MHA
MCID: MYH001
MIFTS: 43

May-Hegglin Anomaly (MHA) malady

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for May-Hegglin Anomaly

Aliases & Descriptions for May-Hegglin Anomaly:

Name: May-Hegglin Anomaly 54 24 66 29 13 52
Dohle Leukocyte Inclusions with Giant Platelets 24 66
Macrothrombocytopenia with Leukocyte Inclusions 24 66
Bleeding Disorder Platelet-Type 6 66
Sebastian Syndrome 69
Hegglin Disease 24
Bdplt6 66
Mha 66

Characteristics:

HPO:

32
may-hegglin anomaly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 155100
MedGen 40 C0340978
MeSH 42 D013921

Summaries for May-Hegglin Anomaly

OMIM : 54 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 fechtner syndrome, and has symptoms including myocardial infarction, abnormal thrombosis and thrombocytopenia. An important gene associated with May-Hegglin Anomaly is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include eye, neutrophil and testes.

UniProtKB/Swiss-Prot : 66 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

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

(show all 13)
id Related Disease Score Top Affiliating Genes
1 sebastian syndrome 32.0 MYH10 MYH9
2 fechtner syndrome 11.4
3 epstein syndrome 11.4
4 myh9 related thrombocytopenia 11.3
5 bernard-soulier syndrome, type c 10.9
6 autosomal dominant macrothrombocytopenia 10.1
7 thrombosis 9.9
8 coronary thrombosis 9.9
9 glossitis 9.9
10 pharyngitis 9.9
11 purpura 9.9
12 cerebritis 9.9
13 hypotonia 9.9

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



Diseases related to May-Hegglin Anomaly

Symptoms & Phenotypes for May-Hegglin Anomaly

Symptoms by clinical synopsis from OMIM:

155100

Clinical features from OMIM:

155100

Human phenotypes related to May-Hegglin Anomaly:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 myocardial infarction 32 HP:0001658
2 abnormal thrombosis 32 HP:0001977
3 thrombocytopenia 32 HP:0001873
4 epistaxis 32 HP:0000421
5 bruising susceptibility 32 HP:0000978
6 prolonged bleeding time 32 HP:0003010
7 menorrhagia 32 HP:0000132
8 giant platelets 32 HP:0001902
9 neutrophil inclusion bodies 32 HP:0008264

Drugs & Therapeutics for May-Hegglin Anomaly

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2
3 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for May-Hegglin Anomaly

Genetic Tests for May-Hegglin Anomaly

Genetic tests related to May-Hegglin Anomaly:

id Genetic test Affiliating Genes
1 May-Hegglin Anomaly 29 24 MYH9

Anatomical Context for May-Hegglin Anomaly

MalaCards organs/tissues related to May-Hegglin Anomaly:

39
Eye, Neutrophil, Testes

Publications for May-Hegglin Anomaly

Articles related to May-Hegglin Anomaly:

(show all 40)
id Title Authors Year
1
Epidural anesthesia for labor and delivery in a patient with May-Hegglin anomaly: a case report. ( 28496360 )
2017
2
MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience. ( 27614228 )
2016
3
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
4
May-Hegglin anomaly and pregnancy: a systematic review. ( 23811802 )
2013
5
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. ( 23759689 )
2013
6
Transfusion medicine illustrated: May-Hegglin anomaly in a patient with human immunodeficiency virus infection: relevance of the peripheral blood film examination. ( 24010133 )
2013
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
May-Hegglin anomaly. ( 22351964 )
2012
11
May-Hegglin anomaly in a dog. ( 21554370 )
2011
12
Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly. ( 22136472 )
2011
13
A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis. ( 21329637 )
2011
14
The first report of homozygous May-Hegglin anomaly E1841K mutation. ( 21083612 )
2011
15
Management of May-Hegglin anomaly referred for coronary artery bypass. ( 21612329 )
2011
16
May-Hegglin anomaly: morphologic and clinical manifestations. ( 19367252 )
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
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. ( 19630815 )
2009
20
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. ( 19372343 )
2009
21
[A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism]. ( 19954613 )
2009
22
[Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly]. ( 19110523 )
2008
23
Historical hematology: May-Hegglin anomaly. ( 17975807 )
2008
24
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). ( 18781047 )
2008
25
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. ( 17392504 )
2007
26
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. ( 16642488 )
2006
27
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. ( 16044442 )
2005
28
[Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients]. ( 12930685 )
2003
29
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
30
[May-Hegglin anomaly--from genome research to clinical laboratory]. ( 14560660 )
2003
31
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. ( 12649151 )
2003
32
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. ( 12217806 )
2002
33
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. ( 12237319 )
2002
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
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ( 11159552 )
2001
36
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. ( 10914687 )
2000
37
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. ( 10973260 )
2000
38
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. ( 10973259 )
2000
39
Coronary thrombosis in a patient with May-Hegglin anomaly. ( 1850954 )
1991
40
MAY-HEGGLIN ANOMALY ASSOCIATED WITH GLOSSITIS, PHARYNGITIS AND MUSCULAR HYPOTONIA. ( 14208037 )
1964

Variations for May-Hegglin Anomaly

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

66
id Symbol AA change Variation ID SNP ID
1 MYH9 p.Asn93Lys VAR_010791 rs121913655
2 MYH9 p.Arg702Cys VAR_010792 rs80338826
3 MYH9 p.Thr1155Ile VAR_010794 rs121913656
4 MYH9 p.Asp1424His VAR_010796 rs80338831
5 MYH9 p.Glu1841Lys VAR_010797 rs80338834
6 MYH9 p.Ala95Thr VAR_018308
7 MYH9 p.Lys373Asn VAR_018310
8 MYH9 p.Arg1165Leu VAR_018313 rs80338830
9 MYH9 p.Asp1424Asn VAR_018316 rs80338831
10 MYH9 p.Asp1424Tyr VAR_018317 rs80338831

ClinVar genetic disease variations for May-Hegglin Anomaly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter) single nucleotide variant Pathogenic rs80338835 GRCh37 Chromosome 22, 36678800: 36678800
2 MYH9 NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys) single nucleotide variant Pathogenic rs80338834 GRCh37 Chromosome 22, 36680520: 36680520
3 MYH9 NM_002473.5(MYH9): c.279C> G (p.Asn93Lys) single nucleotide variant Pathogenic rs121913655 GRCh37 Chromosome 22, 36745003: 36745003
4 MYH9 NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile) single nucleotide variant Pathogenic rs121913656 GRCh37 Chromosome 22, 36691572: 36691572
5 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
6 MYH9 NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs) deletion Pathogenic rs587776808 GRCh37 Chromosome 22, 36678776: 36678776
7 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
8 MYH9 NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del) deletion Pathogenic rs876661302 GRCh37 Chromosome 22, 36692946: 36692966
9 MYH9 NM_002473.5(MYH9) duplication Pathogenic rs876661303 GRCh37 Chromosome 22, 36692946: 36692966

Expression for May-Hegglin Anomaly

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

Pathways for May-Hegglin Anomaly

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 MYH10 MYH9
2
Show member pathways
12.03 MYH10 MYH9
3 12.02 MYH10 MYH9
4
Show member pathways
11.97 MYH10 MYH9
5 11.89 MYH10 MYH9
6
Show member pathways
11.75 MYH10 MYH9
7
Show member pathways
11.72 MYH10 MYH9
8
Show member pathways
11.6 MYH10 MYH9
9 11.39 MYH10 MYH9
10
Show member pathways
11.02 MYH10 MYH9
11 10.56 MYH10 MYH9

GO Terms for May-Hegglin Anomaly

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

id Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.48 MYH10 MYH9
2 cell cortex GO:0005938 9.46 MYH10 MYH9
3 brush border GO:0005903 9.43 MYH10 MYH9
4 myosin complex GO:0016459 9.4 MYH10 MYH9
5 neuromuscular junction GO:0031594 9.37 MYH10 MYH9
6 stress fiber GO:0001725 9.32 MYH10 MYH9
7 cleavage furrow GO:0032154 9.26 MYH10 MYH9
8 actomyosin GO:0042641 9.16 MYH10 MYH9
9 myosin II complex GO:0016460 8.96 MYH10 MYH9
10 myosin II filament GO:0097513 8.62 MYH10 MYH9

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.32 MYH10 MYH9
2 in utero embryonic development GO:0001701 9.26 MYH10 MYH9
3 regulation of cell shape GO:0008360 9.16 MYH10 MYH9
4 actomyosin structure organization GO:0031032 8.96 MYH10 MYH9
5 actin filament-based movement GO:0030048 8.62 MYH10 MYH9

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

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.46 MYH10 MYH9
2 actin binding GO:0003779 9.43 MYH10 MYH9
3 ATPase activity GO:0016887 9.4 MYH10 MYH9
4 calmodulin binding GO:0005516 9.37 MYH10 MYH9
5 actin filament binding GO:0051015 9.32 MYH10 MYH9
6 motor activity GO:0003774 9.26 MYH10 MYH9
7 ADP binding GO:0043531 9.16 MYH10 MYH9
8 microfilament motor activity GO:0000146 8.96 MYH10 MYH9
9 actin-dependent ATPase activity GO:0030898 8.62 MYH10 MYH9

Sources for May-Hegglin Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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