DFNA18
MCID: DFN149
MIFTS: 23

Deafness, Autosomal Dominant 18 (DFNA18)

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

Aliases & Classifications for Deafness, Autosomal Dominant 18

MalaCards integrated aliases for Deafness, Autosomal Dominant 18:

Name: Deafness, Autosomal Dominant 18 56 13 71
Autosomal Dominant Nonsyndromic Deafness 18 12 15
Dfna18 56 12
Autosomal Dominant Deafness 18 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age
based on one 4-generation german family (last curated august 2015)


HPO:

31
deafness, autosomal dominant 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110549
OMIM 56 606012
OMIM Phenotypic Series 56 PS124900
ICD10 32 H90.3
MedGen 41 C1853760
SNOMED-CT via HPO 68 263681008
UMLS 71 C1853760

Summaries for Deafness, Autosomal Dominant 18

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.

MalaCards based summary : Deafness, Autosomal Dominant 18, also known as autosomal dominant nonsyndromic deafness 18, is related to age-related hearing loss and autosomal dominant nonsyndromic deafness. An important gene associated with Deafness, Autosomal Dominant 18 is DFNA18 (Deafness, Autosomal Dominant 18). Related phenotypes are progressive hearing impairment and hearing/vestibular/ear

More information from OMIM: 606012 PS124900

Related Diseases for Deafness, Autosomal Dominant 18

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
Nonsyndromic Deafness 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 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Dominant 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 age-related hearing loss 30.2 NAT2 GRHL2
2 autosomal dominant nonsyndromic deafness 29.7 KCNQ4 GSDME GRHL2 DFNA18 COL11A2 COCH
3 branchiootic syndrome 1 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 deafness, autosomal recessive 15 10.2
6 myotonic dystrophy 2 10.2
7 deafness, autosomal dominant 2b 10.1 KCNQ4 GSDME
8 deafness, autosomal dominant 44 9.9 GSDME COL11A2
9 deafness, autosomal dominant 20 9.9 GSDME ESPNL
10 deafness, autosomal dominant 4b 9.8 KCNQ4 COL11A2
11 non-syndromic genetic deafness 9.8 KCNQ4 COCH
12 deafness, autosomal recessive 5 9.8 NGRN COCH
13 deafness, autosomal dominant 2a 9.8 KCNQ4 COCH
14 deafness, autosomal dominant 23 9.7 NGRN COCH
15 deafness, autosomal dominant 17 9.7 GSDME COCH
16 deafness, autosomal dominant 21 9.7 NGRN GSDME COL11A2
17 deafness, autosomal dominant 10 9.6 GSDME GRHL2 COL11A2
18 deafness, autosomal dominant 11 9.6 GSDME COCH
19 deafness, autosomal dominant 41 9.6 KCNQ4 GSDME COCH
20 deafness, autosomal dominant 25 9.6 KCNQ4 GSDME COCH
21 rare genetic deafness 9.5 KCNQ4 GSDME COCH
22 vestibular disease 9.5 KCNQ4 COCH
23 deafness, autosomal dominant 3a 9.5 GSDME GRHL2 COCH
24 deafness, autosomal recessive 91 9.5 GSDME GRHL2 COCH
25 deafness, autosomal recessive 1a 9.5 GSDME GRHL2 COCH
26 hereditary hearing loss and deafness 9.4 COL11A2 COCH
27 inner ear disease 9.4 KCNQ4 COCH
28 deafness, autosomal dominant 28 9.3 KCNQ4 GSDME GRHL2 COCH
29 deafness, autosomal dominant 13 9.1 KCNQ4 GSDME COL11A2 COCH
30 deafness, autosomal dominant 9 9.1 KCNQ4 GSDME COL11A2 COCH
31 deafness, autosomal dominant 6 9.1 KCNQ4 GSDME COL11A2 COCH
32 deafness, autosomal dominant 15 9.1 KCNQ4 GSDME COL11A2 COCH
33 deafness, autosomal dominant 12 9.1 KCNQ4 GSDME COL11A2 COCH
34 auditory system disease 9.1 KCNQ4 GSDME COL11A2 COCH
35 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.1 KCNQ4 GSDME COL11A2 COCH
36 autosomal dominant non-syndromic sensorineural deafness type dfna 8.8 KCNQ4 GSDME GRHL2 COL11A2 COCH
37 sensorineural hearing loss 8.7 KCNQ4 GSDME GRHL2 COL11A2 COCH
38 nonsyndromic deafness 8.4 KCNQ4 GSDME GRHL2 ESPNL COL11A2 COCH

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 18:



Diseases related to Deafness, Autosomal Dominant 18

Symptoms & Phenotypes for Deafness, Autosomal Dominant 18

Human phenotypes related to Deafness, Autosomal Dominant 18:

31
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, progressive (progressing from mild to severe or profound)

Clinical features from OMIM:

606012

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 18:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 COCH COL11A2 ESPNL GSDME KCNQ4

Drugs & Therapeutics for Deafness, Autosomal Dominant 18

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 18

Genetic Tests for Deafness, Autosomal Dominant 18

Anatomical Context for Deafness, Autosomal Dominant 18

Publications for Deafness, Autosomal Dominant 18

Articles related to Deafness, Autosomal Dominant 18:

# Title Authors PMID Year
1
PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype. 61 56
12519376 2003
2
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus. 61 56
11313754 2001
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
4
Hearing impairment susceptibility in elderly men and the DFNA18 locus. 61
16702566 2006

Variations for Deafness, Autosomal Dominant 18

Expression for Deafness, Autosomal Dominant 18

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 18.

Pathways for Deafness, Autosomal Dominant 18

GO Terms for Deafness, Autosomal Dominant 18

Biological processes related to Deafness, Autosomal Dominant 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.02 KCNQ4 GSDME ESPNL COL11A2 COCH

Sources for Deafness, Autosomal Dominant 18

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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