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DFNA48
MCID: DFN202
MIFTS: 40

Deafness, Autosomal Dominant 48 (DFNA48)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Dominant 48

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MalaCards integrated aliases for Deafness, Autosomal Dominant 48:

Name: Deafness, Autosomal Dominant 48 57 29 13 6 73
Dfna48 57 12 75
Autosomal Dominant Nonsyndromic Deafness 48 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 75
Deafness Autosomal Dominant Due to Mutation in Myo1a 75
Deafness, Autosomal Dominant, Type 48 40
Deafness, Autosomal Dominant, 48 75
Autosomal Dominant Deafness 48 12

Characteristics:

OMIM:

57
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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 607841
Disease Ontology 12 DOID:0110571
ICD10 33 H90.3
MedGen 42 C1842939
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C1842939
Sources

Summaries for Deafness, Autosomal Dominant 48

About this section
UniProtKB/Swiss-Prot : 75 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. 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 sensorineural hearing impairment and hearing/vestibular/ear

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
Sources

Related Diseases for Deafness, Autosomal Dominant 48

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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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 30.4 DFNA48 EYA1 MYH14 MYH9 MYO1A MYO6
2 deafness, autosomal dominant 1 10.2 MYO1A MYO3A
3 deafness, autosomal dominant 6 10.0 MYH14 MYO7A
4 deafness, autosomal recessive 3 10.0 MYO15A MYO7A
5 deafness, autosomal recessive 85 10.0 MYO15A MYO7A
6 deafness, autosomal recessive 83 10.0 MYO15A MYO7A
7 usher syndrome, type ic 10.0 MYO15A MYO7A
8 deafness, autosomal recessive 9.9 CIB2 MYO3A MYO6
9 usher syndrome type 2 9.9 CIB2 MYO7A
10 inner ear disease 9.9 MYH9 MYO7A
11 deafness, autosomal dominant 10 9.9 EYA1 MYH14
12 branchiootic syndrome 1 9.8 EYA1 MYO7A
13 deafness, autosomal dominant 11 9.8 MYO15A MYO6 MYO7A
14 auditory system disease 9.8 MYH9 MYO15A MYO7A
15 non-syndromic genetic deafness 9.8 MYH9 MYO15A MYO6
16 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 EYA1 MYO7A
17 deafness, autosomal recessive 2 9.7 MYO15A MYO1A MYO6 MYO7A
18 sensorineural hearing loss 9.5 MYH14 MYH9 MYO15A MYO6 MYO7A
19 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 CIB2 MYH9 MYO15A MYO3A MYO6 MYO7A
20 deafness, autosomal dominant 17 9.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 deafness, autosomal dominant 22 9.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22 deafness, autosomal recessive 30 9.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
23 deafness, autosomal recessive 37 9.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
24 autosomal recessive nonsyndromic deafness 3 9.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
25 nonsyndromic deafness 9.1 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
Sources

Symptoms & Phenotypes for Deafness, Autosomal Dominant 48

About this section

Symptoms via clinical synopsis from OMIM:

57
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
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 48:

46
# 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 CIB2 EYA1 MYH14 MYH9 MYO15A MYO3A
3 vision/eye MP:0005391 9.1 CIB2 EYA1 MYH9 MYO15A MYO6 MYO7A
Sources

Drugs & Therapeutics for Deafness, Autosomal Dominant 48

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

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Genetic Tests for Deafness, Autosomal Dominant 48

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Genetic tests related to Deafness, Autosomal Dominant 48:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 48 29
Sources

Anatomical Context for Deafness, Autosomal Dominant 48

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

41
Brain
Sources

Publications for Deafness, Autosomal Dominant 48

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Variations for Deafness, Autosomal Dominant 48

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ClinVar genetic disease variations for Deafness, Autosomal Dominant 48:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO1A NM_005379.3(MYO1A): c.277C> T (p.Arg93Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121909305 GRCh37 Chromosome 12, 57441459: 57441459
2 MYO1A NM_005379.3(MYO1A): c.277C> T (p.Arg93Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121909305 GRCh38 Chromosome 12, 57047675: 57047675
3 MYO1A NM_005379.3(MYO1A): c.347_349dupCTT (p.Ser116_Tyr117insSer) duplication Uncertain significance rs864309476 GRCh38 Chromosome 12, 57047384: 57047386
4 MYO1A NM_005379.3(MYO1A): c.347_349dupCTT (p.Ser116_Tyr117insSer) duplication Uncertain significance rs864309476 GRCh37 Chromosome 12, 57441168: 57441170
5 MYO1A NM_005379.3(MYO1A): c.916G> A (p.Val306Met) single nucleotide variant Conflicting interpretations of pathogenicity rs55679042 GRCh37 Chromosome 12, 57437119: 57437119
6 MYO1A NM_005379.3(MYO1A): c.916G> A (p.Val306Met) single nucleotide variant Conflicting interpretations of pathogenicity rs55679042 GRCh38 Chromosome 12, 57043335: 57043335
7 MYO1A NM_005379.3(MYO1A): c.1155G> T (p.Glu385Asp) single nucleotide variant Uncertain significance rs61753849 GRCh37 Chromosome 12, 57435225: 57435225
8 MYO1A NM_005379.3(MYO1A): c.1155G> T (p.Glu385Asp) single nucleotide variant Uncertain significance rs61753849 GRCh38 Chromosome 12, 57041441: 57041441
9 MYO1A NM_005379.3(MYO1A): c.1985G> A (p.Gly662Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs33962952 GRCh37 Chromosome 12, 57431402: 57431402
10 MYO1A NM_005379.3(MYO1A): c.1985G> A (p.Gly662Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs33962952 GRCh38 Chromosome 12, 57037618: 57037618
11 MYO1A NM_005379.3(MYO1A): c.2728T> C (p.Ser910Pro) single nucleotide variant Uncertain significance rs121909306 GRCh37 Chromosome 12, 57423368: 57423368
12 MYO1A NM_005379.3(MYO1A): c.2728T> C (p.Ser910Pro) single nucleotide variant Uncertain significance rs121909306 GRCh38 Chromosome 12, 57029584: 57029584
13 MYO1A NM_005379.3(MYO1A): c.1882C> G (p.Arg628Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151187460 GRCh37 Chromosome 12, 57431732: 57431732
14 MYO1A NM_005379.3(MYO1A): c.1882C> G (p.Arg628Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151187460 GRCh38 Chromosome 12, 57037948: 57037948
15 MYO1A NM_005379.3(MYO1A): c.1011+2T> G single nucleotide variant Likely benign rs875989945 GRCh38 Chromosome 12, 57043238: 57043238
16 MYO1A NM_005379.3(MYO1A): c.2021G> A (p.Gly674Asp) single nucleotide variant Likely benign rs148808080 GRCh37 Chromosome 12, 57431366: 57431366
17 MYO1A NM_005379.3(MYO1A): c.2021G> A (p.Gly674Asp) single nucleotide variant Likely benign rs148808080 GRCh38 Chromosome 12, 57037582: 57037582
18 MYO1A NM_005379.3(MYO1A): c.1011+2T> G single nucleotide variant Likely benign rs875989945 GRCh37 Chromosome 12, 57437022: 57437022
19 MYO1A NM_005379.3(MYO1A): c.640+1G> C single nucleotide variant Likely benign rs199924915 GRCh37 Chromosome 12, 57440335: 57440335
20 MYO1A NM_005379.3(MYO1A): c.640+1G> C single nucleotide variant Likely benign rs199924915 GRCh38 Chromosome 12, 57046551: 57046551
21 MYO1A NM_005379.3(MYO1A): c.235G> T (p.Ala79Ser) single nucleotide variant Likely benign rs147101055 GRCh37 Chromosome 12, 57441501: 57441501
22 MYO1A NM_005379.3(MYO1A): c.235G> T (p.Ala79Ser) single nucleotide variant Likely benign rs147101055 GRCh38 Chromosome 12, 57047717: 57047717
Sources

Expression for Deafness, Autosomal Dominant 48

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.49 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2
Integrin Pathway 64
Show member pathways
 13.14 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3
PAK Pathway 64
Show member pathways
 13.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4
Sweet Taste Signaling 64
Show member pathways
 12.84 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5
Actin Nucleation by ARP-WASP Complex 64
Show member pathways
 12.75 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
6
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.65 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7
Cytoskeletal Signaling 4
12.16 MYH14 MYH9 MYO6
8
RhoGDI Pathway 64
Show member pathways
 12.08 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.9 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
10
Cytoskeleton remodeling_RalA regulation pathway 22
11.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11
Cytoskeleton remodeling_RalB regulation pathway 22
10.31 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
Sources

GO Terms for Deafness, Autosomal Dominant 48

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.84 CIB2 MYO15A MYO3A MYO6
2 cell cortex GO:0005938 9.63 MYH9 MYO6 MYO7A
3 microvillus GO:0005902 9.54 MYO1A MYO6 MYO7A
4 photoreceptor outer segment GO:0001750 9.52 CIB2 MYO7A
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 filamentous actin GO:0031941 9.33 MYO1A MYO3A MYO6
11 myosin II filament GO:0097513 9.26 MYH14 MYH9
12 stereocilium GO:0032420 9.26 CIB2 MYO15A MYO3A MYO7A
13 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A 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:

# 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

Sources for Deafness, Autosomal Dominant 48

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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