MCID: MYH001
MIFTS: 40

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, prostate and neutrophil.

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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Diseases related to May-Hegglin Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1fechtner syndrome30.6MYH10, MYH9
2myh9 related thrombocytopenia11.4
3sebastian syndrome10.9
4epstein syndrome10.7
5autosomal dominant macrothrombocytopenia10.3
6bernard-soulier syndrome, type c10.1
7coronary thrombosis10.0
8glossitis10.0
9pharyngitis10.0
10purpura10.0
11cerebritis10.0
12myh9-related disorders10.0
13hypotonia10.0

Graphical network of 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, Prostate, Neutrophil, Breast, T cells, Ovary, B cells

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
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. (23759689)
2013
2
May-Hegglin anomaly and pregnancy: a systematic review. (23811802)
2013
3
Transfusion medicine illustrated: May-Hegglin anomaly in a patient with human immunodeficiency virus infection: relevance of the peripheral blood film examination. (24010133)
2013
4
May-Hegglin anomaly. (22351964)
2012
5
First report of reproductive assistance in a woman affected by May-Hegglin anomaly. (22037684)
2012
6
May hegglin anomaly: rare entity with review of literature. (23450942)
2012
7
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. (22477015)
2012
8
The first report of homozygous May-Hegglin anomaly E1841K mutation. (21083612)
2011
9
Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly. (22136472)
2011
10
Management of May-Hegglin anomaly referred for coronary artery bypass. (21612329)
2011
11
May-Hegglin anomaly in a dog. (21554370)
2011
12
A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis. (21329637)
2011
13
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. (19372343)
2009
14
A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism]. (19954613)
2009
15
The May-Hegglin anomaly. (19500132)
2009
16
May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]. (19227191)
2009
17
May-Hegglin anomaly: morphologic and clinical manifestations. (19367252)
2009
18
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. (19630815)
2009
19
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). (18781047)
2008
20
Historical hematology: May-Hegglin anomaly. (17975807)
2008
21
Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly]. (19110523)
2008
22
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. (17392504)
2007
23
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. (16642488)
2006
24
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. (16044442)
2005
25
Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients]. (12930685)
2003
26
May-Hegglin anomaly--from genome research to clinical laboratory]. (14560660)
2003
27
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)
2003
28
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)
2003
29
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)
2002
30
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)
2002
31
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)
2001
32
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)
2001
33
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)
2000
34
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. (10914687)
2000
35
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. (10973260)
2000
36
Coronary thrombosis in a patient with May-Hegglin anomaly. (1850954)
1991
37
MAY-HEGGLIN ANOMALY ASSOCIATED WITH GLOSSITIS, PHARYNGITIS AND MUSCULAR HYPOTONIA. (14208037)
1964

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