MCID: DFN202
MIFTS: 41

Deafness, Autosomal Dominant 48

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

Aliases & Classifications for Deafness, Autosomal Dominant 48

MalaCards integrated aliases for Deafness, Autosomal Dominant 48:

Name: Deafness, Autosomal Dominant 48 53 28 13 69
Dfna48 53 12 71
Autosomal Dominant Nonsyndromic Deafness 48 12 14
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:

53
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:

31
deafness, autosomal dominant 48:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 607841
Disease Ontology 12 DOID:0110571
ICD10 32 H90.3
MedGen 39 C1842939
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008 60700002
UMLS 69 C1842939

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 dfna48, is related to autosomal dominant nonsyndromic deafness and deafness, autosomal dominant 1, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 48 is MYO1A (Myosin IA), and among its related pathways/superpathways are ERK Signaling and PAK 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 Dominant 1 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 28.9 DFNA48 EYA1 MYH14 MYH9 MYO1A MYO6
2 deafness, autosomal dominant 1 10.2 MYO1A MYO3A
3 branchiootic syndrome 1 10.1
4 deafness, autosomal dominant 6 10.0 MYH14 MYO7A
5 deafness, autosomal recessive 3 9.9 MYO15A MYO7A
6 deafness, autosomal recessive 85 9.9 MYO15A MYO7A
7 deafness, autosomal recessive 83 9.9 MYO15A MYO7A
8 non-syndromic genetic deafness 9.9 MYO15A MYO6
9 inner ear disease 9.8 MYH9 MYO7A
10 deafness, autosomal dominant 10 9.7 EYA1 MYH14
11 usher syndrome type 2 9.7 CIB2 MYO7A
12 auditory system disease 9.6 MYH9 MYO15A MYO7A
13 deafness, autosomal dominant 11 9.4 MYO15A MYO1A MYO6 MYO7A
14 deafness, autosomal recessive 2 9.4 MYO15A MYO1A MYO6 MYO7A
15 sensorineural hearing loss 9.2 MYH9 MYO15A MYO6 MYO7A
16 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 MYH14 MYH9 MYO1A MYO6 MYO7A
17 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.7 CIB2 MYH9 MYO15A MYO3A MYO6 MYO7A
18 deafness, autosomal dominant 17 8.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19 deafness, autosomal dominant 22 8.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
20 deafness, autosomal recessive 30 8.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 deafness, autosomal recessive 37 8.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22 autosomal recessive nonsyndromic deafness 3 8.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
23 nonsyndromic deafness 8.2 CIB2 MYH14 MYH9 MYO15A MYO1A MYO3A

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 48:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.76 EYA1 MYH9 MYO15A MYO1A MYO3A MYO6
2 nervous system MP:0003631 9.56 CIB2 EYA1 MYH14 MYH9 MYO15A MYO3A
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:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 48 28 MYO1A

Anatomical Context for Deafness, Autosomal Dominant 48

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

38
Brain

Publications for Deafness, Autosomal Dominant 48

Articles related to Deafness, Autosomal Dominant 48:

# Title Authors Year
1
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness. ( 24616153 )
2014
2
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. ( 12596055 )
2003

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 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 CIB2 MYO15A MYO3A MYO6
2 cell cortex GO:0005938 9.63 MYH9 MYO6 MYO7A
3 photoreceptor outer segment GO:0001750 9.54 CIB2 MYO7A
4 microvillus GO:0005902 9.54 MYO1A MYO6 MYO7A
5 stress fiber GO:0001725 9.52 MYH14 MYH9
6 neuromuscular junction GO:0031594 9.51 CIB2 MYH9
7 brush border GO:0005903 9.5 MYH14 MYH9 MYO1A
8 photoreceptor inner segment GO:0001917 9.49 CIB2 MYO7A
9 actomyosin GO:0042641 9.43 MYH14 MYH9
10 myosin II complex GO:0016460 9.4 MYH14 MYH9
11 filamentous actin GO:0031941 9.33 MYO1A MYO3A MYO6
12 myosin II filament GO:0097513 9.26 MYH14 MYH9
13 stereocilium GO:0032420 9.26 CIB2 MYO15A MYO3A MYO7A
14 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
15 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:

# 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 cochlea morphogenesis GO:0090103 9.26 EYA1 MYO3A
4 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
5 sensory perception of sound GO:0007605 9.17 EYA1 MYH14 MYO15A MYO1A MYO3A MYO6

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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