DFNA28
MCID: DFN094
MIFTS: 32

Deafness, Autosomal Dominant 28 (DFNA28)

Categories: Blood diseases, 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 56 29 13 6 71
Dfna28 56 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:

56
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 56 608641
OMIM Phenotypic Series 56 PS124900
MeSH 43 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). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and Synthetic lethal with Ras

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

(show all 38)
# 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 28.6 KCNQ4 GSDME GRHL2 EYA4 CRYM COCH
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 branchiootic syndrome 1 10.4
5 y-linked deafness 10.2 KCNQ4 GSDME
6 y-linked monogenic disease 10.2 KCNQ4 GSDME
7 age-related hearing loss 10.1 GRM7 GRHL2
8 deafness, autosomal dominant 16 10.1 KCNQ4 COCH
9 deafness, autosomal dominant 41 10.1 KCNQ4 GSDME
10 non-syndromic genetic deafness 10.1 KCNQ4 COCH
11 deafness, autosomal dominant 2a 10.1 KCNQ4 COCH
12 deafness, autosomal dominant 25 10.0 KCNQ4 COCH
13 deafness, autosomal dominant 11 10.0 GSDME COCH
14 deafness, autosomal dominant 20 10.0 KCNQ4 GSDME COCH
15 deafness, autosomal dominant 6 10.0 KCNQ4 GSDME COCH
16 waardenburg syndrome, type 1 9.9 GSDME COCH
17 van der woude syndrome 1 9.9 GRHL3 GRHL2 GRHL1
18 deafness, autosomal dominant 21 9.8 GSDME EYA4
19 vestibular disease 9.8 KCNQ4 FAM136A COCH
20 peripheral vertigo 9.8 KCNQ4 FAM136A COCH
21 deafness, autosomal dominant 18 9.8 KCNQ4 GSDME GRHL2 COCH
22 chronic purulent otitis media 9.8 EYA4 COCH
23 deafness, autosomal dominant 2b 9.7 KCNQ4 CRYM COCH
24 deafness, autosomal dominant 15 9.7 KCNQ4 GSDME FAM136A COCH
25 deafness, autosomal dominant 9 9.7 KCNQ4 GSDME FAM136A COCH
26 deafness, autosomal dominant 10 9.7 KCNQ4 GRHL2 EYA4
27 meniere disease 9.6 FAM136A COCH
28 deafness, autosomal dominant 12 9.6 GSDME EYA4 COCH
29 deafness, autosomal dominant 44 9.6 KCNQ4 EYA4 COCH
30 deafness, autosomal dominant 3a 9.6 GSDME GRHL2 CRYM COCH
31 deafness, autosomal recessive 91 9.6 GSDME GRHL2 CRYM COCH
32 hereditary hearing loss and deafness 9.6 EYA4 COCH
33 nonsyndromic hearing loss 9.5 KCNQ4 EYA4 COCH
34 deafness, autosomal recessive 1a 9.5 KCNQ4 GSDME CRYM COCH
35 deafness, autosomal dominant 13 9.4 KCNQ4 GSDME EYA4 COCH
36 auditory system disease 9.4 KCNQ4 GSDME EYA4 COCH
37 rare genetic deafness 9.3 KCNQ4 GSDME EYA4 COCH
38 autosomal dominant nonsyndromic deafness 8.7 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:

56
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

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 28 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 9.02 CHN1 CRYM EYA4 GRHL1 GRHL2

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 28:

45
# 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

MalaCards organs/tissues related to Deafness, Autosomal Dominant 28:

40
Brain

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. 6 56 61
23813623 2013
2
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. 61 6 56
12393799 2002
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
4
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
5
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. 61
29110737 2017
6
Genetics of vestibular disorders: pathophysiological insights. 61
27083884 2016
7
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. 61
25781927 2015
8
Grhl1 deficiency affects inner ear development in zebrafish. 61
25896282 2015
9
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.1609dup (p.Arg537fs)duplication Pathogenic 2195 rs398122997 8:102656449-102656450 8:101644221-101644222
2 GRHL2 NM_024915.4(GRHL2):c.1258-1G>ASNV Pathogenic 92126 rs398123006 8:102643864-102643864 8:101631636-101631636

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 establishment of skin barrier GO:0061436 9.16 GRHL3 GRHL1
2 epidermis development GO:0008544 9.13 GRHL3 GRHL2 GRHL1
3 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
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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