Myh-9 Related Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Other primary thrombocytopenia

External Ids:

Disease Ontology ¹² DOID:0060651

ICD10 ³³ D69.4

UMLS ⁷³ C1854520

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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

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Related Diseases for Myh-9 Related Disease

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

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	myh9 related thrombocytopenia	12.1
2	cataract	10.0
3	autosomal dominant disease	10.0
4	alport syndrome, x-linked	9.9	MYH9 TUBB1
5	blood coagulation disease	9.9	GP1BA MYH9
6	primary thrombocytopenia	9.9	GP1BA MYH9
7	pseudo-von willebrand disease	9.9	ANO6 GP1BA
8	inherited blood coagulation disease	9.9	ANO6 GP1BA
9	thrombocytopenia-absent radius syndrome	9.8	ANKRD26 GP1BA
10	blood platelet disease	9.8	GP1BA MYH9
11	thrombocytopenia	9.7	ANKRD26 GP1BA MYH9
12	bernard-soulier syndrome	9.7	GP1BA MYH9
13	autosomal dominant macrothrombocytopenia	9.7	GP1BA MYH9 TUBB1

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

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Symptoms & Phenotypes for Myh-9 Related Disease

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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	Completed	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

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Genetic Tests for Myh-9 Related Disease

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Anatomical Context for Myh-9 Related Disease

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Publications for Myh-9 Related Disease

Articles related to Myh-9 Related Disease:

#	Title	Authors	Year
1	MYH9-related disorders: a rare cause of neonatal thrombocytopaenia. ( 30061125 )	Marques MI...Lopo Tuna M	2018
2	Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. ( 25077172 )	Saposnik B....Schlegel N.	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 )	Chen Z....Shivdasani R.A.	2009
6	CKD in MYH9-related disorders. ( 19726116 )	Singh N....Venuto R.C.	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 )	Pujol-Moix N....EspaA+ol I.	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 )	Pagon R.A....Stephens K.	1993

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Genes for Myh-9 Related Disease

Genes related to Myh-9 Related Disease (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MYH9	Myosin Heavy Chain 9	Protein Coding	19.11	DISEASES inferred ¹⁵
2	ANKRD26	Ankyrin Repeat Domain 26	Protein Coding	16.59	DISEASES inferred ¹⁵
3	MYH2	Myosin Heavy Chain 2	Protein Coding	16.31	DISEASES inferred ¹⁵
4	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	15.28	DISEASES inferred ¹⁵
5	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	15.26	DISEASES inferred ¹⁵
6	ANO6	Anoctamin 6	Protein Coding	15.22	DISEASES inferred ¹⁵

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Variations for Myh-9 Related Disease

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Expression for Myh-9 Related Disease

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

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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	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	11.92	MYH2 MYH9 TUBB1
2	Tight junction ³⁷	11.49	MYH2 MYH9
3	Cytoskeleton remodeling_RalB regulation pathway ²²	10.3	MYH2 MYH9
4	amb2 Integrin signaling ¹	10.3	GP1BA MYH2

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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	extracellular exosome	GO:0070062	9.26	ANO6 GP1BA MYH9 TUBB1
2	myosin complex	GO:0016459	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	platelet aggregation	GO:0070527	8.62	GP1BA MYH9

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

#	Name	GO ID	Score	Top Affiliating Genes
1	motor activity	GO:0003774	8.96	MYH2 MYH9
2	microfilament motor activity	GO:0000146	8.62	MYH2 MYH9

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