1 MYO7A GJB2
2 autosomal dominant non-syndromic sensorineural deafness type dfna 34.5 WFS1 MYO7A MYH9 KCNQ4 GJB6 GJB3
3 bart-pumphrey syndrome 34.5 GJB6 GJB3 GJB2
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 34.5 SLC26A4 SERPINB6 OTOF MYO7A MYH9 KARS1
5 deafness, x-linked 2 34.4 SLC26A4 GJB6 GJB3 GJB2 COCH
6 pendred syndrome 34.2 SLC26A4 OTOF MYO7A MITF GJB6 GJB2
7 deafness, autosomal dominant 6 34.2 WFS1 SLC26A4 MYO7A KCNQ4 GJB2 COCH
8 deafness, autosomal recessive 9 34.2 SLC26A4 OTOF MYO7A GJB2
9 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 34.1 SLC26A4 OTOF MYO7A KCNQ4 GJB6 GJB3
10 deafness, autosomal dominant 22 34.1 MYO7A COCH
11 deafness, autosomal recessive 1a 34.0 SLC26A4 OTOF MYO7A KCNQ4 GJB6 GJB3
12 deafness, autosomal recessive 7 34.0 SLC26A4 OTOF MYO7A GJB2
13 deafness, autosomal recessive 12 34.0 SLC26A4 OTOF MYO7A GJB2
14 deafness, autosomal recessive 2 34.0 SLC26A4 OTOF MYO7A GJB2
15 deafness, autosomal dominant 9 33.9 WFS1 MYO7A KCNQ4 GJB3 GJB2 COCH
16 deafness, autosomal recessive 16 33.9 SLC26A4 OTOF GJB2
17 deafness, autosomal dominant 36 33.9 SLC26A4 OTOF GJB2
18 deafness, autosomal dominant 3a 33.9 GJB6 GJB3 GJB2 COCH ATP6V1B1
19 deafness, autosomal dominant 11 33.8 MYO7A GJB2 COCH
20 deafness, autosomal dominant 20 33.8 SLC26A4 KCNQ4 COCH
21 deafness, autosomal recessive 91 33.8 SERPINB6 GJB3 GJB2 COCH
22 deafness, autosomal dominant 2a 33.8 KCNQ4 GJB3 GJB2 COCH
23 deafness, autosomal dominant 41 33.8 SLC26A4 KCNQ4 GJB2
24 usher syndrome, type i 33.8 SLC26A4 OTOF MYO7A GJB6 GJB2 COCH
25 deafness, autosomal dominant 56 33.8 SLC26A4 GJB2 COCH
26 usher syndrome 33.8 SLC26A4 OTOF MYO7A MYH9 GJB6 GJB2
27 keratoderma, palmoplantar, with deafness 33.7 GJB6 GJB3 GJB2
28 deafness, autosomal dominant 25 33.6 OTOF MYO7A KCNQ4 COCH
29 deafness, autosomal recessive 8 33.6 OTOF GJB2
30 deafness, autosomal dominant 15 33.5 MYO7A KCNQ4 COCH
31 deafness, autosomal dominant 3b 33.5 GJB6 GJB3 GJB2
32 deafness, autosomal recessive 1b 33.5 GJB6 GJB3 GJB2
33 deafness, autosomal dominant 67 33.4 OTOF GJB2
34 deafness, autosomal dominant 64 33.4 KCNQ4 GJB2
35 waardenburg's syndrome 33.4 SLC26A4 RET MITF GJB2
36 deafness, autosomal recessive 3 33.4 MYO7A GJB2
37 deafness, autosomal recessive 61 33.3 SLC26A4 OTOF
38 deafness, autosomal dominant 13 33.3 KCNQ4 COCH
39 auditory neuropathy, autosomal dominant, 1 33.3 OTOF GJB2
40 myh-9 related disease 33.3 MYO7A MYH9
41 deafness, autosomal dominant 28 33.2 KCNQ4 COCH
42 branchiootic syndrome 1 33.2 SLC26A4 OTOF MYO7A GJB2
43 usher syndrome, type id 33.1 SLC26A4 MYO7A GJB2
44 usher syndrome, type iia 33.1 SLC26A4 OTOF MYO7A GJB2
45 keratitis-ichthyosis-deafness syndrome, autosomal dominant 33.0 GJB6 GJB2
46 usher syndrome, type ic 33.0 MYO7A GJB2
47 waardenburg syndrome, type 1 33.0 WFS1 MITF GJB2 COCH
48 autosomal dominant nonsyndromic deafness 32.9 WFS1 SLC26A4 OTOF MYO7A MYH9 KCNQ4
49 autosomal recessive nonsyndromic deafness 32.8 SLC26A4 OTOF MYO7A GJB2
50 autosomal recessive nonsyndromic deafness 3 32.8 SLC26A4 OTOF MYO7A 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
Sources

Symptoms & Phenotypes for Sensorineural Hearing Loss

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UMLS symptoms related to Sensorineural Hearing Loss:


tinnitus

MGI Mouse Phenotypes related to Sensorineural Hearing Loss:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.9 ATP6V1B1 COCH GJB2 GJB3 GJB6 KCNQ4
2 nervous system MP:0003631 9.7 ATP6V1B1 GJB2 GJB6 KCNQ4 MITF MYH9
3 no phenotypic analysis MP:0003012 9.28 GJB2 GJB3 GJB6 MITF MYH9 MYO7A
Sources

Drugs & Therapeutics for Sensorineural Hearing Loss

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

(show top 50) (show all 140)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Prilocaine Approved Phase 4 721-50-6 4906
5 Anesthetics Phase 4
6 Sodium Channel Blockers Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Diuretics, Potassium Sparing Phase 4
9 Hormones Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 Hormone Antagonists Phase 4
12 glucocorticoids Phase 4
13 Anti-Inflammatory Agents Phase 4
14
protease inhibitors Phase 4
15 Antiemetics Phase 4
16 HIV Protease Inhibitors Phase 4
17 Gastrointestinal Agents Phase 4
18 Dexamethasone 21-phosphate Phase 4
19 BB 1101 Phase 4
20 Anesthetics, Local Phase 4
21 Lidocaine, Prilocaine Drug Combination Phase 4
22 Ginkgo Phase 4
23
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
24
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
25
Acyclovir Approved Phase 2, Phase 3 59277-89-3 2022
26
Acetaminophen Approved Phase 3 103-90-2 1983
27
Glycerol Approved, Investigational Phase 3 56-81-5 753
28
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
29
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
30
leucovorin Approved Phase 3 58-05-9 6006 143
31
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
32
Valganciclovir Approved, Investigational Phase 3 175865-60-8 64147
33
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
34
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
35 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
36 Hypoglycemic Agents Phase 2, Phase 3
37 Iron Chelating Agents Phase 2, Phase 3
38 Sitagliptin Phosphate Phase 2, Phase 3
39 Incretins Phase 2, Phase 3
40 Protective Agents Phase 3
41 Analgesics, Non-Narcotic Phase 3
42 Analgesics Phase 3
43 Antipyretics Phase 3
44 Pharmaceutical Solutions Phase 3
45 Vitamin B Complex Phase 3
46 Immunologic Factors Phase 3
47 Folic Acid Antagonists Phase 3
48 Folate Phase 3
49 Dermatologic Agents Phase 3
50 Immunosuppressive Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 268)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 Lidocaine Patch (Lidocaine 5%) as a Treatment for Tinnitus and Its Accompanied Symptoms Unknown status NCT02750969 Phase 4
3 Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study Completed NCT01054378 Phase 4
4 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment. Completed NCT01372904 Phase 4 Dexamethasone Phosphate
5 EMLA 5% as a Treatment for Tinnitus and Its Accompanied Symptoms Completed NCT02266160 Phase 4 EMLA cream 5%
6 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
7 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
8 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
9 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
10 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
11 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
12 Assessment of Acyclovir Efficacy Versus Placebo in Controlling Vertigo Attacks of Patients With Meniere's Disease Visited in Amiralam Hospital Unknown status NCT01729767 Phase 2, Phase 3 Acyclovir;Placebo
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 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
15 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
16 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)
17 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
18 A Phase III Trial of Magnesium Dependent Tinnitus Completed NCT01273883 Phase 3
19 Oral Glycerol and High-Dose Rectal Paracetamol to Improve the Prognosis of Childhood Bacterial Meningitis - A Prospective, Randomized, and Double-Blind Clinical Study Using a Two-by-Two Factorial Design Completed NCT00619203 Phase 3 Glycerol and paracetamol;Paracetamol;Paracetamol;Paracetamol;Placebo;Paracetamol and glycerol;Glycerol
20 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
21 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
22 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
23 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
24 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
25 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
26 Transtympanic Administration of Lactate: An Innovative Otoprotection for Patients Receiving Cisplatin or Carboplatin Chemotherapy Unknown status NCT01108601 Phase 1, Phase 2 Ringer's Lactate (0.03% Ciprofloxacin)
27 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
28 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
29 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
30 Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss Completed NCT02038972 Phase 1, Phase 2
31 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
32 An Open-label Study of the Effects of Gevokizumab in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01950312 Phase 2 gevokizumab
33 Phase 1b Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of SPI-1005 in Meniere's Disease Completed NCT02603081 Phase 1, Phase 2 SPI-1005
34 A Phase II Randomized and Controlled Investigation of Six Weeks of Oral Valganciclovir Therapy in Infants and Children With Congenital Cytomegalovirus Infection and Hearing Loss Completed NCT01649869 Phase 2 Valganciclovir
35 Efficacy of AM 101 in Patients With Acute Inner Ear Tinnitus: A Multi-Centre, Double-Blind, Randomised, Placebo-Controlled, Multiple Dose, Group Comparison Phase II Study Completed NCT00860808 Phase 2 AM-101
36 A Phase 2b, Randomized, Double-Blind, Placebo-Controlled Study To Evaluate The Safety And Efficacy of SPI-1005 in Meniere's Disease Completed NCT03325790 Phase 2 200mg SPI-1005 BID;400mg SPI-1005 BID
37 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag
38 Measurement and Prediction of Outcomes of Amplification Completed NCT00013416 Phase 2
39 Effects of an Intensified Treatment With ACE-inhibitors, Angiotensin II Receptor Antagonists and Statins in Alport Syndrome Completed NCT00309257 Phase 2 ACE I, ATA II and Statins;Benazepril, Valsartan and Fluvastatin
40 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 Recruiting NCT04120116 Phase 2 FX-322;Placebo
41 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 Recruiting NCT04129775 Phase 1, Phase 2 OTO-413;Placebo
42 Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants: ValEAR Trial Recruiting NCT03107871 Phase 2 Valganciclovir;Simple Syrup
43 A Phase II, Single Stage, Single-Arm Investigation of Oral Valganciclovir Therapy in Infants With Asymptomatic Congenital Cytomegalovirus Infection Recruiting NCT03301415 Phase 2 Valganciclovir
44 Intratympanic N-Acetylcysteine (NAC) Injections for Prevention of Cisplatin-induced Ototoxicity in Head and Neck Cancer Patients: A Multi-centre Phase II Randomized Controlled Trial. Recruiting NCT04291209 Phase 1, Phase 2 N-Acetyl Cysteine
45 Effectiveness of Therapy Via Telemedicine Following Cochlear Implants Active, not recruiting NCT02497690 Phase 2
46 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of SPI-1005 in Cystic Fibrosis (CF) Patients With Acute Pulmonary Exacerbation (APE) Receiving IV Tobramycin at Risk for Ototoxicity Enrolling by invitation NCT02819856 Phase 2 Placebo;SPI-1005 Ebselen 200mg Capsule x1;SPI-1005 Ebselen 200mg Capsule x2;SPI-1005 Ebselen 200mg Capsule x3
47 High Dose Oral Steroids in Sudden Sensorineural Hearing Loss Suspended NCT03255473 Phase 2 Dexamethasone;Prednisone
48 Safety of Infusion of Autologous Human Bone Marrow Mononuclear Fraction in Children With Sensorineural Hearing Loss Suspended NCT02616172 Phase 1, Phase 2
49 A Long-Term Outcome Study With the IL-1 Receptor Antagonist Anakinra/Kineret in Patients With Neonatal Onset Multisystem Inflammatory Disease (NOMID/CINCA Syndrome) A Therapeutic Approach to Study the Pathogenesis of This Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
50 A Phase I & II Open-label Study of the Effects of Anakinra (Kineret) in Corticosteroid-resistant Subjects With Sudden Sensorineural Heaing Loss (SSNHL) Terminated NCT02414152 Phase 1, Phase 2 anakinra

Search NIH Clinical Center for Sensorineural Hearing Loss

Cochrane evidence based reviews: hearing loss, central

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Genetic Tests for Sensorineural Hearing Loss

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Genetic tests related to Sensorineural Hearing Loss:

# Genetic test Affiliating Genes
1 Sensorineural Hearing Loss 29
Sources

Anatomical Context for Sensorineural Hearing Loss

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MalaCards organs/tissues related to Sensorineural Hearing Loss:

40
Bone, Testes, Brain, Cortex, Neutrophil, Kidney, Thyroid
Sources

Publications for Sensorineural Hearing Loss

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Articles related to Sensorineural Hearing Loss:

(show top 50) (show all 12350)
# Title Authors PMID Year
1
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. 61 54
20233142 2010
2
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 61 54
20174760 2010
3
[Auto-immune sensorineural deafness: physiopathology and therapeutic approach]. 54 61
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. 54 61
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]. 61 54
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
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. 61 54
18570691 2009
15
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. 61 54
19235794 2009
16
Genetic evaluation of American minority pediatric cochlear implant recipients. 61 54
19081147 2009
17
10p12.1 deletion: HDR phenotype without DGS2 features. 54 61
19022243 2009
18
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
19
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 61 54
19283857 2009
20
Sudden hearing loss in a family with GJB2 related progressive deafness. 54 61
18809215 2008
21
[Genetic analysis of family constellation for cochlear implant recipients]. 61 54
19073547 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. 61 54
18804074 2008
24
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 61 54
18688868 2008
25
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
26
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
27
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. 61 54
18983339 2008
28
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. 61 54
18641518 2008
29
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 61 54
18407919 2008
30
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 54 61
18472371 2008
31
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. 61 54
18518985 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. 61 54
18089569 2008
34
Prevalence and clinical significance of anticardiolipin, anti-beta2-glycoprotein-1, and anti-heat shock protein-70 autoantibodies in sudden sensorineural hearing loss. 61 54
18259075 2008
35
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
36
[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population]. 61 54
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]. 54 61
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. 54 61
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. 61 54
17007922 2007
46
Cochlear implants for DFNA17 deafness. 61 54
17146397 2006
47
Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype? 54 61
16952406 2006
48
Antibody reactivity to heat shock protein 70 and inner ear-specific proteins in patients with idiopathic sensorineural hearing loss. 54 61
17100761 2006
49
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. 54 61
16840571 2006
50
[The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene]. 61 54
16978745 2006
Sources

Variations for Sensorineural Hearing Loss

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ClinVar genetic disease variations for Sensorineural Hearing Loss:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
2 RET NM_020975.6(RET):c.1276_1277TG[2] (p.Val427fs)short repeat Pathogenic 590798 rs1564494285 10:43606667-43606668 10:43111219-43111220
3 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
4 CDC14A NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)SNV Pathogenic 559439 rs549556142 1:100949903-100949903 1:100484347-100484347
5 KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs)deletion Pathogenic 560389 rs1567498374 16:75664391-75664391 16:75630493-75630493
6 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
7 CDC14A NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs)deletion Pathogenic 691620 1:100963693-100963694 1:100498137-100498138
8 CDC14A NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)SNV Pathogenic 235145 rs876661408 1:100949996-100949996 1:100484440-100484440
9 46;XY;t(8;9)(q13;p22)dnTranslocation Pathogenic 267809
10 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
11 46;XY;t(6;11)(p12.3;p14.2)dnTranslocation Pathogenic 268006
12 CEP78 NM_001330691.3(CEP78):c.893-1G>ASNV Pathogenic 372269 rs1057517694 9:80863206-80863206 9:78248290-78248290
13 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs)deletion Pathogenic 372270 rs1057517695 9:80856645-80856645 9:78241729-78241729
14 COL11A2 NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)SNV Likely pathogenic 374129 rs745434198 6:33133760-33133760 6:33165983-33165983
15 46;XY;t(5;7)(q14.3;q21.3)dnTranslocation Likely pathogenic 267872
16 GIPC3 NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr)SNV Likely pathogenic 620637 rs1348505504 19:3586667-3586667 19:3586669-3586669
17 GJB2 NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)SNV Likely pathogenic 586962 rs104894403 13:20763525-20763525 13:20189386-20189386
18 HARS2 NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)SNV Likely pathogenic 635273 5:140071305-140071305 5:140691720-140691720
19 HARS2 NM_012208.4(HARS2):c.413G>A (p.Arg138His)SNV Likely pathogenic 635272 5:140075106-140075106 5:140695521-140695521
20 HARS2 NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly277_Val278insTyrProTer)indel Likely pathogenic 635271 5:140076529-140076529 5:140696944-140696944
21 HARS2 NM_012208.4(HARS2):c.1439G>A (p.Arg480His)SNV Likely pathogenic 635270 5:140077641-140077641 5:140698056-140698056
22 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
23 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)SNV Likely pathogenic 444219 rs756147087 10:73464800-73464800 10:71705043-71705043
24 TECTA NM_005422.2(TECTA):c.3107G>A (p.Cys1036Tyr)SNV Likely pathogenic 517663 rs772606235 11:121008295-121008295 11:121137586-121137586
25 AIFM1 NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)SNV Likely pathogenic 374094 rs1057518895 X:129271109-129271109 X:130137134-130137134
26 LMX1A NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)SNV Conflicting interpretations of pathogenicity 517667 rs763320093 1:165173160-165173160 1:165203923-165203923
27 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
28 GIPC3 NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)SNV Conflicting interpretations of pathogenicity 163502 rs727503062 19:3585717-3585717 19:3585719-3585719
29 MT-CYB NC_012920.1:m.15127C>TSNV Uncertain significance 370064 rs1057516074 MT:15127-15127 MT:15127-15127
30 MYH14 NM_001145809.2(MYH14):c.1945+6G>ASNV Uncertain significance 374064 rs1057518869 19:50756016-50756016 19:50252759-50252759
31 46;XX;t(1;13)(q11.2;p11.2)dnTranslocation Uncertain significance 267932
32 ESPN NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr)SNV Uncertain significance 694651 1:6501045-6501045 1:6440985-6440985
33 PDZD7 NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)SNV Uncertain significance 694649 10:102778815-102778815 10:101019058-101019058
34 PTPRQ NM_001145026.2(PTPRQ):c.6327+1G>ASNV Uncertain significance 694646 12:81062921-81062921 12:80669142-80669142
35 ESPN NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser)SNV Uncertain significance 523541 rs921702586 1:6511981-6511981 1:6451921-6451921
36 GSDME NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys)SNV Uncertain significance 523410 rs148449230 7:24758786-24758786 7:24719167-24719167
37 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr)SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247
38 covers 11 genes, none of which curated to show dosage sensitivity GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3copy number gain Uncertain significance 635776 5:179065654-179541490
39 GABRA1 NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg)SNV Uncertain significance 625850 rs1561571575 5:161292771-161292771 5:161865765-161865765

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
Sources

Expression for Sensorineural Hearing Loss

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

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Pathways related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gap junction trafficking 65
Show member pathways
 10.79 GJB6 GJB3 GJB2
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GO Terms for Sensorineural Hearing Loss

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 SLC26A4 MYO7A GJB6 ATP6V1B1
2 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
3 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 SLC26A4 KCNQ4 GJB6 GJB3 GJB2
2 inner ear morphogenesis GO:0042472 9.54 MYO7A KCNQ4 ATP6V1B1
3 actin filament-based movement GO:0030048 9.52 MYO7A MYH9
4 regulation of pH GO:0006885 9.51 SLC26A4 ATP6V1B1
5 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.48 WFS1 TMCO1
6 ER overload response GO:0006983 9.46 WFS1 TMCO1
7 olfactory behavior GO:0042048 9.43 WFS1 ATP6V1B1
8 inner ear development GO:0048839 9.43 MYO7A GJB6 GJB2
9 gap junction assembly GO:0016264 9.4 GJB6 GJB2
10 sensory perception of sound GO:0007605 9.36 WFS1 SLC26A4 SERPINB6 OTOF MYO7A KCNQ4
11 cell communication by electrical coupling GO:0010644 9.32 GJB6 GJB2
12 gap junction-mediated intercellular transport GO:1990349 9.16 GJB6 GJB2
13 cell communication GO:0007154 9.13 GJB6 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.46 WFS1 MYO7A MYH9 KCNQ4
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
3 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2
Sources

Sources for Sensorineural Hearing Loss

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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