DFNA28
MCID: DFN094
MIFTS: 34

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 57 29 13 6 73
Dfna28 57 12 75
Autosomal Dominant Nonsyndromic Deafness 28 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 75
Deafness, Autosomal Dominant, Type 28 40
Deafness, Autosomal Dominant, 28 75
Autosomal Dominant Deafness 28 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 28:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608641
Disease Ontology 12 DOID:0110557
ICD10 33 H90.3
MedGen 42 C1837640
MeSH 44 D006319
UMLS 73 C1837640

Summaries for Deafness, Autosomal Dominant 28

UniProtKB/Swiss-Prot : 75 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal dominant 15. 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 growth/size/body region

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.

Description from OMIM: 608641

Related Diseases for Deafness, Autosomal Dominant 28

Diseases in the Familial 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 deafness, autosomal dominant 15 10.1 DTNA FAM136A
3 marcus gunn phenomenon 10.1 CHN1 TUBB3
4 facial nerve disease 10.1 KIF21A TUBB3
5 spastic cerebral palsy 10.1 SIX3 TUBB3
6 meniere disease 10.1 DTNA FAM136A
7 autosomal dominant nonsyndromic deafness 10.1 EYA4 FAM136A GRHL2
8 esotropia 10.1 CHN1 TUBB3
9 exotropia 10.0 CHN1 KIF21A TUBB3
10 congenital ptosis 10.0 CHN1 KIF21A TUBB3
11 hypotropia 10.0 CHN1 KIF21A TUBB3
12 deafness, autosomal dominant 10 10.0 EYA4 GRHL2 SIX3
13 hypertropia 10.0 CHN1 KIF21A TUBB3
14 duane-radial ray syndrome 10.0 CHN1 SALL4
15 tukel syndrome 10.0 CHN1 KIF21A TUBB3
16 paralytic squint 10.0 CHN1 KIF21A TUBB3
17 ocular motility disease 10.0 CHN1 KIF21A TUBB3
18 cranial nerve disease 10.0 CHN1 KIF21A TUBB3
19 band heterotopia 10.0 SIX3 TUBB3
20 peripheral nervous system disease 10.0 CHN1 KIF21A TUBB3
21 strabismus 10.0 CHN1 KIF21A TUBB3
22 amblyopia 10.0 CHN1 TUBB3
23 chondroid chordoma 9.9 EPCAM TUBB3
24 congenital nervous system abnormality 9.9 SIX3 TUBB3
25 duane retraction syndrome 9.9 CHN1 KIF21A SALL4 TUBB3

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Deafness, Autosomal Dominant 28:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 28:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.61 CHN1 DSG1 DTNA EPCAM EYA4 GRHL1
2 mortality/aging MP:0010768 9.28 CHN1 DTNA EPCAM EYA4 GRHL1 GRHL2

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:

41
Brain

Publications for Deafness, Autosomal Dominant 28

Articles related to Deafness, Autosomal Dominant 28:

# Title Authors Year
1
Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. ( 21610158 )
2011

Variations for Deafness, Autosomal Dominant 28

ClinVar genetic disease variations for Deafness, Autosomal Dominant 28:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRHL2 NM_024915.3(GRHL2): c.1609dupC (p.Arg537Profs) duplication Pathogenic rs398122997 GRCh37 Chromosome 8, 102656450: 102656450
2 GRHL2 NM_024915.3(GRHL2): c.1609dupC (p.Arg537Profs) duplication Pathogenic rs398122997 GRCh38 Chromosome 8, 101644222: 101644222
3 GRHL2 NM_024915.3(GRHL2): c.1258-1G> A single nucleotide variant Pathogenic rs398123006 GRCh37 Chromosome 8, 102643864: 102643864
4 GRHL2 NM_024915.3(GRHL2): c.1258-1G> A single nucleotide variant Pathogenic rs398123006 GRCh38 Chromosome 8, 101631636: 101631636
5 GRHL2 NM_024915.3(GRHL2): c.1098+1G> A single nucleotide variant Likely pathogenic rs886044309 GRCh37 Chromosome 8, 102611380: 102611380
6 GRHL2 NM_024915.3(GRHL2): c.1098+1G> A single nucleotide variant Likely pathogenic rs886044309 GRCh38 Chromosome 8, 101599152: 101599152

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 transcription by RNA polymerase II GO:0006366 9.46 GRHL1 GRHL2 SIX3 TFCP2
2 neural tube development GO:0021915 9.26 GRHL2 SALL4
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 EPCAM GRHL1 GRHL2 SALL4 SIX3 TFCP2
4 anatomical structure development GO:0048856 8.96 EYA4 SIX3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 CHN1 DSG1 DTNA EPCAM EYA4 GRHL1
2 sequence-specific DNA binding GO:0043565 9.26 GRHL1 GRHL2 SIX3 TFCP2

Sources for Deafness, Autosomal Dominant 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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