MCID: MCR139
MIFTS: 10

Macrothrombocytopenia and Progressive Sensorineural Deafness malady

Ear diseases, Blood diseases categories

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Sources:
46OMIM, 32MalaCards
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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:46 600208

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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46OMIM
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Classifications:

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


Aliases & Descriptions:

macrothrombocytopenia and progressive sensorineural deafness 46


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 thrombocytopenia10.3
2sebastian syndrome10.3

Clinical Features for Macrothrombocytopenia and Progressive Sensorineural Deafness

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46OMIM
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Clinical features from OMIM:

600208

Clinical synopsis from OMIM:

600208

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Macrothrombocytopenia and Progressive Sensorineural Deafness

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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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Genetic Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

62
id Symbol AA change Variation ID SNP ID
1MYH9p.Asp1424AsnVAR_018316

Expression for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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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

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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet