MCID: MYH002
MIFTS: 18

Myh9-Related Disorders malady

Genetic diseases (common) category

Summaries for Myh9-Related Disorders

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MalaCards based summary: Myh9-Related Disorders, also known as myh9 related disorders, is related to myh9 related thrombocytopenia and may-hegglin anomaly. 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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Myh9-Related Disorders, Aliases & Descriptions:

Name: Myh9-Related Disorders 19
Myh9 Related Disorders 20
 
Sebastian Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Myh9-Related Disorders

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Diseases related to Myh9-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myh9 related thrombocytopenia10.6
2may-hegglin anomaly10.1
3cataract10.1

Symptoms for Myh9-Related Disorders

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Drugs & Therapeutics for Myh9-Related Disorders

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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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Genetic tests related to Myh9-Related Disorders:

id Genetic test Affiliating Genes
1 Myh9-Related Disorders20 MYH9

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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Articles related to Myh9-Related Disorders:

idTitleAuthorsYear
1
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. (25077172)
2014
2
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. (22627578)
2012
3
Renal manifestations of patients with MYH9-related disorders. (21210153)
2011
4
CKD in MYH9-related disorders. (19726116)
2009
5
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. (19630815)
2009
6
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. (15339844)
2005
7
Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. (15020273)
2004
8
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. (11918549)
2002
9
MYH9-Related Disorders (20301740)
1993

Variations for Myh9-Related Disorders

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Clinvar genetic disease variations for Myh9-Related Disorders:

6 (show all 11)
id Gene Variation 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.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
5MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
6MYH9NM_002473.4(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
7MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
8MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
9MYH9NM_002473.4(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995
10MYH9NM_002473.4(MYH9): c.3494G> T (p.Arg1165Leu)single nucleotide variantPathogenicrs80338830GRCh37Chr 22, 36691114: 36691114
11MYH9NM_002473.4(MYH9): c.4270G> T (p.Asp1424Tyr)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Myh9-Related Disorders

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Search GEO for disease gene expression data for Myh9-Related Disorders.

Pathways for genes affiliated with Myh9-Related Disorders

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Pathways related to Myh9-Related Disorders according to GeneCards Suite gene sharing:

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 motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.1MYH6, MYH9
109.1MYH6, MYH9

Compounds for genes affiliated with Myh9-Related Disorders

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Compounds related to Myh9-Related Disorders according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin599.1MYH6, MYH9
2(r)-(+)-blebbistatin599.1MYH6, MYH9
3(s)-(-)-blebbistatin599.0MYH6, MYH9
4bts598.8MYH6, MYH9

GO Terms for genes affiliated with Myh9-Related Disorders

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Cellular components related to Myh9-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:00017259.1MYH6, MYH9

Biological processes related to Myh9-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:00017019.1MYH6, MYH9
2ATP catabolic processGO:00062008.8MYH6, MYH9

Molecular functions related to Myh9-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.2MYH6, MYH9
2microfilament motor activityGO:00001469.1MYH6, MYH9
3actin bindingGO:00037799.1MYH6, MYH9
4ATPase activityGO:00168879.0MYH9, MYH6
5calmodulin bindingGO:00055168.8MYH6, MYH9

Products for genes affiliated with Myh9-Related Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myh9-Related Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet