MCID: DFN131
MIFTS: 36

Deafness, Autosomal Dominant 1

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

Aliases & Classifications for Deafness, Autosomal Dominant 1

MalaCards integrated aliases for Deafness, Autosomal Dominant 1:

Name: Deafness, Autosomal Dominant 1 53 28 13 69
Konigsmark Syndrome 53 12 71
Dfna1 53 12 71
Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 53 71
Autosomal Dominant Nonsyndromic Deafness 1 12 14
Lfhl1 12 71
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome 55
Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome 55
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:

53
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 1:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 53 124900
Disease Ontology 12 DOID:0110541
ICD10 32 H90.3
Orphanet 55 ORPHA494444
MedGen 39 C1852282
MeSH 41 D006319
UMLS 69 C1852282

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 konigsmark syndrome, is related to deafness, autosomal dominant 6 and nonsyndromic deafness, and has symptoms including sensorineural hearing impairment, thrombocytopenia and progressive hearing impairment. An important gene associated with Deafness, Autosomal Dominant 1 is DIAPH1 (Diaphanous Related Formin 1), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 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)

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.

Related Diseases for Deafness, Autosomal Dominant 1

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 30.8 DIAPH1 WFS1
2 nonsyndromic deafness 28.3 DIAPH1 MYO1A MYO3A WFS1
3 deafness, conductive, with malformed external ear 11.2
4 deafness, autosomal dominant 67 10.0 DIAPH1 OSBPL2
5 branchiootic syndrome 1 9.9
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
7 deafness, autosomal dominant 48 9.7 MYO1A MYO3A
8 deafness, autosomal dominant 22 9.7 MYO1A MYO3A
9 deafness, autosomal recessive 37 9.7 MYO1A MYO3A
10 deafness, autosomal dominant 17 9.6 MYO1A MYO3A
11 deafness, autosomal recessive 30 9.6 MYO1A MYO3A
12 autosomal recessive nonsyndromic deafness 3 9.5 MYO1A MYO3A
13 autosomal dominant non-syndromic sensorineural deafness type dfna 9.3 MYO1A OSBPL2 WFS1
14 autosomal dominant nonsyndromic deafness 9.0 DIAPH1 MYO1A 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:

53
Head And Neck Ears:
hearing loss, sensorineural (affecting all frequencies)

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


Clinical features from OMIM:

124900

Human phenotypes related to Deafness, Autosomal Dominant 1:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 thrombocytopenia 31 occasional (7.5%) HP:0001873
3 progressive hearing impairment 31 HP:0001730
4 low-frequency hearing loss 31 HP:0008542

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

25 (show all 14)
# 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

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 1

Genetic Tests for Deafness, Autosomal Dominant 1

Genetic tests related to Deafness, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 1 28 DIAPH1

Anatomical Context for Deafness, Autosomal Dominant 1

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

38
Brain

Publications for Deafness, Autosomal Dominant 1

Articles related to Deafness, Autosomal Dominant 1:

# Title Authors Year
1
Extension of the clinical and molecular phenotype of DIAPH1- associated autosomal dominant hearing loss (DFNA1). ( 27808407 )
2017
2
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. ( 9360932 )
1997

Variations for Deafness, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 1:

71
# Symbol AA change Variation ID SNP ID
1 DIAPH1 p.Pro678Ser VAR_079874 rs186370335

ClinVar genetic disease variations for Deafness, Autosomal Dominant 1:

6
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 DIAPH1 MYO1A MYO3A
2
Show member pathways
10.9 DIAPH1 MYO1A MYO3A

GO Terms for Deafness, Autosomal Dominant 1

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

# 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:

# 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:

# 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
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
Content
Loading form....