MCID: DFN094
MIFTS: 33

Deafness, Autosomal Dominant 28

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

Aliases & Classifications for Deafness, Autosomal Dominant 28

MalaCards integrated aliases for Deafness, Autosomal Dominant 28:

Name: Deafness, Autosomal Dominant 28 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 28 12 14
Dfna28 12 71
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:

54
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 54 608641
Disease Ontology 12 DOID:0110557
ICD10 33 H90.3
MedGen 40 C1837640
MeSH 42 D006319

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 autosomal dominant nonsyndromic deafness 28, is related to dfna28 nonsyndromic hearing loss and deafness and interstitial keratitis, 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 Increased shRNA abundance (Z-score > 2) 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

id Related Disease Score Top Affiliating Genes
1 dfna28 nonsyndromic hearing loss and deafness 11.9
2 interstitial keratitis 10.1 DTNA FAM136A
3 mental retardation, autosomal dominant 31 10.0 DTNA FAM136A
4 hemiplegia 9.9 SIX3 TFCP2
5 nodular lichen myxedematosus 9.9 EYA4 GRHL2
6 cardiomyopathy, dilated, 1j 9.7 EYA4 GRHL2 SIX3
7 ectodermal dysplasia/short stature syndrome 6.5 DSG1 DTNA EPCAM EYA4 FAM136A GRHL1

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:

54

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 DSG1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.5 DSG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.5 EPCAM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.5 DSG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.5 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 EPCAM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.5 EPCAM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.5 DSG1 EPCAM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 DSG1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 EPCAM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.5 EPCAM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 DSG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.5 DSG1 EPCAM

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 28:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.17 DSG1 DTNA EPCAM EYA4 GRHL1 GRHL2

Drugs & Therapeutics for Deafness, Autosomal Dominant 28

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 28

Genetic Tests for Deafness, Autosomal Dominant 28

Genetic tests related to Deafness, Autosomal Dominant 28:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 28 29

Anatomical Context for Deafness, Autosomal Dominant 28

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

39
Brain

Publications for Deafness, Autosomal Dominant 28

Variations for Deafness, Autosomal Dominant 28

ClinVar genetic disease variations for Deafness, Autosomal Dominant 28:

6
id 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.1258-1G> A single nucleotide variant Pathogenic rs398123006 GRCh37 Chromosome 8, 102643864: 102643864
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

Cellular components related to Deafness, Autosomal Dominant 28 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 8.62 DSG1 EPCAM

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

id Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.16 GRHL2 SIX3
2 transcription from RNA polymerase II promoter GO:0006366 9.13 GRHL1 GRHL2 SIX3
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 8.92 EPCAM GRHL1 GRHL2 SIX3

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

id Name GO ID Score Top Affiliating Genes
1 chromatin DNA binding GO:0031490 8.96 GRHL1 GRHL2
2 sequence-specific DNA binding GO:0043565 8.8 GRHL1 GRHL2 SIX3

Sources for Deafness, Autosomal Dominant 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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