MCID: MYH002
MIFTS: 17

Myh9-Related Disorders malady

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Summaries for Myh9-Related Disorders

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19GeneReviews, 33MalaCards
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MalaCards: Myh9-Related Disorders is related to macrothrombocytopenia and progressive sensorineural deafness and myh9 related thrombocytopenia. An important gene associated with Myh9-Related Disorders is MYH9 (myosin, heavy chain 9, non-muscle), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Integrin Pathway. The compounds (+-)-blebbistatin and (r)-(+)-blebbistatin have been mentioned in the context of this disorder.

GeneReviews summary for myh9

Aliases & Classifications for Myh9-Related Disorders

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19GeneReviews
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Aliases & Descriptions:

myh9-related disorders 19


Related Diseases for Myh9-Related Disorders

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17GeneCards, 18GeneDecks
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Diseases related to Myh9-Related Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1macrothrombocytopenia and progressive sensorineural deafness30.2MYH9
2myh9 related thrombocytopenia10.5
3cataract10.1

Symptoms for Myh9-Related Disorders

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Drugs & Therapeutics for Myh9-Related Disorders

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Myh9-Related Disorders

Search NIH Clinical Center for Myh9-Related Disorders

Genetic Tests for Myh9-Related Disorders

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Anatomical Context for Myh9-Related Disorders

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Animal Models for Myh9-Related Disorders or affiliated genes

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Publications for Myh9-Related Disorders

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52PubMed
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Articles related to Myh9-Related Disorders:

idTitleAuthorsYear
1
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. (22627578)
2012
2
Renal manifestations of patients with MYH9-related disorders. (21210153)
2011
3
CKD in MYH9-related disorders. (19726116)
2009
4
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. (19630815)
2009
5
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. (15339844)
2005
6
Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. (15020273)
2004
7
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. (11918549)
2002
8
MYH9-Related Disorders (20301740)
1993

Variations for Myh9-Related Disorders

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myh9-Related Disorders:

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

Expression for genes affiliated with Myh9-Related Disorders

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myh9-Related Disorders

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Pathways for genes affiliated with Myh9-Related Disorders

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Sources:
50PathCards, 53QIAGEN, 60Thomson Reuters, 30KEGG
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Pathways related to Myh9-Related Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MYH6, MYH9
2
Show member pathways
9.1MYH6, MYH9
3
Show member pathways
9.1MYH6, MYH9
4
Show member pathways
9.1MYH6, MYH9
5
Show member pathways
9.1MYH9, MYH6
6
Show member pathways
9.1MYH6, MYH9
7
Show member pathways
9.1MYH6, MYH9
8
Show member pathways
9.1MYH9, MYH6
9
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1MYH6, MYH9
109.1MYH6, MYH9

Compounds for genes affiliated with Myh9-Related Disorders

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61Tocris Bioscience
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Compounds related to Myh9-Related Disorders according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin619.1MYH6, MYH9
2(r)-(+)-blebbistatin619.1MYH6, MYH9
3(s)-(-)-blebbistatin619.0MYH6, MYH9
4bts618.8MYH6, MYH9

GO Terms for genes affiliated with Myh9-Related Disorders

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Sources:
16Gene Ontology
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Cellular components related to Myh9-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.1MYH6, MYH9

Biological processes related to Myh9-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:0017019.1MYH6, MYH9
2ATP catabolic processGO:0062008.8MYH6, MYH9

Molecular functions related to Myh9-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:0308989.2MYH6, MYH9
2microfilament motor activityGO:0001469.1MYH6, MYH9
3actin bindingGO:0037799.1MYH6, MYH9
4ATPase activityGO:0168879.0MYH9, MYH6
5calmodulin bindingGO:0055168.8MYH6, MYH9

Products for genes affiliated with Myh9-Related Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myh9-Related Disorders

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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