May-hegglin Anomaly malady

MalaCards: May-hegglin Anomaly, also known as dohle leukocyte inclusions with giant platelets, is related to kaposi's sarcoma and myocarditis. An important gene associated with May-hegglin Anomaly is MYH9 (myosin, heavy chain 9, non-muscle), and among its related pathways are Development MAG-dependent inhibition of neurite outgrowth and Development_MAG-dependent inhibition of neurite outgrowth. The compounds (r)-(+)-blebbistatin and (+-)-blebbistatin have been mentioned in the context of this disorder.

OMIM: 155100

may-hegglin anomaly 7 16 33 32 dohle leukocyte inclusions with giant platelets 16

macrothrombocytopenia with leukocyte inclusions 16 hegglin disease 16

Diseases related to may-hegglin anomaly by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	kaposi's sarcoma	12.1	MYH10, MYH9
2	myocarditis	11.8	MYH10, MYH9
3	sebastian syndrome	9.1
4	fechtner syndrome	8.7
5	macrothrombocytopenia	8.7
6	epstein syndrome	7.3
7	myh9 related thrombocytopenia	7.3

Clinical features from OMIM: 155100

Approved drugs:

Drug clinical trials:

Articles related to may-hegglin anomaly:

(show all 17)

id	Title	Authors	Year	Affiliating Genes
1	The first report of homozygous May-Hegglin anomaly E1 841K mutation. (21083612)	Poopak B.... Saki N.	2011	MYH9
2	A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism (19954613)	Li Y.... Fang M.Y.	2009	MYH9
3	May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease (19227191)	Kunishima S.	2009	MYH9
4	Historical hematology: May-Hegglin anomaly. (17975807)	Saito H.... Kunishima S.	2008	MYH9
5	Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. (16642488)	Otsubo K.... Kunishima S.	2006	MYH9
6	Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. (16044442)	Sehbai A.S.... Brown V.K.	2005	MYH9
7	MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. (12792306)	Seri M.... Savoia A.	2003	MYH9
8	Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)	Deutsch S.... Beris P.	2003	MYH9
9	Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients (12930685)	Yi Y.... Zhang G.S.	2003	MYH9
10	May-Hegglin anomaly--from genome research to clinical laboratory (14560660)	Kunishima S.	2003	MYH9
11	Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)	Di Pumpo M.... Balduini C.L.	2002	MYH9
12	Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)	Hu A.... Sellers J.R.	2002	MYH9
13	Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)	Kunishima S.... Saito H.	2001	MYH9
14	Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. (11590545)	Heath K.E.... Martignetti J.A.	2001	MYH9
15	Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. (10973260)	Kelley M.J.... Korczak J.F.	2000	MYH9
16	Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)	Seri M.... Martignetti J.A.	2000	MYH9
17	Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. (10914687)	Kelley M.J.... Korczak J.F.	2000	MYH9

Genes related to may-hegglin anomaly according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MYH9	myosin, heavy chain 9, non-muscle	11.1	Publications
2	MYH10	myosin, heavy chain 10, non-muscle	11.0	Summaries

Pathways related to may-hegglin anomaly according to GeneDecks:

(show all 27)

id	Pathway	Score	Top Affiliating Genes
1	Development MAG-dependent inhibition of neurite outgrowth10	9.5	MYH9, MYH10
2	Development_MAG-dependent inhibition of neurite outgrowth41	9.5	MYH10, MYH9
3	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases10	9.5	MYH10, MYH9
4	Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases41	9.5	MYH10, MYH9
5	Cell adhesion Tight junctions10	9.5	MYH10, MYH9
6	Cell adhesion_Tight junctions41	9.5	MYH10, MYH9
7	Viral myocarditis20	9.5	MYH10, MYH9
8	Fc-GammaR-Mediated Phagocytosis in Macrophages36	9.5	MYH9, MYH10
9	Cell adhesion_Integrin-mediated cell adhesion and migration41	9.5	MYH9, MYH10
10	Cell adhesion Integrin-mediated cell adhesion and migration10	9.5	MYH10, MYH9
11	Inhibitory action of Lipoxins on neutrophil migration41	9.4	MYH10, MYH9
12	Immune response _CCR3 signaling in eosinophils41	9.4	MYH10, MYH9
13	Immune response CCR3 signaling in eosinophils10	9.4	MYH9, MYH10
14	RhoGDI Pathway36	9.4	MYH10, MYH9
15	Tight junction20	9.4	MYH10, MYH9
16	RhoA Pathway36	9.4	MYH9, MYH10
17	Actin Nucleation by ARP-WASP Complex36	9.4	MYH10, MYH9
18	Cellular Effects of Sildenafil36	9.4	MYH9, MYH10
19	Axon guidance38	9.3	MYH10, MYH9
20	Regulation of actin cytoskeleton20	9.3	MYH9, MYH10
21	Cytoskeletal Signaling3	9.3	MYH10, MYH9
22	Epithelial Tight Junctions36	9.2	MYH9, MYH10
23	Epithelial Adherens Junctions36	9.2	MYH10, MYH9
24	PAK Pathway36	9.1	MYH9, MYH10
25	Antioxidant Action of Vitamin-C36	9.1	MYH9, MYH10
26	Transendothelial Migration of Leukocytes36	9.0	MYH9, MYH10
27	ILK Signaling36	8.8	MYH9, MYH10

Compounds related to may-hegglin anomaly according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	(r)-(+)-blebbistatin42	9.1	MYH10, MYH9
2	(+-)-blebbistatin42	9.0	MYH10, MYH9
3	(s)-(-)-blebbistatin42	8.8	MYH10, MYH9

Cellular components related to may-hegglin anomaly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	myosin II complex	GO:016460	9.2	MYH9, MYH10
2	neuromuscular junction	GO:031594	9.1	MYH9, MYH10
3	spindle	GO:005819	9.1	MYH9, MYH10
4	cleavage furrow	GO:032154	9.0	MYH10, MYH9
5	stress fiber	GO:001725	8.8	MYH9, MYH10

Biological processes related to may-hegglin anomaly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	actin filament-based movement	GO:030048	9.1	MYH10, MYH9
2	axon guidance	GO:007411	9.1	MYH10, MYH9
3	regulation of cell shape	GO:008360	9.0	MYH10, MYH9
4	in utero embryonic development	GO:001701	8.8	MYH10, MYH9

Molecular functions related to may-hegglin anomaly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	actin-dependent ATPase activity	GO:030898	9.2	MYH10, MYH9
2	microfilament motor activity	GO:000146	9.2	MYH10, MYH9
3	ADP binding	GO:043531	9.1	MYH10, MYH9
4	actin binding	GO:003779	9.1	MYH9, MYH10
5	actin filament binding	GO:051015	9.0	MYH10, MYH9
6	calmodulin binding	GO:005516	8.8	MYH10, MYH9