MCID: FML056
MIFTS: 14

Familial Deafness

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

Aliases & Classifications for Familial Deafness

MalaCards integrated aliases for Familial Deafness:

Name: Familial Deafness 20

Classifications:



Summaries for Familial Deafness

MalaCards based summary : Familial Deafness is related to long qt syndrome and branchiootic syndrome 1. An important gene associated with Familial Deafness is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include endothelial.

Wikipedia : 73 Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired... more...

Related Diseases for Familial Deafness

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Familial Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 10.9
2 branchiootic syndrome 1 10.4
3 intraocular pressure quantitative trait locus 10.0
4 goiter 9.9
5 alagille syndrome 1 9.7
6 tetralogy of fallot 9.7
7 tune deafness 9.7
8 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.7
9 pulmonic stenosis 9.7
10 pendred syndrome 9.7
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
12 deafness, congenital heart defects, and posterior embryotoxon 9.7
13 autosomal recessive disease 9.7
14 ventricular septal defect 9.7
15 heart septal defect 9.7
16 hypogonadism 9.7
17 waardenburg's syndrome 9.7

Graphical network of the top 20 diseases related to Familial Deafness:



Diseases related to Familial Deafness

Symptoms & Phenotypes for Familial Deafness

Drugs & Therapeutics for Familial Deafness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of POU4F3 (DFNA15) and SLC17A8 (DFNA25) Genes Mutations in Dominant Autosomal Deafness and Phenotypic Characterization of Carrier Patients. 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:

40
Endothelial

Publications for Familial Deafness

Articles related to Familial Deafness:

(show all 37)
# Title Authors PMID Year
1
Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness. 61
30881389 2019
2
Tricellular junctions: how to build junctions at the TRICkiest points of epithelial cells. 61
28705832 2017
3
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. 61
25557914 2015
4
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome. 61
25424868 2014
5
HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness. 61
24878468 2014
6
[Molecular organization of tricellular tight junctions]. 61
24790043 2014
7
Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 61
23239027 2013
8
Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India. 61
23120683 2010
9
TRPMLs: in sickness and in health. 61
19158345 2009
10
GJB2 gene mutations causing familial hereditary deafness in Turkey. 61
14643477 2003
11
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. 61
12022040 2002
12
[Pendred syndrome as a cause of familial deafness]. 61
10502702 1999
13
Anti-endothelial autoantibodies in patients with sudden hearing loss. 61
10401846 1999
14
[Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people]. 61
9765703 1998
15
Familial deafness associated with iris degeneration and glaucoma. 61
9775264 1998
16
Familial deafness associated with iris degeneration and glaucoma. 61
9614546 1998
17
Familial deafness associated with iris degeneration and glaucoma. 61
9425410 1997
18
[Non-syndromic familial deafness. Review and genetic study]. 61
8962727 1996
19
Mitochondrial DNA mutations in diseases of energy metabolism. 61
8077179 1994
20
[Familial deafness showing hearing pattern of low-tone losses]. 61
1880639 1991
21
[Fabry's disease. Rare etiology of a long-term inflammatory syndrome. Apropos of a case]. 61
3099372 1986
22
[Fahr syndrome associated with familial deafness (2 cases)]. 61
3739777 1986
23
Genetic disposition to deafness in maternal rubella: fact or myth? 61
4068090 1985
24
Congenital sensorineural deafness associated with EEG abnormalities, epilepsy and high familial incidence. 61
6418599 1983
25
Clinical results of hearing aid with noise-level-controlled selective amplification. 61
6651626 1983
26
The nerve deaf child--intrauterine rubella or not? 61
6859910 1983
27
The aetiology of partial deafness in childhood. 61
741324 1978
28
[Familial deafness and affectivity. Remarks concerning a case of Waardenburg's syndrome]. 61
601367 1977
29
[Association between hypogonadotrophic hypogonadism and familial deafness: a variation of Kallmann's syndrome?]. 61
1025272 1976
30
[Familial deafness with osteo-onycho-dysplasia]. 61
5516283 1970
31
A study of dermatoglyphics and the simian crease in familial deafness. 61
5514155 1970
32
A genetic study of familial deafness. 61
5365605 1969
33
A cytogenetic study of familial deafness. 61
5345103 1969
34
[FAMILIAL DEAFNESS IN A CHILD FOLLOWING RECURRENT PREGNANCY ICTERUS IN THE MOTHER]. 61
14272790 1965
35
Familial deafness and goitre in persons with a low serum level of protein-bound iodine: preliminary report. 61
13605752 1958
36
[A case of hereditary-familial deafness]. 61
13478948 1957
37
[Cervico-oculo-facial dysmorphia with familial deafness: Klippel-Feil, retractio bulbi, craniofacial asymetry and other congenital anomalies]. 61
14354171 1954

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