DFNA7
MCID: DFN163
MIFTS: 31

Deafness, Autosomal Dominant 7 (DFNA7)

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

Aliases & Classifications for Deafness, Autosomal Dominant 7

MalaCards integrated aliases for Deafness, Autosomal Dominant 7:

Name: Deafness, Autosomal Dominant 7 56 13 6 71
Dfna7 56 12 73
Autosomal Dominant Nonsyndromic Deafness 7 12 15
Deafness, Autosomal Dominant, 7 73
Autosomal Dominant Deafness 7 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
highly variable age at onset and severity
age at onset ranges from congenital to mid-adulthood
two unrelated dutch families with confirmed mutations have been reported (last curated february 2020)


HPO:

31
deafness, autosomal dominant 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110591
OMIM 56 601412
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1832379
SNOMED-CT via HPO 68 232326009 263681008 48758008
UMLS 71 C1832379

Summaries for Deafness, Autosomal Dominant 7

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 7: 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. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood.

MalaCards based summary : Deafness, Autosomal Dominant 7, also known as dfna7, is related to deafness, autosomal dominant 49 and charcot-marie-tooth disease, demyelinating, type 1b. An important gene associated with Deafness, Autosomal Dominant 7 is LMX1A (LIM Homeobox Transcription Factor 1 Alpha). Affiliated tissues include brain, and related phenotypes are high-frequency hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.

OMIM : 56 Autosomal dominant deafness-7 (DFNA7) is a form of progressive sensorineural hearing loss with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. Some patients may have associated vertigo (summary by Wesdorp et al., 2018). (601412)

Related Diseases for Deafness, Autosomal Dominant 7

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 49 29.7 TECTA MPZ KCNJ9
2 charcot-marie-tooth disease, demyelinating, type 1b 10.1
3 deafness, autosomal dominant 4a 10.1
4 deafness, autosomal dominant 6 10.1
5 branchiootic syndrome 1 10.1
6 deafness, autosomal dominant 16 10.1
7 deafness, autosomal dominant 20 10.1
8 deafness, autosomal dominant 21 10.1
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
10 charcot-marie-tooth disease 10.1
11 auditory neuropathy spectrum disorder 10.1
12 autosomal recessive nonsyndromic deafness 3 9.9 TECTA MYO6
13 autosomal recessive nonsyndromic deafness 9.9 TMPRSS3 TECTA
14 deafness, autosomal dominant 10 9.9 TECTA MYO6
15 petroclival meningioma 9.9 TMPRSS4 TMPRSS3
16 deafness, autosomal recessive 8 9.8 TMPRSS4 TMPRSS3
17 deafness, autosomal recessive 83 9.8 TMPRSS4 TMPRSS3
18 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 TECTA MYO6
19 deafness, autosomal recessive 98 9.7 TMPRSS4 TMPRSS3
20 erythrokeratodermia variabilis et progressiva 1 9.7 TECTA MYO6
21 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 TMPRSS3 TECTA MYO6
22 nonsyndromic hearing loss 9.6 TMPRSS3 TECTA MYO6
23 rare genetic deafness 9.6 TMPRSS3 TECTA MYO6
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 TMPRSS4 TMPRSS3 TECTA
25 sensorineural hearing loss 9.2 TMPRSS3 TECTA MYO6
26 auditory system disease 9.2 TMPRSS4 TMPRSS3 TECTA MYO6
27 autosomal dominant nonsyndromic deafness 9.2 TMPRSS4 TMPRSS3 TECTA MYO6

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 7:



Diseases related to Deafness, Autosomal Dominant 7

Symptoms & Phenotypes for Deafness, Autosomal Dominant 7

Human phenotypes related to Deafness, Autosomal Dominant 7:

31
# Description HPO Frequency HPO Source Accession
1 high-frequency hearing impairment 31 HP:0005101

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
downward sloping audiogram
hearing loss, sensorineural, mild to profound
vertigo (in some patients)
tinnitus (in some patients)

Clinical features from OMIM:

601412

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 KCNJ9 LMX1A MPZ MYO6 NME7 TECTA
2 hearing/vestibular/ear MP:0005377 9.26 LMX1A MYO6 TECTA TMPRSS3
3 nervous system MP:0003631 9.17 KCNJ9 LMX1A MPZ MYO6 NME7 TECTA

Drugs & Therapeutics for Deafness, Autosomal Dominant 7

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 7

Genetic Tests for Deafness, Autosomal Dominant 7

Anatomical Context for Deafness, Autosomal Dominant 7

MalaCards organs/tissues related to Deafness, Autosomal Dominant 7:

40
Brain

Publications for Deafness, Autosomal Dominant 7

Articles related to Deafness, Autosomal Dominant 7:

# Title Authors PMID Year
1
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. 6 56
29754270 2018
2
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family. 61 56
8842739 1996
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
4
Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects. 56
23226461 2012
5
The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS. 56
10693804 2000
6
Genetic and physical mapping of the dreher locus on mouse chromosome 1. 56
10444330 1999
7
Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment. 61
17765268 2008
8
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23. 61
14627674 2003
9
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. 61
12408070 2002
10
DFNA7. 61
10868219 2000

Variations for Deafness, Autosomal Dominant 7

ClinVar genetic disease variations for Deafness, Autosomal Dominant 7:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMX1A NM_177398.4(LMX1A):c.721G>C (p.Val241Leu)SNV Pathogenic 812515 1:165179962-165179962 1:165210725-165210725
2 LMX1A NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser)SNV Pathogenic 812516 1:165218851-165218851 1:165249614-165249614

Expression for Deafness, Autosomal Dominant 7

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 7.

Pathways for Deafness, Autosomal Dominant 7

GO Terms for Deafness, Autosomal Dominant 7

Biological processes related to Deafness, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.5 TMPRSS4 LMX1A ATP1B1
2 endocytosis GO:0006897 9.33 TMPRSS4 TMPRSS3 MYO6
3 potassium ion import across plasma membrane GO:1990573 9.26 KCNJ9 ATP1B1
4 sensory perception of sound GO:0007605 9.13 TMPRSS3 TECTA MYO6
5 cellular sodium ion homeostasis GO:0006883 8.62 TMPRSS3 ATP1B1

Molecular functions related to Deafness, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.62 TMPRSS4 TMPRSS3

Sources for Deafness, Autosomal Dominant 7

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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