DFNA28
MCID: DFN094
MIFTS: 31

Deafness, Autosomal Dominant 28 (DFNA28)

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

Aliases & Classifications for Deafness, Autosomal Dominant 28

MalaCards integrated aliases for Deafness, Autosomal Dominant 28:

Name: Deafness, Autosomal Dominant 28 57 29 13 6 71
Dfna28 57 12 73
Autosomal Dominant Nonsyndromic Deafness 28 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 73
Deafness, Autosomal Dominant, Type 28 39
Deafness, Autosomal Dominant, 28 73
Autosomal Dominant Deafness 28 12

Characteristics:

OMIM®:

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

Miscellaneous:
variable age at onset (earliest reported 7 years)
progressive deafness


HPO:

31
deafness, autosomal dominant 28:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110557
OMIM® 57 608641
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1837640
UMLS 71 C1837640

Summaries for Deafness, Autosomal Dominant 28

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 28: 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. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.

MalaCards based summary : Deafness, Autosomal Dominant 28, also known as dfna28, is related to autosomal dominant non-syndromic sensorineural deafness type dfna and sensorineural hearing loss. An important gene associated with Deafness, Autosomal Dominant 28 is GRHL2 (Grainyhead Like Transcription Factor 2). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has material basis in mutation in the GRHL2 gene on chromosome 8q22.

More information from OMIM: 608641 PS124900

Related Diseases for Deafness, Autosomal Dominant 28

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic sensorineural deafness type dfna 28.6 KCNQ4 GSDME GRHL2 EYA4 CRYM COCH
2 sensorineural hearing loss 28.5 KCNQ4 GSDME GRHL2 EYA4 CRYM COCH
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 y-linked monogenic disease 10.1 KCNQ4 GSDME
5 age-related hearing loss 10.1 GRM7 GRHL2
6 deafness, autosomal dominant 41 10.1 KCNQ4 GSDME
7 deafness, autosomal dominant 20 10.1 KCNQ4 GSDME
8 branchiootic syndrome 1 10.1
9 deafness, autosomal dominant 21 10.1 GSDME EYA4
10 deafness, autosomal dominant 6 10.1 KCNQ4 GSDME
11 deafness, autosomal dominant 36 10.0 KCNQ4 GSDME
12 deafness, autosomal dominant 18 10.0 KCNQ4 GSDME GRHL2
13 deafness, autosomal dominant 44 10.0 KCNQ4 EYA4
14 deafness, autosomal dominant 16 10.0 KCNQ4 COCH
15 van der woude syndrome 1 9.9 GRHL3 GRHL2 GRHL1
16 deafness, autosomal dominant 2a 9.9 KCNQ4 COCH
17 deafness, autosomal dominant 10 9.9 KCNQ4 GRHL2 EYA4
18 deafness, autosomal dominant 13 9.9 KCNQ4 GSDME EYA4
19 deafness, autosomal dominant 15 9.9 KCNQ4 GSDME FAM136A
20 deafness, autosomal dominant 12 9.9 KCNQ4 GSDME EYA4
21 branchiootic syndrome 9.9 KCNQ4 EYA4
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 KCNQ4 GSDME COCH
23 hereditary hearing loss and deafness 9.8 EYA4 COCH
24 non-syndromic genetic deafness 9.8 KCNQ4 COCH
25 vestibular disease 9.7 KCNQ4 FAM136A COCH
26 peripheral vertigo 9.7 KCNQ4 FAM136A COCH
27 meniere disease 9.7 KCNQ4 FAM136A COCH
28 nonsyndromic hearing loss 9.7 KCNQ4 EYA4 COCH
29 inner ear disease 9.7 KCNQ4 COCH
30 deafness, autosomal dominant 9 9.6 KCNQ4 GSDME FAM136A COCH
31 deafness, autosomal dominant 2b 9.6 KCNQ4 CRYM COCH
32 auditory system disease 9.6 KCNQ4 GSDME EYA4 COCH
33 rare genetic deafness 9.5 KCNQ4 GSDME EYA4 COCH
34 deafness, autosomal recessive 91 9.5 GSDME GRHL2 CRYM COCH
35 deafness, autosomal dominant 3a 9.5 GSDME GRHL2 CRYM COCH
36 deafness, autosomal recessive 1a 9.3 KCNQ4 GSDME GRHL2 CRYM COCH
37 autosomal dominant nonsyndromic deafness 9.0 KCNQ4 GSDME GRHL2 EYA4 CRYM COCH

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 28:



Diseases related to Deafness, Autosomal Dominant 28

Symptoms & Phenotypes for Deafness, Autosomal Dominant 28

Human phenotypes related to Deafness, Autosomal Dominant 28:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
deafness, sensorineural
mild to moderate hearing loss across most frequencies
severe loss in the higher frequencies by the fifth decade

Clinical features from OMIM®:

608641 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 28:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 COCH CRYM EYA4 GSDME KCNQ4

Drugs & Therapeutics for Deafness, Autosomal Dominant 28

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 28

Genetic Tests for Deafness, Autosomal Dominant 28

Genetic tests related to Deafness, Autosomal Dominant 28:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 28 29 GRHL2

Anatomical Context for Deafness, Autosomal Dominant 28

Publications for Deafness, Autosomal Dominant 28

Articles related to Deafness, Autosomal Dominant 28:

# Title Authors PMID Year
1
Confirmation of GRHL2 as the gene for the DFNA28 locus. 61 6 57
23813623 2013
2
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. 61 57 6
12393799 2002
3
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. 61
29110737 2017
4
Genetics of vestibular disorders: pathophysiological insights. 61
27083884 2016
5
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. 61
25781927 2015
6
Grhl1 deficiency affects inner ear development in zebrafish. 61
25896282 2015
7
Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. 61
21610158 2011

Variations for Deafness, Autosomal Dominant 28

ClinVar genetic disease variations for Deafness, Autosomal Dominant 28:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRHL2 NM_024915.4(GRHL2):c.1258-1G>A SNV Pathogenic 92126 rs398123006 8:102643864-102643864 8:101631636-101631636
2 GRHL2 NM_024915.4(GRHL2):c.1609dup (p.Arg537fs) Duplication Pathogenic 2195 rs398122997 8:102656449-102656450 8:101644221-101644222

Expression for Deafness, Autosomal Dominant 28

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 28.

Pathways for Deafness, Autosomal Dominant 28

GO Terms for Deafness, Autosomal Dominant 28

Biological processes related to Deafness, Autosomal Dominant 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.26 GRHL3 GRHL2
2 establishment of skin barrier GO:0061436 9.16 GRHL3 GRHL1
3 epidermis development GO:0008544 9.13 GRHL3 GRHL2 GRHL1
4 sensory perception of sound GO:0007605 9.1 KCNQ4 GSDME GRM7 EYA4 CRYM COCH

Molecular functions related to Deafness, Autosomal Dominant 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin DNA binding GO:0031490 8.8 GRHL3 GRHL2 GRHL1

Sources for Deafness, Autosomal Dominant 28

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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