DFNA1
MCID: DFN131
MIFTS: 45

Deafness, Autosomal Dominant 1 (DFNA1)

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

Aliases & Classifications for Deafness, Autosomal Dominant 1

MalaCards integrated aliases for Deafness, Autosomal Dominant 1:

Name: Deafness, Autosomal Dominant 1 56 29 13 6 71
Konigsmark Syndrome 56 12 73
Dfna1 56 12 73
Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 56 73
Autosomal Dominant Nonsyndromic Deafness 1 12 15
Lfhl1 12 73
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome 58
Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome 58
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 73
Hereditary Low-Frequency Sensorineural Hearing Loss 73
Hereditary Low Frequency Hearing Loss 1 12
Hereditary Low-Frequency Hearing Loss 73
Deafness, Autosomal Dominant, 1 73
Autosomal Dominant Deafness 1 12
Lfsnhl1 73

Characteristics:

OMIM:

56
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:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0110541
OMIM 56 124900
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
Orphanet 58 ORPHA494444
MedGen 41 C1852282
UMLS 71 C1852282

Summaries for Deafness, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 73 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. 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 RhoGDI Pathway. Affiliated tissues include brain, and related phenotypes are thrombocytopenia and sensorineural hearing impairment

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 : 56 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 Rare 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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 31.4 WFS1 TECTA MYO7A GJB2 DIAPH1
2 nonsyndromic deafness 30.5 WFS1 MYO15A GJB2
3 branchiootic syndrome 1 30.0 TECTA PTPRQ MYO7A GJB2
4 nonsyndromic hearing loss 29.3 WFS1 TRIOBP TECTA MYO7A MYO3A MYO15A
5 autosomal dominant non-syndromic sensorineural deafness type dfna 29.2 WFS1 TECTA PTPRQ MYO7A MYH14 GJB2
6 deafness, conductive, with malformed external ear 11.5
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
8 deafness, autosomal recessive 18a 10.3 MYO7A MYO15A
9 dfnb1 10.3 MYO7A GJB2
10 deafness, autosomal recessive 63 10.3 MYO7A MYO15A
11 labyrinthitis 10.3 MYO7A GJB2
12 deafness, autosomal recessive 8 10.3 MYO15A GJB2
13 drug-induced hearing loss 10.2 MYO7A GJB2
14 deafness, autosomal dominant 67 10.2 GJB2 DIAPH1
15 cryptophthalmos, unilateral or bilateral, isolated 10.2 FMN1 DIAPH3
16 microcephaly 10.2
17 deafness, autosomal recessive 23 10.2 MYO7A MYO15A
18 deafness, autosomal recessive 42 10.2 TECTA PTPRQ
19 deafness, autosomal recessive 83 10.2 PTPRQ MYO7A MYO15A
20 usher syndrome, type if 10.2 MYO7A MYO15A
21 deafness, autosomal recessive 49 10.2 MYO15A GJB2
22 usher syndrome, type ic 10.2 MYO7A GJB2
23 deafness, autosomal dominant 21 10.1 TECTA MYH14
24 usher syndrome, type iic 10.1 PTPRQ MYO7A MYO15A
25 deafness, autosomal recessive 26 10.1 TECTA GJB2
26 deafness, autosomal dominant 9 10.1 WFS1 MYO7A GJB2
27 deafness, autosomal dominant 54 10.1 WFS1 MYH14 DIAPH1
28 deafness, autosomal recessive 3 10.1 MYO7A MYO15A GJB2
29 deafness, autosomal dominant 36 10.1 MYO15A GJB2
30 deafness, autosomal recessive 7 10.1 MYO7A MYO15A GJB2
31 deafness, autosomal recessive 25 10.1 TRIOBP MYO15A
32 deafness, autosomal dominant 64 10.1 MYH14 GJB2
33 deafness, autosomal recessive 29 10.1 TECTA GJB2
34 deafness, autosomal recessive 35 10.1 TRIOBP MYO15A
35 deafness, autosomal recessive 93 10.1 TRIOBP GJB2
36 vestibular disease 10.1 MYO7A MYO15A GJB2
37 deafness, autosomal dominant 2b 10.1 TRIOBP GJB2
38 pendred syndrome 10.0 MYO7A MYO15A GJB2
39 usher syndrome, type iia 10.0 MYO7A GJB2
40 deafness, autosomal recessive 16 10.0 PTPRQ MYO15A GJB2
41 deafness, autosomal dominant 31 10.0 TECTA MYO3A
42 deafness, autosomal dominant 2a 10.0 GJB2 ESPN
43 hereditary hearing loss and deafness 10.0 ESPN DIAPH1
44 peripheral vertigo 10.0 MYO7A GJB2
45 usher syndrome, type iid 10.0 MYO7A MYO15A ESPN
46 deafness, autosomal recessive 21 10.0 TECTA MYO15A GJB2
47 deafness, autosomal recessive 77 10.0 MYO3A GJB2
48 auditory neuropathy, autosomal dominant, 1 10.0 GJB2 FMN1 DIAPH3 DIAPH1
49 deafness, autosomal recessive 1a 9.9 MYO7A GJB2
50 deafness, autosomal recessive 39 9.9 TRIOBP PTPRQ GJB2

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

Human phenotypes related to Deafness, Autosomal Dominant 1:

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

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.81 ESPN GJB2 MYO15A MYO3A MYO7A PTPRQ
2 nervous system MP:0003631 9.7 DIAPH1 ESPN GJB2 MYH14 MYO15A MYO3A
3 no phenotypic analysis MP:0003012 9.17 DIAPH1 DIAPH3 FMN1 GJB2 MYH14 MYO7A

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 29 DIAPH1

Anatomical Context for Deafness, Autosomal Dominant 1

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

40
Brain

Publications for Deafness, Autosomal Dominant 1

Articles related to Deafness, Autosomal Dominant 1:

(show all 31)
# Title Authors PMID Year
1
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 61 56 6
27808407 2017
2
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 6 56 61
9360932 1997
3
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. 56 6
28815995 2017
4
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 6 56
26912466 2016
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
6
Genetic causes of hearing loss. 56
10760311 2000
7
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
8
The gene for an inherited form of deafness maps to chromosome 5q31. 56
1350680 1992
9
Inherited low-frequency hearing loss. A new mixed conductive/sensorineural entity? 56
6719015 1984
10
Low frequency hereditary deafness in man with childhood onset. 56
7211837 1981
11
Familial low frequency hearing loss. 56
5157378 1971
12
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family. 61
32087478 2020
13
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot. 61
30599039 2018
14
A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss. 61
28003573 2017
15
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. 61
27707755 2016
16
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 61
25759012 2015
17
Unique transgenic animal model for hereditary hearing loss. 61
19102128 2008
18
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
19
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. 61
16043233 2006
20
DFNA54, a third locus for low-frequency hearing loss. 61
15490091 2004
21
[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]. 61
14968315 2004
22
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. 61
12073007 2002
23
Auditory phenotype of DFNA1. 61
12408060 2002
24
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. 61
12181639 2002
25
Hereditary deafness and phenotyping in humans. 61
12324385 2002
26
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 61
11709537 2001
27
Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3. 61
11553051 2001
28
Non-syndromic dominant DFNA1. 61
10868215 2000
29
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. 61
10890148 1999
30
Further characterization of the DFNA1 audiovestibular phenotype. 61
9639482 1998
31
[Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss]. 61
8652029 1996

Variations for Deafness, Autosomal Dominant 1

ClinVar genetic disease variations for Deafness, Autosomal Dominant 1:

6 (show top 50) (show all 225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIAPH1 NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs)deletion Pathogenic 424874 rs1064797096 5:140903746-140903747 5:141524179-141524180
2 DIAPH1 NC_000005.10:g.(?_141516831)_(141618934_?)deldeletion Pathogenic 831117 5:140896398-140998501
3 DIAPH1 NM_005219.5(DIAPH1):c.3661+1G>TSNV Pathogenic 7528 5:140903709-140903709 5:141524142-141524142
4 DIAPH1 NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)SNV Pathogenic 228577 rs876657776 5:140903734-140903734 5:141524167-141524167
5 DIAPH1 NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)SNV Pathogenic 839955 5:140954626-140954626 5:141575059-141575059
6 DIAPH1 NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)SNV Likely pathogenic 828149 5:140908342-140908342 5:141528775-141528775
7 DIAPH1 NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)SNV Conflicting interpretations of pathogenicity 45216 rs201149420 5:140960448-140960448 5:141580881-141580881
8 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[8] (p.Pro618_Pro620del)short repeat Conflicting interpretations of pathogenicity 593399 rs3075570 5:140953564-140953572 5:141573997-141574005
9 DIAPH1 NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)SNV Conflicting interpretations of pathogenicity 542364 rs199749212 5:140953193-140953193 5:141573626-141573626
10 DIAPH1 NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=)SNV Conflicting interpretations of pathogenicity 796837 5:140896460-140896460 5:141516893-141516893
11 DIAPH1 NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)SNV Conflicting interpretations of pathogenicity 450432 rs200606811 5:140953259-140953259 5:141573692-141573692
12 DIAPH1 NM_005219.4(DIAPH1):c.3439-3deldeletion Conflicting interpretations of pathogenicity 475707 rs1335130331 5:140905743-140905743 5:141526176-141526176
13 DIAPH1 NM_005219.5(DIAPH1):c.969A>G (p.Thr323=)SNV Conflicting interpretations of pathogenicity 542369 rs369453319 5:140958157-140958157 5:141578590-141578590
14 DIAPH1 NM_005219.5(DIAPH1):c.579C>T (p.Asp193=)SNV Conflicting interpretations of pathogenicity 542372 rs202061556 5:140962814-140962814 5:141583247-141583247
15 DIAPH1 NM_005219.5(DIAPH1):c.-22G>TSNV Conflicting interpretations of pathogenicity 351307 rs530831319 5:140998503-140998503 5:141618936-141618936
16 DIAPH1 NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=)SNV Conflicting interpretations of pathogenicity 351302 rs369494682 5:140961936-140961936 5:141582369-141582369
17 DIAPH1 NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=)SNV Conflicting interpretations of pathogenicity 179391 rs727504838 5:140908069-140908069 5:141528502-141528502
18 DIAPH1 NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)SNV Conflicting interpretations of pathogenicity 194639 rs182139018 5:140953681-140953681 5:141574114-141574114
19 DIAPH1 NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)SNV Conflicting interpretations of pathogenicity 351296 rs193036129 5:140955835-140955835 5:141576268-141576268
20 DIAPH1 NM_005219.5(DIAPH1):c.685-5A>GSNV Conflicting interpretations of pathogenicity 228578 rs367786290 5:140960455-140960455 5:141580888-141580888
21 DIAPH1 NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)SNV Conflicting interpretations of pathogenicity 227300 rs189809247 5:140953648-140953648 5:141574081-141574081
22 DIAPH1 NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)SNV Conflicting interpretations of pathogenicity 582965 rs779376542 5:140908745-140908745 5:141529178-141529178
23 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[9] (p.Pro619_Pro620del)short repeat Conflicting interpretations of pathogenicity 351294 rs3075570 5:140953564-140953569 5:141573997-141574002
24 DIAPH1 NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)SNV Uncertain significance 578663 rs200394036 5:140907238-140907238 5:141527671-141527671
25 DIAPH1 NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)SNV Uncertain significance 578439 rs747116749 5:140905693-140905693 5:141526126-141526126
26 DIAPH1 NM_005219.5(DIAPH1):c.-27G>TSNV Uncertain significance 351308 rs749524827 5:140998508-140998508 5:141618941-141618941
27 DIAPH1 NM_005219.5(DIAPH1):c.300+12A>GSNV Uncertain significance 351305 rs201535699 5:140966597-140966597 5:141587030-141587030
28 DIAPH1 NM_005219.5(DIAPH1):c.*1544A>GSNV Uncertain significance 351261 rs886060025 5:140894874-140894874 5:141515307-141515307
29 DIAPH1 NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)SNV Uncertain significance 228575 rs201433617 5:140953310-140953310 5:141573743-141573743
30 DIAPH1 NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg)SNV Uncertain significance 854270 5:140954574-140954574 5:141575007-141575007
31 DIAPH1 NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu)SNV Uncertain significance 855944 5:140953582-140953582 5:141574015-141574015
32 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[15] (p.Pro617_Pro620dup)short repeat Uncertain significance 840731 5:140953563-140953564 5:141573996-141573997
33 DIAPH1 NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)SNV Uncertain significance 844136 5:140953454-140953454 5:141573887-141573887
34 DIAPH1 NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)SNV Uncertain significance 850652 5:140953387-140953387 5:141573820-141573820
35 DIAPH1 NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)SNV Uncertain significance 842455 5:140953346-140953346 5:141573779-141573779
36 DIAPH1 NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)SNV Uncertain significance 836519 5:140953309-140953309 5:141573742-141573742
37 DIAPH1 NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)SNV Uncertain significance 835713 5:140951565-140951565 5:141571998-141571998
38 DIAPH1 NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)SNV Uncertain significance 854716 5:140908145-140908145 5:141528578-141528578
39 DIAPH1 NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys)SNV Uncertain significance 854885 5:140906010-140906010 5:141526443-141526443
40 DIAPH1 NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln)SNV Uncertain significance 855139 5:140903733-140903733 5:141524166-141524166
41 DIAPH1 NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)SNV Uncertain significance 862223 5:140896560-140896560 5:141516993-141516993
42 DIAPH1 NM_005219.5(DIAPH1):c.*332T>GSNV Uncertain significance 907313 5:140896086-140896086 5:141516519-141516519
43 DIAPH1 NM_005219.5(DIAPH1):c.*521G>ASNV Uncertain significance 907312 5:140895897-140895897 5:141516330-141516330
44 DIAPH1 NM_005219.5(DIAPH1):c.*644C>TSNV Uncertain significance 907311 5:140895774-140895774 5:141516207-141516207
45 DIAPH1 NM_005219.5(DIAPH1):c.*724C>TSNV Uncertain significance 906299 5:140895694-140895694 5:141516127-141516127
46 DIAPH1 NM_005219.5(DIAPH1):c.*811A>CSNV Uncertain significance 906298 5:140895607-140895607 5:141516040-141516040
47 DIAPH1 NM_005219.5(DIAPH1):c.*867G>ASNV Uncertain significance 906297 5:140895551-140895551 5:141515984-141515984
48 DIAPH1 NM_005219.5(DIAPH1):c.*870G>ASNV Uncertain significance 906296 5:140895548-140895548 5:141515981-141515981
49 DIAPH1 NM_005219.5(DIAPH1):c.*1309A>TSNV Uncertain significance 905790 5:140895109-140895109 5:141515542-141515542
50 DIAPH1 NM_005219.5(DIAPH1):c.*1533C>TSNV Uncertain significance 903903 5:140894885-140894885 5:141515318-141515318

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

73
# Symbol AA change Variation ID SNP ID
1 DIAPH1 p.Pro678Ser VAR_079874 rs186370335

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
11.93 MYO7A MYO3A MYO15A MYH14 DIAPH3 DIAPH1
2
Show member pathways
11.84 MYO7A MYO3A MYO15A MYH14
3 10.8 MYO7A MYO3A MYO15A MYH14

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 cytoskeleton GO:0005856 9.87 TRIOBP MYO7A MYO3A MYO15A ESPN DIAPH1
2 actin cytoskeleton GO:0015629 9.67 TRIOBP MYO7A MYO15A ESPN
3 stereocilium tip GO:0032426 9.4 MYO3A ESPN
4 stereocilium bundle GO:0032421 9.33 PTPRQ MYO15A ESPN
5 stereocilium base GO:0120044 9.26 TPRN MYO7A
6 myosin complex GO:0016459 9.26 MYO7A MYO3A MYO15A MYH14
7 stereocilium GO:0032420 9.02 TPRN MYO7A MYO3A MYO15A ESPN

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

# Name GO ID Score Top Affiliating Genes
1 actin filament polymerization GO:0030041 9.46 DIAPH3 DIAPH1
2 actin filament organization GO:0007015 9.46 TRIOBP MYO7A MYO15A DIAPH1
3 positive regulation of filopodium assembly GO:0051491 9.43 PLPPR5 ESPN
4 inner ear morphogenesis GO:0042472 9.43 PTPRQ MYO7A MYO15A
5 actin filament-based movement GO:0030048 9.4 MYO7A MYH14
6 vesicle transport along actin filament GO:0030050 9.37 MYO7A MYO15A
7 sensory perception of sound GO:0007605 9.36 WFS1 TRIOBP TPRN TECTA MYO7A MYO3A
8 cellular component organization GO:0016043 9.32 DIAPH3 DIAPH1
9 auditory receptor cell stereocilium organization GO:0060088 9.13 TRIOBP TPRN MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.72 TRIOBP MYO7A MYO15A MYH14 ESPN
2 motor activity GO:0003774 9.67 MYO7A MYO3A MYO15A MYH14
3 calmodulin binding GO:0005516 9.65 WFS1 MYO7A MYO3A MYO15A MYH14
4 microfilament motor activity GO:0000146 9.46 MYO7A MYO3A MYO15A MYH14
5 actin binding GO:0003779 9.28 TRIOBP MYO7A MYO3A MYO15A MYH14 FMN1
6 actin-dependent ATPase activity GO:0030898 9.26 MYO7A MYO3A MYO15A MYH14

Sources for Deafness, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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