Deafness, Autosomal Dominant 28 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

External Ids:

OMIM ⁵⁷ 608641

Disease Ontology ¹² DOID:0110557

ICD10 ³³ H90.3

MedGen ⁴² C1837640

MeSH ⁴⁴ D006319

SNOMED-CT via HPO ⁶⁹ 263681008 60700002 252157006 more

UMLS ⁷³ C1837640

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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 deafness, autosomal dominant 15 and marcus gunn phenomenon. 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

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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	Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109	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 3
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 26)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, autosomal dominant 15	10.5	DTNA FAM136A
2	marcus gunn phenomenon	10.5	CHN1 TUBB3
3	facial nerve disease	10.5	KIF21A TUBB3
4	amblyopia	10.3	CHN1 TUBB3
5	autosomal dominant nonsyndromic deafness	10.3	EYA4 FAM136A GRHL2
6	autosomal dominant non-syndromic sensorineural deafness type dfna	10.3	EYA4 GRHL2
7	poland syndrome	10.3	CHN1 TUBB3
8	spastic cerebral palsy	10.3	SIX3 TUBB3
9	duane-radial ray syndrome	10.2	CHN1 SALL4
10	esotropia	10.2	CHN1 TUBB3
11	exotropia	10.2	CHN1 KIF21A TUBB3
12	congenital ptosis	10.1	CHN1 KIF21A TUBB3
13	hypotropia	10.1	CHN1 KIF21A TUBB3
14	hypertropia	10.1	CHN1 KIF21A TUBB3
15	tukel syndrome	10.1	CHN1 KIF21A TUBB3
16	paralytic squint	10.1	CHN1 KIF21A TUBB3
17	meniere disease	10.1	DTNA FAM136A
18	cranial nerve disease	10.1	CHN1 KIF21A TUBB3
19	peripheral nervous system disease	10.1	CHN1 KIF21A TUBB3
20	deafness, autosomal dominant 10	10.1	EYA4 GRHL2 SIX3
21	strabismus	10.1	CHN1 KIF21A TUBB3
22	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
23	chondroid chordoma	9.9	EPCAM TUBB3
24	congenital nervous system abnormality	9.6	SIX3 TUBB3
25	ocular motility disease	9.6	CHN1 KIF21A SALL4 TUBB3
26	duane retraction syndrome	9.6	CHN1 KIF21A SALL4 TUBB3

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

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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	GRHL1 GRHL2 SALL4 SIX3 CHN1 DSG1
2	mortality/aging	MP:0010768	9.28	CHN1 DTNA EPCAM EYA4 GRHL1 GRHL2

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Drugs & Therapeutics for Deafness, Autosomal Dominant 28

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

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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

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Anatomical Context for Deafness, Autosomal Dominant 28

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

⁴¹

Brain

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Publications for Deafness, Autosomal Dominant 28

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Genes for Deafness, Autosomal Dominant 28

Genes related to Deafness, Autosomal Dominant 28 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GRHL2	Grainyhead Like Transcription Factor 2	Protein Coding	1045.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	12393799 20301607 23813623
2	TUBB3	Tubulin Beta 3 Class III	Protein Coding	20.08	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	FAM136A	Family With Sequence Similarity 136 Member A	Protein Coding	17.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	EYA4	EYA Transcriptional Coactivator And Phosphatase 4	Protein Coding	15.9	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	DTNA	Dystrobrevin Alpha	Protein Coding	15.71	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	KIF21A	Kinesin Family Member 21A	Protein Coding	15.63	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	TFCP2	Transcription Factor CP2	Protein Coding	15.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	CHN1	Chimerin 1	Protein Coding	15.11	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	SALL4	Spalt Like Transcription Factor 4	Protein Coding	14.88	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	SIX3	SIX Homeobox 3	Protein Coding	14.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	DSG1	Desmoglein 1	Protein Coding	14.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	13.91	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	GRHL1	Grainyhead Like Transcription Factor 1	Protein Coding	6.32	DISEASES inferred ¹⁵

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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

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Expression for Deafness, Autosomal Dominant 28

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

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Pathways for Deafness, Autosomal Dominant 28

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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	protein binding	GO:0005515	9.73	CHN1 DSG1 DTNA EPCAM EYA4 GRHL1
2	DNA binding transcription factor activity	GO:0003700	9.55	GRHL1 GRHL2 SALL4 SIX3 TFCP2
3	sequence-specific DNA binding	GO:0043565	9.02	GRHL1 GRHL2 SALL4 SIX3 TFCP2

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Sources for Deafness, Autosomal Dominant 28

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⁷⁶ Wikipedia