MCID: DFN003
MIFTS: 26

Deafness and Hereditary Hearing Loss malady

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Deafness and Hereditary Hearing Loss

Aliases & Descriptions for Deafness and Hereditary Hearing Loss:

Name: Deafness and Hereditary Hearing Loss 23
Hereditary Hearing Loss and Deafness 24 29

Classifications:



Summaries for Deafness and Hereditary Hearing Loss

MalaCards based summary : Deafness and Hereditary Hearing Loss, also known as hereditary hearing loss and deafness, is related to pigmented nodular adrenocortical disease, primary, 2 and hirschsprung disease 2. An important gene associated with Deafness and Hereditary Hearing Loss is GJB2 (Gap Junction Protein Beta 2). The drugs Acetylcysteine and Iron have been mentioned in the context of this disorder. Related phenotypes are hearing/vestibular/ear and nervous system

GeneReviews: NBK1434

Related Diseases for Deafness and Hereditary Hearing Loss

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

(show all 28)
id Related Disease Score Top Affiliating Genes
1 pigmented nodular adrenocortical disease, primary, 2 10.2 DFNB59 GJB2
2 hirschsprung disease 2 10.2 DFNB59 GJB2
3 xanthinuria, type i 10.2 DFNB59 GJB2
4 cataract 26, multiple types 10.1 GJB2 MT-RNR1
5 sturge-weber syndrome, somatic, mosaic 10.1 GJB2 MT-RNR1
6 congenital herpes simplex 10.1 GJB2 MT-RNR1
7 molluscum contagiosum 10.1 GJB2 MT-RNR1
8 telangiectasia macularis eruptiva perstans 10.1 GJB2 GRHL2
9 leprosy 4 10.0 DFNB59 ESPN GJB2
10 panic disorder 3 10.0 CDH23 GJB2
11 autoimmune gastrointestinal dysmotility 10.0 DFNB59 GJB2 MT-RNR1
12 charcot-marie-tooth disease, type 1d 10.0 CDH23 GJB2
13 omenn syndrome 10.0 ESPN GJB2 MT-RNR1
14 manitoba oculotrichoanal syndrome 10.0 CDH23 DFNB59
15 sjogren-larsson syndrome 10.0 CDH23 DFNB59
16 autosomal dominant nonsyndromic deafness 69 10.0 CDH23 GJB2
17 autosomal recessive nonsyndromic deafness 97 9.9 CDH23 GJB2
18 obesity susceptibility, cartpt-related 9.9 ESPN GRXCR1
19 deafness, autosomal recessive 9.9 DFNB59 ESPN GRXCR1
20 deafness, autosomal recessive 23 9.9 CDH23 GJB2
21 cockayne syndrome 9.8 CDH23 GJB2 MT-RNR1
22 narcissistic personality disorder 9.8 CDH23 GJB2 MT-RNR1
23 hereditary colorectal cancer 9.8 DFNB59 ESPN GJB2 GRXCR1
24 erythrocytosis due to bisphosphoglycerate mutase deficiency 9.8 CDH23 GJB2
25 obesity susceptibility, adrb3-related 9.5 CDH23 DFNB59 ESPN GJB2 MT-RNR1
26 mitochondrial non-syndromic sensorineural deafness 9.5 CDH23 DFNB59 ESPN GJB2 GRXCR1
27 x-linked nonsyndromic deafness 9.5 CDH23 DFNB59 GJB2 GRXCR1 MT-RNR1
28 efemp2-related cutis laxa 8.8 CDH23 DFNB59 DSPP ESPN FAM189A2 GJB2

Graphical network of the top 20 diseases related to Deafness and Hereditary Hearing Loss:



Diseases related to Deafness and Hereditary Hearing Loss

Symptoms & Phenotypes for Deafness and Hereditary Hearing Loss

MGI Mouse Phenotypes related to Deafness and Hereditary Hearing Loss:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 CDH23 DFNB59 ESPN GJB2 GRXCR1
2 nervous system MP:0003631 9.1 DFNB59 ESPN GJB2 GRHL2 GRXCR1 CDH23

Drugs & Therapeutics for Deafness and Hereditary Hearing Loss

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

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Iron Approved Phase 2, Phase 3 7439-89-6 23925
3
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
4
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
5
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
6 Hormone Antagonists Phase 2, Phase 3
7 Hormones Phase 2, Phase 3
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
9 Hypoglycemic Agents Phase 2, Phase 3
10 Incretins Phase 2, Phase 3
11
protease inhibitors Phase 2, Phase 3
12 Gastrointestinal Agents Phase 3
13 HIV Protease Inhibitors Phase 2, Phase 3
14 Hypolipidemic Agents Phase 3,Phase 2
15 Immunoglobulins Phase 3,Phase 2
16 Antibodies, Monoclonal Phase 3,Phase 2
17 Lipid Regulating Agents Phase 3,Phase 2
18 Antimetabolites Phase 3,Phase 2
19 Antibodies Phase 3,Phase 2
20 N-monoacetylcystine Phase 2, Phase 3
21 Anti-Infective Agents Phase 2, Phase 3,Phase 1
22 Protective Agents Phase 2, Phase 3
23 Antiviral Agents Phase 2, Phase 3,Phase 1
24 Antioxidants Phase 2, Phase 3
25 Chelating Agents Phase 2, Phase 3
26 Sitagliptin Phosphate Phase 2, Phase 3
27 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
28 Expectorants Phase 2, Phase 3
29 Antidotes Phase 2, Phase 3
30 Iron Chelating Agents Phase 2, Phase 3
31 Respiratory System Agents Phase 2, Phase 3
32
Fluvastatin Approved Phase 2 93957-54-1 1548972
33
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
34
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
35
Bevacizumab Approved, Investigational Phase 2 216974-75-3
36
Bezafibrate Approved Phase 2 41859-67-0 39042
37
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
38
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
39
Busulfan Approved, Investigational Phase 2 55-98-1 2478
40
rituximab Approved Phase 2 174722-31-7 10201696
41
Zoledronic acid Approved Phase 2 118072-93-8 68740
42
Dantrolene Approved Phase 1, Phase 2 7261-97-4 2952 6914273
43
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
44
alemtuzumab Approved, Investigational Phase 2 216503-57-0
45
Thiotepa Approved Phase 2 52-24-4 5453
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
47
Lapatinib Approved March 2007, Investigational Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
48 Protein Kinase Inhibitors Phase 2,Early Phase 1
49
Angiotensin II Phase 2 68521-88-0, 11128-99-7 65143 172198
50 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 57)
id Name Status NCT ID Phase
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3
2 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3
3 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3
4 Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome Completed NCT00309257 Phase 2
5 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2
6 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
7 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
8 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2
9 The KHENERGY Study Recruiting NCT02909400 Phase 2
10 A Study of Bezafibrate in Mitochondrial Myopathy Recruiting NCT02398201 Phase 2
11 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Recruiting NCT01679080 Phase 2
12 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2
13 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
14 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2
15 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
16 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
17 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2
18 An Implant for Hearing Loss Due to Removal of Neurofibromatosis 2 Tumors Completed NCT00030043 Phase 1
19 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
20 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1
21 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
22 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
23 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327
24 Concentration and Activity of Lapatinib in Vestibular Schwannomas Unknown status NCT00863122 Early Phase 1
25 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
26 Genetic Studies of Tone Deafness Completed NCT00006076
27 Hereditary Deficits in Auditory Processing Leading to Language Impairment Completed NCT00004570
28 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
29 Turner Syndrome: Genotype and Phenotype Completed NCT00006334
30 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
31 Molecular Genetics of Retinal Degenerations Completed NCT00231010
32 Using Positron Emission Tomography to Predict Intracranial Tumor Growth in Neurofibromatosis Type II Patients Completed NCT01222728
33 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
34 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
35 Genetic Analysis of Hereditary Disorders of Hearing and Balance Recruiting NCT00023049
36 Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol Recruiting NCT00341874
37 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
38 North Carolina Newborn Exome Sequencing for Universal Screening Recruiting NCT02826694
39 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
40 Study of Taste Deficits Recruiting NCT00022997
41 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027
42 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
43 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087
44 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
46 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
47 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278
48 Resiliency Training for Patients With NF2 Via Videoconferencing With Skype Recruiting NCT02811718
49 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
50 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130

Search NIH Clinical Center for Deafness and Hereditary Hearing Loss

Genetic Tests for Deafness and Hereditary Hearing Loss

Genetic tests related to Deafness and Hereditary Hearing Loss:

id Genetic test Affiliating Genes
1 Hereditary Hearing Loss and Deafness 29 24

Anatomical Context for Deafness and Hereditary Hearing Loss

Publications for Deafness and Hereditary Hearing Loss

Articles related to Deafness and Hereditary Hearing Loss:

id Title Authors Year
1
Deafness and Hereditary Hearing Loss Overview ( 20301607 )
1993

Variations for Deafness and Hereditary Hearing Loss

Expression for Deafness and Hereditary Hearing Loss

Search GEO for disease gene expression data for Deafness and Hereditary Hearing Loss.

Pathways for Deafness and Hereditary Hearing Loss

GO Terms for Deafness and Hereditary Hearing Loss

Cellular components related to Deafness and Hereditary Hearing Loss according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microvillus GO:0005902 8.96 ESPN GRXCR1
2 stereocilium GO:0032420 8.8 CDH23 ESPN GRXCR1

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

id Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.16 CDH23 ESPN
2 sensory perception of sound GO:0007605 9.02 CDH23 DFNB59 ESPN GJB2 GRXCR1
3 inner ear receptor stereocilium organization GO:0060122 8.96 CDH23 GRXCR1

Sources for Deafness and Hereditary Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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