MCID: MCR139

Macrothrombocytopenia and Progressive Sensorineural Deafness malady

Ear, Blood categories

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources:
47OMIM, 33MalaCards
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MalaCards: Macrothrombocytopenia and Progressive Sensorineural Deafness is related to myh9 related thrombocytopenia and sebastian syndrome. 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

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear, Blood


Aliases & Descriptions:

macrothrombocytopenia and progressive sensorineural deafness 47


Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources:
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 thrombocytopenia10.4
2sebastian syndrome10.4

Clinical Features for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources:
47OMIM
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Clinical features from OMIM:

600208

Clinical synopsis from OMIM:

600208

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Macrothrombocytopenia and Progressive Sensorineural Deafness

Drug clinical trials:

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Search NIH Clinical Center for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search CenterWatch for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

Animal Models for Macrothrombocytopenia and Progressive Sensorineural Deafness or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

63
id Symbol AA change Variation SNP ID
1MYH9p.Asp1424AsnVAR_018316

Expression for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

Search GEO for disease gene expression data for Macrothrombocytopenia and Progressive Sensorineural Deafness.

Pathways for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

Compounds for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

GO Terms for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

Products for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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  • Proteins
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Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet