MCID: DFN094
MIFTS: 35

Deafness, Autosomal Dominant 28

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

Aliases & Classifications for Deafness, Autosomal Dominant 28

MalaCards integrated aliases for Deafness, Autosomal Dominant 28:

Name: Deafness, Autosomal Dominant 28 53 28 13 69
Dfna28 53 12 71
Autosomal Dominant Nonsyndromic Deafness 28 12 14
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 71
Deafness, Autosomal Dominant, 28 71
Autosomal Dominant Deafness 28 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 53 608641
Disease Ontology 12 DOID:0110557
ICD10 32 H90.3
MedGen 39 C1837640
MeSH 41 D006319
UMLS 69 C1837640

Summaries for Deafness, Autosomal Dominant 28

UniProtKB/Swiss-Prot : 71 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 deafness, autosomal dominant 15 and marcus gunn phenomenon, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 28 is GRHL2 (Grainyhead Like Transcription Factor 2). Affiliated tissues include brain, and related phenotypes are growth/size/body region and mortality/aging

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 15 10.3 DTNA FAM136A
2 marcus gunn phenomenon 10.3 CHN1 TUBB3
3 esotropia 10.3 CHN1 TUBB3
4 facial nerve disease 10.2 KIF21A TUBB3
5 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2 EYA4 GRHL2
6 amblyopia 10.2 CHN1 TUBB3
7 poland syndrome 10.1 CHN1 TUBB3
8 spastic cerebral palsy 10.1 SIX3 TUBB3
9 duane-radial ray syndrome 10.1 CHN1 SALL4
10 exotropia 10.1 CHN1 KIF21A TUBB3
11 congenital ptosis 10.1 CHN1 KIF21A TUBB3
12 hypotropia 10.1 CHN1 KIF21A TUBB3
13 hypertropia 10.1 CHN1 KIF21A TUBB3
14 paralytic squint 10.1 CHN1 KIF21A TUBB3
15 meniere disease 10.1 DTNA FAM136A
16 tukel syndrome 10.1 CHN1 KIF21A TUBB3
17 cranial nerve disease 10.0 CHN1 KIF21A TUBB3
18 peripheral nervous system disease 10.0 CHN1 KIF21A TUBB3
19 strabismus 10.0 CHN1 KIF21A TUBB3
20 autosomal dominant nonsyndromic deafness 10.0 EYA4 FAM136A GRHL2 TUBB3
21 deafness, autosomal dominant 10 10.0 EYA4 GRHL2 SIX3
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
23 chondroid chordoma 9.9 EPCAM TUBB3
24 congenital nervous system abnormality 9.8 SIX3 TUBB3
25 ocular motility disease 9.8 CHN1 KIF21A SALL4 TUBB3
26 duane retraction syndrome 9.8 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:

53
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:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 28:

43
# 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 28 GRHL2

Anatomical Context for Deafness, Autosomal Dominant 28

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

38
Brain

Publications for Deafness, Autosomal Dominant 28

Articles related to Deafness, Autosomal Dominant 28:

# Title Authors Year
1
Confirmation of GRHL2 as the gene for the DFNA28 locus. ( 23813623 )
2013
2
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. ( 12393799 )
2002

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.1258-1G> A single nucleotide variant Pathogenic rs398123006 GRCh37 Chromosome 8, 102643864: 102643864
2 GRHL2 NM_024915.3(GRHL2): c.1609dupC (p.Arg537Profs) duplication Pathogenic rs398122997 GRCh37 Chromosome 8, 102656450: 102656450
3 GRHL2 NM_024915.3(GRHL2): c.1098+1G> A single nucleotide variant Likely pathogenic rs886044309 GRCh37 Chromosome 8, 102611380: 102611380

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 9.35 GRHL1 GRHL2 SALL4 SIX3 TFCP2
2 neural tube development GO:0021915 9.16 GRHL2 SALL4
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 EPCAM GRHL1 GRHL2 SALL4 SIX3 TFCP2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 GRHL1 GRHL2 SALL4 SIX3 TFCP2

Sources for Deafness, Autosomal Dominant 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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