MCID: MYH001
MIFTS: 39

May-Hegglin Anomaly malady

Genetic diseases (common) category

Aliases & Classifications for May-Hegglin Anomaly

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

May-Hegglin Anomaly, Aliases & Descriptions:

Name: May-Hegglin Anomaly 45 10 43
May-Hegglin Syndrome 20 22
 
Sebastian Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 155100

Summaries for May-Hegglin Anomaly

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OMIM:45 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 may-hegglin syndrome, is related to sebastian syndrome and fechtner 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 Sweet Taste Signaling and Actin Nucleation by ARP-WASP Complex. The compounds (+-)-blebbistatin and (r)-(+)-blebbistatin have been mentioned in the context of this disorder. Affiliated tissues include eye, neutrophil and testes.

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 syndrome10.7
2fechtner syndrome10.6
3epstein syndrome10.5
4autosomal dominant macrothrombocytopenia10.5
5bernard-soulier syndrome, type c10.2
6pharyngitis10.2
7coronary thrombosis10.2
8cerebritis10.2
9glossitis10.2
10purpura10.2
11myh9-related disorders10.2
12myh9 related thrombocytopenia10.2
13hypotonia10.2

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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Drug clinical trials:

Search ClinicalTrials for May-Hegglin Anomaly

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 Anomaly20 22 MYH9

Anatomical Context for May-Hegglin Anomaly

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MalaCards organs/tissues related to May-Hegglin Anomaly:

31
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 24)
idTitleAuthorsYear
1
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. (23759689)
2013
2
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. (22477015)
2012
3
The first report of homozygous May-Hegglin anomaly E1841K mutation. (21083612)
2011
4
A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism]. (19954613)
2009
5
May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]. (19227191)
2009
6
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. (19630815)
2009
7
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). (18781047)
2008
8
Historical hematology: May-Hegglin anomaly. (17975807)
2008
9
Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly]. (19110523)
2008
10
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. (16642488)
2006
11
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. (16044442)
2005
12
Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients]. (12930685)
2003
13
May-Hegglin anomaly--from genome research to clinical laboratory]. (14560660)
2003
14
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
15
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)
2003
16
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)
2002
17
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)
2002
18
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)
2001
19
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
20
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)
2000
21
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. (10914687)
2000
22
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. (10973260)
2000
23
Coronary thrombosis in a patient with May-Hegglin anomaly. (1850954)
1991
24
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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.4(MYH9): c.279C> G (p.Asn93Lys)single nucleotide variantPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
5MYH9NM_002473.4(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
6MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicGRCh37Chr 22, 36678776: 36678776
8MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
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 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MYH9, MYH10
2
Show member pathways
9.1MYH10, MYH9
3
Show member pathways
9.1MYH10, MYH9
4
Show member pathways
9.1MYH9, MYH10
5
Show member pathways
9.1MYH9, MYH10
6
Show member pathways
9.1MYH9, MYH10
79.1MYH10, MYH9
8
Show member pathways
9.1MYH9, MYH10
99.1MYH9, MYH10
10
Show member pathways
9.1MYH9, MYH10
11
Show member pathways
9.1MYH10, MYH9
12
Show member pathways
9.1MYH10, MYH9
13
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.1MYH10, MYH9
14
Show member pathways
9.1MYH9, MYH10

Compounds for genes affiliated with May-Hegglin Anomaly

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

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin599.1MYH10, MYH9
2(r)-(+)-blebbistatin599.1MYH10, MYH9
3(s)-(-)-blebbistatin599.0MYH10, MYH9
4bts598.8MYH10, 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 II filamentGO:00975139.3MYH10, MYH9
2myosin II complexGO:00164609.2MYH10, MYH9
3actomyosinGO:00426419.2MYH10, MYH9
4cleavage furrowGO:00321549.1MYH9, MYH10
5spindleGO:00058199.1MYH10, MYH9
6neuromuscular junctionGO:00315949.0MYH10, MYH9
7stress fiberGO:00017258.8MYH10, MYH9

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

idNameGO IDScoreTop Affiliating Genes
1actin filament-based movementGO:00300489.2MYH10, MYH9
2actomyosin structure organizationGO:00310329.2MYH10, MYH9
3regulation of cell shapeGO:00083609.1MYH10, MYH9
4axon guidanceGO:00074119.1MYH10, MYH9
5ATP catabolic processGO:00062009.0MYH9, MYH10
6in utero embryonic developmentGO:00017018.8MYH10, MYH9

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

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.2MYH10, MYH9
2microfilament motor activityGO:00001469.2MYH10, MYH9
3ADP bindingGO:00435319.1MYH10, MYH9
4actin bindingGO:00037799.1MYH10, MYH9
5actin filament bindingGO:00510159.0MYH9, MYH10
6calmodulin bindingGO:00055168.8MYH10, MYH9

Products for genes affiliated with May-Hegglin Anomaly

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Sources for May-Hegglin Anomaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet