MCID: MYH001
MIFTS: 43

May-Hegglin Anomaly malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for May-Hegglin Anomaly

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Aliases & Descriptions for May-Hegglin Anomaly:

Name: May-Hegglin Anomaly 49 11 22 47 67 24
Dohle Leukocyte Inclusions with Giant Platelets 22 67
Macrothrombocytopenia with Leukocyte Inclusions 22 67
Bleeding Disorder Platelet-Type 6 67
 
Hegglin Disease 22
Bdplt6 67
Mha 67

Characteristics:

HPO:

61
may-hegglin anomaly:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 155100
MedGen34 C0340978
MeSH36 D013921

Summaries for May-Hegglin Anomaly

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OMIM:49 May-Hegglin anomaly is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets,... (155100) more...

MalaCards based summary: May-Hegglin Anomaly, also known as dohle leukocyte inclusions with giant platelets, is related to fechtner syndrome and myh9 related thrombocytopenia, and has symptoms including neutrophil inclusion bodies, prolonged bleeding time and abnormal thrombosis. An important gene associated with May-Hegglin Anomaly is MYH9 (Myosin, Heavy Chain 9, Non-Muscle), and among its related pathways are Regulation of actin cytoskeleton and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include eye, neutrophil and bone.

UniProtKB/Swiss-Prot:67 May-Hegglin anomaly: A disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies.

Related Diseases for May-Hegglin Anomaly

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Graphical network of the top 20 diseases related to May-Hegglin Anomaly:



Diseases related to may-hegglin anomaly

Symptoms for May-Hegglin Anomaly

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Symptoms by clinical synopsis from OMIM:

155100

Clinical features from OMIM:

155100

HPO human phenotypes related to May-Hegglin Anomaly:

(show all 9)
id Description Frequency HPO Source Accession
1 neutrophil inclusion bodies HP:0008264
2 prolonged bleeding time HP:0003010
3 abnormal thrombosis HP:0001977
4 giant platelets HP:0001902
5 thrombocytopenia HP:0001873
6 myocardial infarction HP:0001658
7 bruising susceptibility HP:0000978
8 epistaxis HP:0000421
9 menorrhagia HP:0000132

Drugs & Therapeutics for May-Hegglin Anomaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related DiseaseCompletedNCT01133860Phase 2
2Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional ThrombocytopeniaCompletedNCT00925236

Search NIH Clinical Center for May-Hegglin Anomaly

Genetic Tests for May-Hegglin Anomaly

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Genetic tests related to May-Hegglin Anomaly:

id Genetic test Affiliating Genes
1 May-Hegglin Anomaly22 MYH9

Anatomical Context for May-Hegglin Anomaly

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MalaCards organs/tissues related to May-Hegglin Anomaly:

33
Eye, Neutrophil, Bone, Ovary, Prostate, B cells, Monocytes

Animal Models for May-Hegglin Anomaly or affiliated genes

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Publications for May-Hegglin Anomaly

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Articles related to May-Hegglin Anomaly:

(show all 37)
idTitleAuthorsYear
1
Neurodevelopmental outcome at one year of age in congenital diaphragmatic hernia infants not treated with extracorporeal membrane oxygenation. (25818204)
2015
2
XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage. (25969448)
2015
3
Mild fasting hyperglycemia shifts fuel reliance toward fat during exercise in adults with impaired glucose tolerance. (23599396)
2013
4
High response rate and acceptable toxicity of a combination of rituximab, vinorelbine, ifosfamide, mitoxantrone and prednisone for the treatment of diffuse large B-cell lymphoma in first relapse: results of the R-NIMP GOELAMS study. (23692641)
2013
5
Phaeochromocytoma crisis: two cases of undiagnosed phaeochromocytoma presenting after elective nonrelated surgical procedures. (24288628)
2013
6
Hyperglycemia related to high-dose glucocorticoid use in noncritically ill patients. (23557386)
2013
7
Adenoid squamous cell carcinoma of the oral cavity. (22808297)
2012
8
Systematic approach to ruptured abdominal aortic aneurysm in the endovascular era: Intention-to-treat eEVAR protocol. (22231533)
2012
9
660 AsGaAl laser to alleviate pain caused by cryosurgical treatment of oral leukoplakia: a preliminary study. (21214392)
2011
10
A de novo paradigm for mental retardation. (21076407)
2010
11
Processing of wh-questions in a case of posterior cortical atrophy. (21271923)
2009
12
Omphalocele: how big does it have to be a giant one? (19573683)
2009
13
Caring for a post-surgical neonate with choanal atresia. (19886565)
2009
14
Folliculitis decalvans. (18715292)
2008
15
Atrophin recruits HDAC1/2 and G9a to modify histone H3K9 and to determine cell fates. (18451879)
2008
16
Radiosurgery for glomus jugulare tumors. (17877430)
2007
17
Reversible autoimmune thyroidiitis and oophoritis in a patient with Addison's disease. (17535393)
2007
18
Metformin administration modulates neurosteroids secretion in non-obese amenorrhoic patients with polycystic ovary syndrome. (16522532)
2006
19
Rocaglaol induces apoptosis and cell cycle arrest in LNCaP cells. (16619491)
2006
20
Angiotensin II-induced mononuclear leukocyte interactions with arteriolar and venular endothelium are mediated by the release of different CC chemokines. (16622027)
2006
21
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. (16150949)
2006
22
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. (16790605)
2006
23
Expression of 5-oxoETE receptor in prostate cancer cells: critical role in survival. (16289380)
2006
24
Multidisciplinary treatment in children with non-metastatic hepatoblastoma: treatment results at the National Cancer Institute, Cairo University. (15912149)
2004
25
Identification of structural motifs and amino acids within the structure of human heparan sulfate 3-O-sulfotransferase that mediate enzymatic function. (11811992)
2002
26
Apoptosis detected with monoclonal antibody to single-stranded DNA is a predictor of recurrence in intracranial meningiomas. (11804277)
2001
27
Genetic analysis of spermidine synthase from Leishmania donovani. (11420108)
2001
28
Effect of methanol, ethanol, dimethyl sulfoxide, and acetonitrile on in vitro activities of cDNA-expressed human cytochromes P-450. (9929510)
1999
29
Individual sensitivity to cytogenetic effects of 1,2:3,4-diepoxybutane in cultured human lymphocytes: influence of glutathione S-transferase M1, P1 and T1 genotypes. (9918129)
1998
30
Interaction of the anxiogenic agent, RS-30199, with 5-HT1A receptors: modulation of sexual activity in the male rat. (9707291)
1998
31
Immunohistochemical studies of proliferating cell nuclear antigen and cathepsin D in transitional cell carcinoma of the urinary bladder. (9392054)
1997
32
Two mutant prion proteins expressed in cultured cells acquire biochemical properties reminiscent of the scrapie isoform. (8643624)
1996
33
Disseminated epithelial tumor cells in bone marrow of patients with esophageal cancer: detection and prognostic significance. (8661632)
1996
34
IL-10 and viral IL-10 prevent IL-4-induced IgE synthesis by inhibiting the accessory cell function of monocytes. (8393044)
1993
35
Association of the v-crk oncogene product with phosphotyrosine-containing proteins and protein kinase activity. (1690891)
1990
36
Handedness and dichotic listening performance in patients with unipolar endogenous depression who received ECT. (7258367)
1981
37
An electron microscopic study of the degranulation of mast cell granules in urticaria pigmentosa. (5907059)
1966

Variations for May-Hegglin Anomaly

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UniProtKB/Swiss-Prot genetic disease variations for May-Hegglin Anomaly:

67
id Symbol AA change Variation ID SNP ID
1MYH9p.Asn93LysVAR_010791
2MYH9p.Arg702CysVAR_010792
3MYH9p.Thr1155IleVAR_010794
4MYH9p.Asp1424HisVAR_010796
5MYH9p.Glu1841LysVAR_010797
6MYH9p.Ala95ThrVAR_018308
7MYH9p.Lys373AsnVAR_018310
8MYH9p.Arg1165LeuVAR_018313
9MYH9p.Asp1424AsnVAR_018316
10MYH9p.Asp1424TyrVAR_018317

Clinvar genetic disease variations for May-Hegglin Anomaly:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.5(MYH9): c.279C> G (p.Asn93Lys)single nucleotide variantPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
4MYH9NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
5MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
6MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicrs587776808GRCh37Chr 22, 36678776: 36678776
7MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
8MYH9MYH9, 21-BP DELdeletionPathogenic
9MYH9MYH9, 21-BP DUPduplicationPathogenic

Expression for genes affiliated with May-Hegglin Anomaly

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Search GEO for disease gene expression data for May-Hegglin Anomaly.

Pathways for genes affiliated with May-Hegglin Anomaly

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Pathways related to May-Hegglin Anomaly according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1MYH10, MYH9
2
Show member pathways
9.1MYH10, MYH9
3
Show member pathways
9.1MYH10, MYH9
4
Show member pathways
9.1MYH10, MYH9
5
Show member pathways
9.1MYH10, MYH9
6
Show member pathways
9.1MYH10, MYH9
7
Show member pathways
9.1MYH10, MYH9
8
Show member pathways
9.1MYH10, MYH9
99.1MYH10, MYH9
10
Show member pathways
9.1MYH10, MYH9
11
Show member pathways
9.1MYH10, MYH9
12
Show member pathways
9.1MYH10, MYH9

GO Terms for genes affiliated with May-Hegglin Anomaly

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Cellular components related to May-Hegglin Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:00164599.4MYH10, MYH9
2actin cytoskeletonGO:00156299.1MYH10, MYH9
3spindleGO:00058198.8MYH10, MYH9

Biological processes related to May-Hegglin Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actomyosin structure organizationGO:00310329.4MYH10, MYH9
2metabolic processGO:00081529.1MYH10, MYH9

Molecular functions related to May-Hegglin Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.1MYH10, MYH9

Sources for May-Hegglin Anomaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet