MCID: MYH001
MIFTS: 43

May-Hegglin Anomaly malady

Genetic diseases (common), Blood diseases categories

Aliases & Classifications for May-Hegglin Anomaly

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Aliases & Descriptions for May-Hegglin Anomaly:

Name: May-Hegglin Anomaly 49 11 22 47 24 67
Dohle Leukocyte Inclusions with Giant Platelets 22 67
Macrothrombocytopenia with Leukocyte Inclusions 22 67
Bleeding Disorder Platelet-Type 6 67
 
Sebastian Syndrome 65
Hegglin Disease 22
Bdplt6 67
Mha 67


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 sebastian syndrome, and has symptoms including autosomal dominant inheritance, menorrhagia and epistaxis. An important gene associated with May-Hegglin Anomaly is MYH9 (Myosin, Heavy Chain 9, Non-Muscle), and among its related pathways are Cytoskeletal Signaling and EPH-Ephrin signaling. Affiliated tissues include eye, neutrophil and testes.

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 14)
idRelated DiseaseScoreTop Affiliating Genes
1fechtner syndrome30.6MYH10, MYH9
2sebastian syndrome10.7
3epstein syndrome10.5
4autosomal dominant macrothrombocytopenia10.5
5glomerulosclerosis10.4
6bernard-soulier syndrome, type c10.3
7pharyngitis10.3
8coronary thrombosis10.3
9cerebritis10.3
10glossitis10.3
11purpura10.3
12myh9-related disorders10.3
13myh9 related thrombocytopenia10.3
14hypotonia10.3

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 10)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 menorrhagia HP:0000132
3 epistaxis HP:0000421
4 bruising susceptibility HP:0000978
5 myocardial infarction HP:0001658
6 thrombocytopenia HP:0001873
7 giant platelets HP:0001902
8 abnormal thrombosis HP:0001977
9 prolonged bleeding time HP:0003010
10 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
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 24 MYH9

Anatomical Context for May-Hegglin Anomaly

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MalaCards organs/tissues related to May-Hegglin Anomaly:

33
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 36)
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
Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients]. (12930685)
2003
25
May-Hegglin anomaly--from genome research to clinical laboratory]. (14560660)
2003
26
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
27
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)
2003
28
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)
2002
29
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)
2002
30
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)
2001
31
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
32
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)
2000
33
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. (10914687)
2000
34
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. (10973260)
2000
35
Coronary thrombosis in a patient with May-Hegglin anomaly. (1850954)
1991
36
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.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.5(MYH9): c.279C> G (p.Asn93Lys)single nucleotide variantPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
5MYH9NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
6MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicrs587776808GRCh37Chr 22, 36678776: 36678776
8MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
9MYH9MYH9, 21-BP DELdeletionPathogenic
10MYH9MYH9, 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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MYH10, 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
89.1MYH10, MYH9
9
Show member pathways
9.1MYH10, MYH9
10
Salmonella infection (KEGG)
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 complexGO:00164609.7MYH10, MYH9
2myosin II filamentGO:00975139.7MYH10, MYH9
3cleavage furrowGO:00321549.6MYH10, MYH9
4stress fiberGO:00017259.6MYH10, MYH9
5myosin complexGO:00164599.5MYH10, MYH9
6neuromuscular junctionGO:00315949.5MYH10, MYH9
7spindleGO:00058199.4MYH10, MYH9
8actomyosinGO:00426419.1MYH10, MYH9
9actin cytoskeletonGO:00156299.1MYH10, MYH9
10cell cortexGO:00059389.0MYH10, MYH9
11brush borderGO:00059038.8MYH10, MYH9

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1actin filament-based movementGO:00300489.7MYH10, MYH9
2ephrin receptor signaling pathwayGO:00480139.6MYH10, MYH9
3actomyosin structure organizationGO:00310329.6MYH10, MYH9
4in utero embryonic developmentGO:00017019.5MYH10, MYH9
5regulation of cell shapeGO:00083609.5MYH10, MYH9
6cell adhesionGO:00071559.2MYH10, MYH9
7axon guidanceGO:00074119.1MYH10, MYH9

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.7MYH10, MYH9
2microfilament motor activityGO:00001469.7MYH10, MYH9
3ADP bindingGO:00435319.5MYH10, MYH9
4actin filament bindingGO:00510159.4MYH10, MYH9
5calmodulin bindingGO:00055169.3MYH10, MYH9
6actin bindingGO:00037799.1MYH10, MYH9
7motor activityGO:00037748.8MYH10, 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