DFNA27
MCID: DFN152
MIFTS: 26

Deafness, Autosomal Dominant 27 (DFNA27)

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

Aliases & Classifications for Deafness, Autosomal Dominant 27

MalaCards integrated aliases for Deafness, Autosomal Dominant 27:

Name: Deafness, Autosomal Dominant 27 57 29 13 6 70
Dfna27 57 12 72
Autosomal Dominant Nonsyndromic Deafness 27 12 15
Deafness, Autosomal Dominant, 27 72
Autosomal Dominant Deafness 27 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age of onset varies (7 to 28 years of age)
based on one large north american family (last curated august 2015)


HPO:

31
deafness, autosomal dominant 27:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110556
OMIM® 57 612431
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3887929
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C3887929

Summaries for Deafness, Autosomal Dominant 27

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 27: A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss.

MalaCards based summary : Deafness, Autosomal Dominant 27, also known as dfna27, is related to deafness, autosomal recessive 35 and deafness, autosomal dominant 30. An important gene associated with Deafness, Autosomal Dominant 27 is REST (RE1 Silencing Transcription Factor). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.

OMIM® : 57 DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss (Peters et al., 2008). (612431) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Dominant 27

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 27 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 35 10.0 TMIE GRXCR1
2 deafness, autosomal dominant 30 10.0 TMIE NGRN
3 deafness, autosomal recessive 5 10.0 TMIE NGRN
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 sensorineural hearing loss 9.9
6 deafness, autosomal recessive 25 9.9 MYO15A GRXCR1
7 deafness, autosomal recessive 22 9.9 TMIE MYO15A
8 deafness, autosomal recessive 16 9.9 TMIE MYO15A
9 deafness, autosomal recessive 7 9.9 TMIE MYO15A
10 deafness, autosomal dominant 36 9.9 TMIE MYO15A
11 deafness, autosomal recessive 63 9.9 TMIE MYO15A
12 deafness, autosomal recessive 55 9.8 SUN3 GRXCR1
13 deafness, autosomal recessive 40 9.8 SUN3 GRXCR1
14 deafness, autosomal recessive 9 9.8 TMIE MYO15A
15 autosomal recessive nonsyndromic deafness 9.8 TMIE MYO15A
16 usher syndrome, type id 9.8 TMIE MYO15A
17 deafness, autosomal recessive 27 9.8 TMPRSS11D TMIE NGRN
18 deafness, autosomal recessive 12 9.8 TMIE MYO15A
19 auditory system disease 9.7 TMIE MYO15A
20 deafness, autosomal recessive 9.7 TMIE MYO15A GRXCR1
21 deafness, autosomal recessive 28 9.7 TMIE MYO15A GRXCR1
22 autosomal dominant nonsyndromic deafness 9.7 TMIE MYO15A GRXCR1
23 rare genetic deafness 9.6 TMIE MYO15A GRXCR1
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 TMIE MYO15A
25 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 TMIE MYO15A GRXCR1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 27:



Diseases related to Deafness, Autosomal Dominant 27

Symptoms & Phenotypes for Deafness, Autosomal Dominant 27

Human phenotypes related to Deafness, Autosomal Dominant 27:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, progressive bilateral sensorineural, moderate-to-profound

Clinical features from OMIM®:

612431 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 27:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 GRXCR1 MYO15A REST SRRM4 TMIE

Drugs & Therapeutics for Deafness, Autosomal Dominant 27

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 27

Genetic Tests for Deafness, Autosomal Dominant 27

Genetic tests related to Deafness, Autosomal Dominant 27:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 27 29 REST

Anatomical Context for Deafness, Autosomal Dominant 27

Publications for Deafness, Autosomal Dominant 27

Articles related to Deafness, Autosomal Dominant 27:

# Title Authors PMID Year
1
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. 57 6
29961578 2018
2
A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1. 61 57
18279434 2008

Variations for Deafness, Autosomal Dominant 27

ClinVar genetic disease variations for Deafness, Autosomal Dominant 27:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REST NM_005612.5(REST):c.983-2247C>G SNV Pathogenic 694373 GRCh37: 4:57793760-57793760
GRCh38: 4:56927594-56927594

Expression for Deafness, Autosomal Dominant 27

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 27.

Pathways for Deafness, Autosomal Dominant 27

GO Terms for Deafness, Autosomal Dominant 27

Cellular components related to Deafness, Autosomal Dominant 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 MYO15A GRXCR1

Biological processes related to Deafness, Autosomal Dominant 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.16 SRRM4 REST
2 inner ear morphogenesis GO:0042472 8.96 TMIE MYO15A
3 sensory perception of sound GO:0007605 8.92 TMIE SRRM4 MYO15A GRXCR1

Sources for Deafness, Autosomal Dominant 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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