MCID: DFN202
MIFTS: 39

Deafness, Autosomal Dominant 48

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

Aliases & Classifications for Deafness, Autosomal Dominant 48

MalaCards integrated aliases for Deafness, Autosomal Dominant 48:

Name: Deafness, Autosomal Dominant 48 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 48 12 14
Dfna48 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 71
Deafness Autosomal Dominant Due to Mutation in Myo1a 71
Deafness, Autosomal Dominant, 48 71
Autosomal Dominant Deafness 48 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset from first to third decades of life
variable penetrance
one report of a large italian family from sardinia (last curated december 2015)


HPO:

32
deafness, autosomal dominant 48:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 607841
Disease Ontology 12 DOID:0110571
ICD10 33 H90.3
MedGen 40 C1842939
MeSH 42 D006319
SNOMED-CT via HPO 65 263681008 60700002

Summaries for Deafness, Autosomal Dominant 48

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 48: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 48, also known as autosomal dominant nonsyndromic deafness 48, is related to dfna48 nonsyndromic hearing loss and deafness and seizures, cortical blindness, microcephaly syndrome, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 48 is DFNA48 (Deafness, Autosomal Dominant 48), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and nervous system

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has material basis in variation in the chromosome region 12q13-q14.

Description from OMIM: 607841

Related Diseases for Deafness, Autosomal Dominant 48

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

Diseases related to Deafness, Autosomal Dominant 48 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 dfna48 nonsyndromic hearing loss and deafness 11.9
2 seizures, cortical blindness, microcephaly syndrome 10.4 MYO1A MYO3A
3 usher syndrome type 1h 10.0 CIB2 MYO7A
4 congenital muscular dystrophy due to lmna mutation 9.9 MYH14 MYO7A
5 bifid nose with or without anorectal and renal anomalies 9.9 MYO15A MYO7A
6 nonsyndromic hydrocephalus, ccdc88c-related 9.9 MYO15A MYO6
7 ectodermal dysplasia 6, hair/nail type 9.8 MYO15A MYO7A
8 x-linked nonsyndromic deafness 9.7 MYH14 MYO6 MYO7A
9 cardiomyopathy, dilated, 1j 9.7 EYA1 MYH14
10 mixed lacrimal gland cancer 9.6 MYH9 MYO7A
11 narcissistic personality disorder 9.5 MYH9 MYO15A MYO7A
12 preterm premature rupture of the membranes 9.2 MYO15A MYO1A MYO6 MYO7A
13 deafness, autosomal dominant 11 9.2 MYO15A MYO1A MYO6 MYO7A
14 endometritis 9.0 MYH9 MYO15A MYO6 MYO7A
15 nodular lichen myxedematosus 8.9 MYH14 MYH9 MYO1A MYO6 MYO7A
16 discrete papular lichen myxedematosus 8.3 CIB2 MYH9 MYO15A MYO3A MYO6 MYO7A
17 deafness, autosomal recessive 37 8.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
18 ullrich congenital muscular dystrophy 2 8.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19 severe combined immunodeficiency, athabascan type 8.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
20 macrothrombocytopenia and progressive sensorineural deafness 8.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 autosomal recessive nonsyndromic deafness 8 8.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22 autosomal recessive nonsyndromic deafness 7.9 CIB2 MYH14 MYH9 MYO15A MYO3A MYO6
23 fundus albipunctatus 6.5 CIB2 DFNA48 EYA1 MYH14 MYH9 MYO15A

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 48:



Diseases related to Deafness, Autosomal Dominant 48

Symptoms & Phenotypes for Deafness, Autosomal Dominant 48

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, postlingual, slowly progressive, bilateral and symmetric (moderate to severe)


Clinical features from OMIM:

607841

Human phenotypes related to Deafness, Autosomal Dominant 48:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 48:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.76 CIB2 EYA1 MYH9 MYO15A MYO1A MYO3A
2 nervous system MP:0003631 9.56 MYH14 MYH9 MYO15A MYO3A MYO6 MYO7A
3 vision/eye MP:0005391 9.02 EYA1 MYH9 MYO15A MYO6 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Dominant 48

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 48

Genetic Tests for Deafness, Autosomal Dominant 48

Genetic tests related to Deafness, Autosomal Dominant 48:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 48 29

Anatomical Context for Deafness, Autosomal Dominant 48

MalaCards organs/tissues related to Deafness, Autosomal Dominant 48:

39
Brain

Publications for Deafness, Autosomal Dominant 48

Variations for Deafness, Autosomal Dominant 48

Expression for Deafness, Autosomal Dominant 48

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 48.

Pathways for Deafness, Autosomal Dominant 48

GO Terms for Deafness, Autosomal Dominant 48

Cellular components related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.63 MYH9 MYO6 MYO7A
2 photoreceptor outer segment GO:0001750 9.54 CIB2 MYO7A
3 microvillus GO:0005902 9.54 MYO1A MYO6 MYO7A
4 neuromuscular junction GO:0031594 9.52 CIB2 MYH9
5 stress fiber GO:0001725 9.51 MYH14 MYH9
6 brush border GO:0005903 9.5 MYH14 MYH9 MYO1A
7 photoreceptor inner segment GO:0001917 9.49 CIB2 MYO7A
8 actomyosin GO:0042641 9.43 MYH14 MYH9
9 myosin II complex GO:0016460 9.4 MYH14 MYH9
10 stereocilium GO:0032420 9.33 CIB2 MYO15A MYO7A
11 myosin II filament GO:0097513 9.26 MYH14 MYH9
12 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
13 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6
14 cytoplasm GO:0005737 10.13 CIB2 EYA1 MYH14 MYH9 MYO15A MYO1A

Biological processes related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.33 EYA1 MYO15A MYO7A
2 actomyosin structure organization GO:0031032 9.32 MYH14 MYH9
3 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
4 sensory perception of sound GO:0007605 9.17 EYA1 MYH14 MYO15A MYO1A MYO3A MYO6
5 cochlea morphogenesis GO:0090103 8.96 EYA1

Molecular functions related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.98 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2 actin filament binding GO:0051015 9.8 MYH14 MYH9 MYO1A MYO6 MYO7A
3 nucleotide binding GO:0000166 9.76 MYH14 MYH9 MYO3A MYO7A
4 actin binding GO:0003779 9.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5 ADP binding GO:0043531 9.67 MYH9 MYO3A MYO6 MYO7A
6 microfilament motor activity GO:0000146 9.62 MYH14 MYH9 MYO3A MYO7A
7 actin-dependent ATPase activity GO:0030898 9.56 MYH14 MYH9 MYO3A MYO7A
8 calmodulin binding GO:0005516 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9 motor activity GO:0003774 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

Sources for Deafness, Autosomal Dominant 48

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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