MCID: DFN200
MIFTS: 19

Deafness, Autosomal Dominant 17 malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 17

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Aliases & Descriptions for Deafness, Autosomal Dominant 17:

Name: Deafness, Autosomal Dominant 17 49 11 65
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 65
Deafness, Autosomal Dominant, 17 67
 
Cochleosaccular Degeneration 67
Dfna17 67

Characteristics:

HPO:

61
deafness, autosomal dominant 17:
Onset and clinical course: juvenile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 603622
MeSH36 D006319
UMLS65 C1861512, C1863659

Summaries for Deafness, Autosomal Dominant 17

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UniProtKB/Swiss-Prot:67 Deafness, autosomal dominant, 17: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.

MalaCards based summary: Deafness, Autosomal Dominant 17, also known as cochleosaccular degeneration of the inner ear and progressive cataracts, is related to cochleosaccular degeneration of the inner ear and progressive cataracts and cochleosaccular degeneration-cataract syndrome, and has symptoms including high-frequency hearing impairment An important gene associated with Deafness, Autosomal Dominant 17 is MYH9 (Myosin, Heavy Chain 9, Non-Muscle).

Description from OMIM:49 603622

Related Diseases for Deafness, Autosomal Dominant 17

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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 32
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 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 Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
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 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 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 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 Recessive 48 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 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
Otof-Related Deafness Deafness, Autosomal Dominant, 68
Deafness, Autosomal Recessive, 97

Diseases related to Deafness, Autosomal Dominant 17 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cochleosaccular degeneration of the inner ear and progressive cataracts12.5
2cochleosaccular degeneration-cataract syndrome12.5
3dfna17 nonsyndromic hearing loss and deafness12.3
4deafness, autosomal dominant nonsyndromic sensorineural 1711.5

Symptoms for Deafness, Autosomal Dominant 17

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Symptoms by clinical synopsis from OMIM:

603622

Clinical features from OMIM:

603622

HPO human phenotypes related to Deafness, Autosomal Dominant 17:

id Description Frequency HPO Source Accession
1 high-frequency hearing impairment HP:0005101

Drugs & Therapeutics for Deafness, Autosomal Dominant 17

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prevalence of POU4F3 and SLC17A8 MutationsTerminatedNCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 17

Genetic Tests for Deafness, Autosomal Dominant 17

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Anatomical Context for Deafness, Autosomal Dominant 17

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Animal Models for Deafness, Autosomal Dominant 17 or affiliated genes

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Publications for Deafness, Autosomal Dominant 17

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Variations for Deafness, Autosomal Dominant 17

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 17:

67
id Symbol AA change Variation ID SNP ID
1MYH9p.Arg705HisVAR_010793

Clinvar genetic disease variations for Deafness, Autosomal Dominant 17:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.4546G> T (p.Val1516Leu)single nucleotide variantLikely pathogenicrs727503284GRCh37Chr 22, 36685142: 36685142

Expression for genes affiliated with Deafness, Autosomal Dominant 17

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Search GEO for disease gene expression data for Deafness, Autosomal Dominant 17.

Pathways for genes affiliated with Deafness, Autosomal Dominant 17

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GO Terms for genes affiliated with Deafness, Autosomal Dominant 17

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Sources for Deafness, Autosomal Dominant 17

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet