MCID: MYH001
MIFTS: 41

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 50 23 68 25 12 48
Dohle Leukocyte Inclusions with Giant Platelets 23 68
Macrothrombocytopenia with Leukocyte Inclusions 23 68
Bleeding Disorder Platelet-Type 6 68
 
Hegglin Disease 23
Bdplt6 68
Mha 68

Characteristics:

HPO:

62
may-hegglin anomaly:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 155100
MedGen35 C0340978
MeSH37 D013921

Summaries for May-Hegglin Anomaly

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OMIM:50 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 sebastian syndrome and myh9 related thrombocytopenia, and has symptoms including menorrhagia, epistaxis and bruising susceptibility. An important gene associated with May-Hegglin Anomaly is MYH9 (Myosin Heavy Chain 9), and among its related pathways are EPH-Ephrin signaling and Cytoskeletal Signaling. Affiliated tissues include eye, neutrophil and testes.

UniProtKB/Swiss-Prot:68 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
1sebastian syndrome30.7MYH10, MYH9
2myh9 related thrombocytopenia11.4
3fechtner syndrome10.8
4epstein syndrome10.7
5autosomal dominant macrothrombocytopenia10.3
6myh9-related disorders10.2
7bernard-soulier syndrome, type c10.0
8coronary thrombosis10.0
9glossitis10.0
10pharyngitis10.0
11purpura10.0
12cerebritis10.0
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 menorrhagia HP:0000132
2 epistaxis HP:0000421
3 bruising susceptibility HP:0000978
4 myocardial infarction HP:0001658
5 thrombocytopenia HP:0001873
6 giant platelets HP:0001902
7 abnormal thrombosis HP:0001977
8 prolonged bleeding time HP:0003010
9 neutrophil inclusion bodies HP:0008264

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
2Eltrombopag for Inherited ThrombocytopeniasRecruitingNCT02422394Phase 2
3Phenotypic 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 Anomaly25 23 MYH9

Anatomical Context for May-Hegglin Anomaly

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MalaCards organs/tissues related to May-Hegglin Anomaly:

34
Eye, Neutrophil, Testes

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 39)
idTitleAuthorsYear
1
Macrothrombocytopenia With DAPhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease. (27353381)
2016
2
MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience. (27614228)
2016
3
May-Hegglin anomaly and pregnancy: a systematic review. (23811802)
2013
4
Transfusion medicine illustrated: May-Hegglin anomaly in a patient with human immunodeficiency virus infection: relevance of the peripheral blood film examination. (24010133)
2013
5
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. (23759689)
2013
6
May-Hegglin anomaly. (22351964)
2012
7
First report of reproductive assistance in a woman affected by May-Hegglin anomaly. (22037684)
2012
8
May hegglin anomaly: rare entity with review of literature. (23450942)
2012
9
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. (22477015)
2012
10
Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly. (22136472)
2011
11
May-Hegglin anomaly in a dog. (21554370)
2011
12
The first report of homozygous May-Hegglin anomaly E1841K mutation. (21083612)
2011
13
Management of May-Hegglin anomaly referred for coronary artery bypass. (21612329)
2011
14
A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis. (21329637)
2011
15
A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism]. (19954613)
2009
16
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. (19372343)
2009
17
The May-Hegglin anomaly. (19500132)
2009
18
May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]. (19227191)
2009
19
May-Hegglin anomaly: morphologic and clinical manifestations. (19367252)
2009
20
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. (19630815)
2009
21
Historical hematology: May-Hegglin anomaly. (17975807)
2008
22
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). (18781047)
2008
23
Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly]. (19110523)
2008
24
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. (17392504)
2007
25
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. (16642488)
2006
26
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. (16044442)
2005
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
Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients]. (12930685)
2003
30
May-Hegglin anomaly--from genome research to clinical laboratory]. (14560660)
2003
31
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)
2002
32
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)
2002
33
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)
2001
34
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
35
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. (10973260)
2000
36
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)
2000
37
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. (10914687)
2000
38
Coronary thrombosis in a patient with May-Hegglin anomaly. (1850954)
1991
39
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:

68
id Symbol AA change Variation ID SNP ID
1MYH9p.Asn93LysVAR_010791rs121913655
2MYH9p.Arg702CysVAR_010792rs80338826
3MYH9p.Thr1155IleVAR_010794rs121913656
4MYH9p.Asp1424HisVAR_010796rs80338831
5MYH9p.Glu1841LysVAR_010797rs80338834
6MYH9p.Ala95ThrVAR_018308
7MYH9p.Lys373AsnVAR_018310
8MYH9p.Arg1165LeuVAR_018313rs80338830
9MYH9p.Asp1424AsnVAR_018316rs80338831
10MYH9p.Asp1424TyrVAR_018317rs80338831

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
8MYH9NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del)deletionPathogenicrs876661302GRCh37Chr 22, 36692946: 36692966
9MYH9NM_002473.5(MYH9)duplicationPathogenicrs876661303GRCh37Chr 22, 36692946: 36692966

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
29.1MYH10, 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
9
Show member pathways
9.1MYH10, MYH9
109.1MYH10, MYH9
119.1MYH10, 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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1myosin II filamentGO:00975139.8MYH10, MYH9
2myosin II complexGO:00164609.7MYH10, MYH9
3myosin complexGO:00164599.6MYH10, MYH9
4stress fiberGO:00017259.5MYH10, MYH9
5actomyosinGO:00426419.4MYH10, MYH9
6cleavage furrowGO:00321549.4MYH10, MYH9
7spindleGO:00058199.3MYH10, MYH9
8actin cytoskeletonGO:00156299.2MYH10, MYH9
9cell cortexGO:00059389.1MYH10, MYH9
10neuromuscular junctionGO:00315949.0MYH10, MYH9
11brush borderGO:00059038.8MYH10, MYH9

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

idNameGO IDScoreTop Affiliating Genes
1actin filament-based movementGO:00300489.7MYH10, MYH9
2actomyosin structure organizationGO:00310329.6MYH10, MYH9
3in utero embryonic developmentGO:00017019.5MYH10, MYH9
4regulation of cell shapeGO:00083609.2MYH10, MYH9
5cell adhesionGO:00071559.1MYH10, MYH9

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

idNameGO IDScoreTop Affiliating Genes
1microfilament motor activityGO:00001469.8MYH10, MYH9
2actin-dependent ATPase activityGO:00308989.8MYH10, MYH9
3ADP bindingGO:00435319.5MYH10, MYH9
4actin filament bindingGO:00510159.4MYH10, MYH9
5calmodulin bindingGO:00055169.3MYH10, MYH9
6actin bindingGO:00037799.1MYH10, MYH9

Sources for May-Hegglin Anomaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet