MCID: FML056
MIFTS: 19

Familial Deafness

Categories: Rare diseases, Ear diseases, Genetic diseases, Neuronal diseases, Blood diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Familial Deafness

MalaCards integrated aliases for Familial Deafness:

Name: Familial Deafness 50

Classifications:



Summaries for Familial Deafness

MalaCards based summary : Familial Deafness An important gene associated with Familial Deafness is JAG1 (Jagged 1). The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart.

Related Diseases for Familial Deafness

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Symptoms & Phenotypes for Familial Deafness

Drugs & Therapeutics for Familial Deafness

Drugs for Familial Deafness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3
4 Vaccines Phase 2, Phase 3
5
Bezafibrate Approved Phase 2 41859-67-0 39042
6 Antimetabolites Phase 2
7 Hypolipidemic Agents Phase 2
8 Lipid Regulating Agents Phase 2
9
Dopamine Approved 51-61-6, 62-31-7 681
10
Tadalafil Approved, Investigational 171596-29-5 110635
11
Silver sulfadiazine Approved, Vet_approved 22199-08-2 441244
12
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
13
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
14 Dopamine Agents
15
Serotonin 50-67-9 5202
16 Phosphodiesterase 5 Inhibitors
17 Phosphodiesterase Inhibitors
18 Vasodilator Agents
19 Bone Density Conservation Agents
20 Ergocalciferols
21 Micronutrients
22 Trace Elements
23 Vitamins
24 Calciferol Nutraceutical
25 Vitamin D2 Nutraceutical

Interventional clinical trials:

(show top 50) (show all 51)

id Name Status NCT ID Phase Drugs
1 Treating Hearing Loss to Improve Mood and Cognition in Older Adults Recruiting NCT03321006 Phase 4 Duloxetine
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 canakinumab
3 Evaluation of the Safety and Immune Responses of the Towne Strain of CMV in Seronegative Women Terminated NCT00201448 Phase 2, Phase 3
4 A Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
5 Quality Control of CE-Certified Phonak Hearing Aids - 2017_27 Completed NCT03253003
6 Quality Control of CE-Certified Phonak Hearing Aids - 2017_13 Completed NCT03131557
7 Hearing Instruments in Alzheimer's Disease Completed NCT02294513
8 Genetic Studies of Tone Deafness Completed NCT00006076
9 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
10 Genetic Study of Age Related Hearing Loss Completed NCT01732289 Early Phase 1
11 Genetic Study of Families Affected by Paget's Disease of Bone Completed NCT00747994
12 Pilot Study of Familial Nonsyndromal Mondini Dysplasia Completed NCT00004336
13 Genetic Factors Related to Stuttering Completed NCT00001602
14 Hereditary Deficits in Auditory Processing Leading to Language Impairment Completed NCT00004570
15 Molecular Genetics of Retinal Degenerations Completed NCT00231010
16 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
17 Project ASPIRE Efficacy Pilot: Achieving Superior Parental Involvement for Rehabilitative Excellence Completed NCT01753661
18 Post Marketing Observational Study in Patients With Pulmonary Arterial Hypertension Completed NCT01066845 tadalafil
19 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
20 Genetics of Middle Ear Disease Completed NCT00422136
21 Identifying Residential Hazards Using Home Test Kits Completed NCT00285532
22 The Framingham Study: Examining DNA Markers and Links to Diseases Completed NCT00062777
23 Studies of Children With Metabolic and Other Genetic Disorders Completed NCT00025870
24 Association Between Mother-Infant Attunement During Interaction and the Quality of General Movements Completed NCT01764958
25 Integrative Health Care Model for Climacteric Stage Women Completed NCT01272115
26 Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling Completed NCT00056186
27 Early Auditory Referral in Primary Care Recruiting NCT03004937
28 Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol Recruiting NCT00341874
29 Promoting Early Diagnosis of Congenital Hearing Loss With Patient Navigators Recruiting NCT01917747
30 Genetic Analysis of Hereditary Disorders of Hearing and Balance Recruiting NCT00023049
31 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
32 Reducing Childhood Hearing Loss in an Alaska Native Population Through a New School Screening and Referral Process That Utilizes Mobile Health and Telemedicine Recruiting NCT03309553
33 Cognition Effects of Hearing Aids and Auditory Training in Older Age Recruiting NCT03112850
34 Language Proficiency and Quality of Life After Receiving Cochlear Implantation as a Child Recruiting NCT01863875
35 Mechanisms of Health Literacy and Information Accessibility in the Deaf Recruiting NCT03093779
36 PEARLS Intervention Recruiting NCT03260062
37 Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing Recruiting NCT02558478
38 Genetic Linkage Studies of Stuttering Recruiting NCT00001604
39 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027
40 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
41 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
42 Imaging Genetics of Spasmodic Dysphonia Recruiting NCT03042975
43 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
44 An Evaluation of the Effect of Vitamin D Supplementation on the Cognitive Function of Older Subjects With Low Levels of This Vitamin Recruiting NCT02381600 Vitamin D
45 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
46 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
47 Assessing and Addressing Behaviors in Children With Hearing Loss Enrolling by invitation NCT02423746
48 Ambispective Clinical Evaluation of Sophono™ Enrolling by invitation NCT03143257
49 Examining the Impact of Physician Influence on Hearing Aid User Satisfaction and Retention Not yet recruiting NCT02842905
50 Prevalence of POU4F3 and SLC17A8 Mutations Terminated NCT01802190

Search NIH Clinical Center for Familial Deafness

Genetic Tests for Familial Deafness

Anatomical Context for Familial Deafness

MalaCards organs/tissues related to Familial Deafness:

39
Bone, Testes, Heart

Publications for Familial Deafness

Articles related to Familial Deafness:

id Title Authors Year
1
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal- growth-factor-like domain of Jagged 1. ( 12022040 )
2002
2
Familial deafness associated with iris degeneration and glaucoma. ( 9775264 )
1998
3
Familial deafness associated with iris degeneration and glaucoma. ( 9614546 )
1998
4
Familial deafness associated with iris degeneration and glaucoma. ( 9425410 )
1997
5
A study of dermatoglyphics and the simian crease in familial deafness. ( 5514155 )
1970
6
A cytogenetic study of familial deafness. ( 5345103 )
1969
7
A genetic study of familial deafness. ( 5365605 )
1969
8
Familial deafness and goitre in persons with a low serum level of protein-bound iodine: preliminary report. ( 13605752 )
1958

Variations for Familial Deafness

Expression for Familial Deafness

Search GEO for disease gene expression data for Familial Deafness.

Pathways for Familial Deafness

GO Terms for Familial Deafness

Sources for Familial Deafness

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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