MCID: MCR139
MIFTS: 17

Macrothrombocytopenia and Progressive Sensorineural Deafness malady

Genetic diseases, Nephrological diseases, Blood diseases, Rare diseases, Ear diseases categories
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Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).

MalaCards: Macrothrombocytopenia and Progressive Sensorineural Deafness, also known as myh9-related syndromic thrombocytopenia, is related to myh9-related disorders and myh9 related thrombocytopenia. An important gene associated with Macrothrombocytopenia and Progressive Sensorineural Deafness is MYH9 (myosin, heavy chain 9, non-muscle).

Description from OMIM:47 600208

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
myh9-related syndromic thrombocytopenia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

macrothrombocytopenia and progressive sensorineural deafness 47
myh9-related syndromic thrombocytopenia 49
myh9-related syndrome 49
myh9-related disorder 49
myh9-related disease 49
myh9-rd 49


External Ids:

OMIM47 600208
ICD10 via Orphanet26 D69.4

Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

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17GeneCards, 18GeneDecks
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Diseases related to Macrothrombocytopenia and Progressive Sensorineural Deafness via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myh9-related disorders10.6
2myh9 related thrombocytopenia10.4
3cataract10.1
4myelofibrosis10.1

Symptoms for Macrothrombocytopenia and Progressive Sensorineural Deafness

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47OMIM
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Symptoms by clinical synopsis from OMIM:

600208

Clinical features from OMIM:

600208

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search NIH Clinical Center for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Animal Models for Macrothrombocytopenia and Progressive Sensorineural Deafness or affiliated genes

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Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

64
id Symbol AA change Variation ID SNP ID
1MYH9p.Asp1424AsnVAR_018316

Clinvar genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
5MYH9NM_002473.4(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
6MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
7MYH9MYH9, 18-BP DEL, NT228deletionPathogenic

Expression for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Pathways for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Compounds for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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GO Terms for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Products for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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  • Antibodies
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Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet