MCID: MYH015
MIFTS: 24

Myh-9 Related Disease

Categories: Blood diseases

Aliases & Classifications for Myh-9 Related Disease

MalaCards integrated aliases for Myh-9 Related Disease:

Name: Myh-9 Related Disease 12 15
Myh9-Related Disorders 24
Sebastian Syndrome 73

Characteristics:

GeneReviews:

24
Penetrance Penetrance is complete for the following congenital findings:...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060651
ICD10 33 D69.4
UMLS 73 C1854520

Summaries for Myh-9 Related Disease

Disease Ontology : 12 A blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.

MalaCards based summary : Myh-9 Related Disease, also known as myh9-related disorders, is related to myh9 related thrombocytopenia and cataract. An important gene associated with Myh-9 Related Disease is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Tight junction.

GeneReviews: NBK2689

Related Diseases for Myh-9 Related Disease

Diseases related to Myh-9 Related Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myh9 related thrombocytopenia 11.7
2 cataract 9.9
3 primary thrombocytopenia 9.5 GP1BA MYH9
4 blood platelet disease 9.4 GP1BA MYH9
5 bernard-soulier syndrome 9.1 GP1BA MYH9
6 autosomal dominant macrothrombocytopenia 9.0 GP1BA MYH9 TUBB1
7 thrombocytopenia 9.0 ANKRD26 GP1BA MYH9
8 thrombocytopenia-absent radius syndrome 8.8 ANKRD26 GP1BA NBEAL2

Graphical network of the top 20 diseases related to Myh-9 Related Disease:



Diseases related to Myh-9 Related Disease

Symptoms & Phenotypes for Myh-9 Related Disease

Drugs & Therapeutics for Myh-9 Related Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
3 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Myh-9 Related Disease

Genetic Tests for Myh-9 Related Disease

Anatomical Context for Myh-9 Related Disease

Publications for Myh-9 Related Disease

Articles related to Myh-9 Related Disease:

# Title Authors Year
1
MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience. ( 27614228 )
2016
2
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. ( 25077172 )
2014
3
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. ( 22627578 )
2012
4
Renal manifestations of patients with MYH9-related disorders. ( 21210153 )
2011
5
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. ( 19630815 )
2009
6
CKD in MYH9-related disorders. ( 19726116 )
2009
7
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. ( 15339844 )
2005
8
Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. ( 15020273 )
2004
9
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. ( 11918549 )
2002
10
MYH9-Related Disorders ( 20301740 )
1993

Variations for Myh-9 Related Disease

Expression for Myh-9 Related Disease

Search GEO for disease gene expression data for Myh-9 Related Disease.

Pathways for Myh-9 Related Disease

Pathways related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.92 MYH2 MYH9 TUBB1
2 11.39 MYH2 MYH9
3 10.3 GP1BA MYH2

GO Terms for Myh-9 Related Disease

Cellular components related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYH2 MYH9
2 actomyosin contractile ring GO:0005826 8.62 MYH2 MYH9

Biological processes related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.16 MYH2 MYH9
2 platelet aggregation GO:0070527 8.96 GP1BA MYH9
3 platelet formation GO:0030220 8.62 MYH9 NBEAL2

Molecular functions related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 MYH2 MYH9
2 microtubule motor activity GO:0003777 9.16 MYH2 MYH9
3 motor activity GO:0003774 8.96 MYH2 MYH9
4 microfilament motor activity GO:0000146 8.62 MYH2 MYH9

Sources for Myh-9 Related Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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