MCID: DFN131
MIFTS: 38

Deafness, Autosomal Dominant 1

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

Aliases & Classifications for Deafness, Autosomal Dominant 1

MalaCards integrated aliases for Deafness, Autosomal Dominant 1:

Name: Deafness, Autosomal Dominant 1 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 1 12 14
Konigsmark Syndrome 12 71
Dfna1 12 71
Lfhl1 12 71
Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 71
Hereditary Low-Frequency Sensorineural Hearing Loss 71
Hereditary Low Frequency Hearing Loss 1 12
Hereditary Low-Frequency Hearing Loss 71
Deafness, Autosomal Dominant, 1 71
Autosomal Dominant Deafness 1 12
Lfsnhl1 71

Characteristics:

OMIM:

54
Miscellaneous:
thrombocytopenia is most often asymptomatic and an incidental finding
rapidly progressive hearing loss
onset of deafness in the first decade

Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 1:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 54 124900
Disease Ontology 12 DOID:0110541
ICD10 33 H90.3
MedGen 40 C1852282
MeSH 42 D006319
SNOMED-CT via HPO 65 263681008 60700002 42538001

Summaries for Deafness, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 1: 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. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.

MalaCards based summary : Deafness, Autosomal Dominant 1, also known as autosomal dominant nonsyndromic deafness 1, is related to deafness, conductive, with malformed external ear and deafness, autosomal dominant 6/14/38, and has symptoms including sensorineural hearing impairment, progressive hearing impairment and low-frequency hearing loss. An important gene associated with Deafness, Autosomal Dominant 1 is DIAPH1 (Diaphanous Related Formin 1), and among its related pathways/superpathways is Actin Nucleation by ARP-WASP Complex. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has material basis in mutation in the DIAPH1 gene on chromosome 5q31.

OMIM : 54
DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients may have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017). (124900)

Related Diseases for Deafness, Autosomal Dominant 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 deafness, conductive, with malformed external ear 10.9
2 deafness, autosomal dominant 6/14/38 10.8
3 dfna 1 nonsyndromic hearing loss and deafness 10.8
4 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.1 DIAPH1 OSBPL2
5 nonsyndromic deafness 9.9
6 fundus albipunctatus 9.7 MYO1A MYO3A
7 deafness, autosomal recessive 37 9.6 MYO1A MYO3A
8 ullrich congenital muscular dystrophy 2 9.6 MYO1A MYO3A
9 macrothrombocytopenia and progressive sensorineural deafness 9.5 MYO1A MYO3A
10 autosomal recessive nonsyndromic deafness 8 9.5 MYO1A MYO3A
11 congenital muscular dystrophy due to lmna mutation 9.5 DIAPH1 WFS1
12 autosomal recessive nonsyndromic deafness 9.4 DIAPH1 MYO3A WFS1
13 severe combined immunodeficiency, athabascan type 9.4 MYO1A MYO3A
14 nodular lichen myxedematosus 8.6 DIAPH1 MYO1A OSBPL2 WFS1
15 seizures, cortical blindness, microcephaly syndrome 8.1 DIAPH1 MYO1A MYO3A OSBPL2 WFS1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 1:



Diseases related to Deafness, Autosomal Dominant 1

Symptoms & Phenotypes for Deafness, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

54

Hematology:
increased bleeding tendency (in some patients)
enlarged platelets (in some patients)
thrombocytopenia (in some patients)

Head And Neck- Ears:
hearing loss, sensorineural (affecting all frequencies)


Clinical features from OMIM:

124900

Human phenotypes related to Deafness, Autosomal Dominant 1:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 progressive hearing impairment 32 HP:0001730
3 low-frequency hearing loss 32 HP:0008542

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.47 MYO1A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.47 MYO1A MYO3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.47 MYO3A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.47 MYO1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.47 MYO3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.47 MYO1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.47 MYO1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 MYO1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.47 MYO1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.47 MYO1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.47 MYO1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 MYO3A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 MYO3A
14 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 8.96 MYO3A DIAPH1

Drugs & Therapeutics for Deafness, Autosomal Dominant 1

Drugs for Deafness, Autosomal Dominant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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
2 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
3 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
4 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 1

Genetic Tests for Deafness, Autosomal Dominant 1

Genetic tests related to Deafness, Autosomal Dominant 1:

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

Anatomical Context for Deafness, Autosomal Dominant 1

MalaCards organs/tissues related to Deafness, Autosomal Dominant 1:

39
Brain

Publications for Deafness, Autosomal Dominant 1

Variations for Deafness, Autosomal Dominant 1

ClinVar genetic disease variations for Deafness, Autosomal Dominant 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DIAPH1 DIAPH1, IVS17DS, G-T, +1 single nucleotide variant Pathogenic
2 DIAPH1 NM_005219.4(DIAPH1): c.3624_3625delAG (p.Ala1210Serfs) deletion Pathogenic rs1064797096 GRCh38 Chromosome 5, 141524179: 141524180

Expression for Deafness, Autosomal Dominant 1

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 1.

Pathways for Deafness, Autosomal Dominant 1

Pathways related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 DIAPH1 MYO1A MYO3A

GO Terms for Deafness, Autosomal Dominant 1

Cellular components related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYO1A MYO3A
2 filamentous actin GO:0031941 8.62 MYO1A MYO3A

Biological processes related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.96 MYO3A WFS1
2 sensory perception of sound GO:0007605 8.92 DIAPH1 MYO1A MYO3A WFS1

Molecular functions related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.16 MYO1A MYO3A
2 actin binding GO:0003779 9.13 DIAPH1 MYO1A MYO3A
3 calmodulin binding GO:0005516 8.8 MYO1A MYO3A WFS1

Sources for Deafness, Autosomal Dominant 1

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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