MCID: MYH001
MIFTS: 45

May-Hegglin Anomaly

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for May-Hegglin Anomaly

MalaCards integrated aliases for May-Hegglin Anomaly:

Name: May-Hegglin Anomaly 53 71 28 13 51
Macrothrombocytopenia with Leukocyte Inclusions 53 72 71
Dohle Leukocyte Inclusions with Giant Platelets 53 71
Bdplt6 53 71
Mha 53 71
Bleeding Disorder, Platelet-Type, 6; Bdplt6 53
Bleeding Disorder, Platelet-Type, 6 53
Bleeding Disorder Platelet-Type 6 71
Sebastian Syndrome 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
most common inherited giant platelet disorder


HPO:

31
may-hegglin anomaly:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for May-Hegglin Anomaly

OMIM : 53 May-Hegglin anomaly is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. About 25 to 50% of affected individuals have mild to moderate episodic bleeding (summary by Kelley et al., 2000). There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with May-Hegglin anomaly. Fechtner syndrome (153640) has the platelet defect accompanied by nephritis, hearing loss, and eye abnormalities, mostly cataracts. Epstein syndrome (153650) has the platelet defect, deafness, and nephritis, but does not have cataract and lacks leukocyte inclusion bodies on classic staining of peripheral blood smears. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (301050). Sebastian syndrome (605249) is the most similar to May-Hegglin anomaly, but has a different ultrastructural appearance of the leukocyte inclusions. In MHA, the inclusions are composed of clusters of ribosomes oriented along parallel microfilaments, whereas in Sebastian syndrome, the leukocyte inclusions are composed of highly dispersed filaments and few ribosomes. Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Fechtner, Sebastian, and Epstein syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' (155100)

MalaCards based summary : May-Hegglin Anomaly, also known as macrothrombocytopenia with leukocyte inclusions, 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 kidney.

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 May–Hegglin anomaly (MHA), also known as Döhle leukocyte inclusions with giant platelets and... more...

Related Diseases for May-Hegglin Anomaly

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 sebastian syndrome 11.6
2 fechtner syndrome 11.5
3 epstein syndrome 11.5
4 myh9 related thrombocytopenia 11.4
5 bernard-soulier syndrome 11.0
6 autosomal dominant macrothrombocytopenia 10.2
7 myh-9 related disease 10.1
8 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
9 stroke, ischemic 10.0
10 thrombosis 10.0
11 coronary thrombosis 10.0
12 glossitis 10.0
13 pharyngitis 10.0
14 purpura 10.0
15 cerebritis 10.0
16 hypotonia 10.0

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 via clinical synopsis from OMIM:

53
Hematology:
thrombocytopenia
giant platelets
mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia)
sky-blue leukocyte inclusion bodies (dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments

CardiovascularHeart:
myocardial infarction (secondary to coronary artery thrombosis)

LaboratoryAbnormalities:
prolonged bleeding time
thrombocytopenia, mild-moderate (60-100 x 10(9)/l)
median mean platelet volume (mpv) 12.5fl
normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

GenitourinaryKidneys:
no kidney disease


Clinical features from OMIM:

155100

Human phenotypes related to May-Hegglin Anomaly:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 myocardial infarction 31 HP:0001658
2 abnormal thrombosis 31 HP:0001977
3 thrombocytopenia 31 HP:0001873
4 epistaxis 31 HP:0000421
5 bruising susceptibility 31 HP:0000978
6 prolonged bleeding time 31 HP:0003010
7 menorrhagia 31 HP:0000132
8 giant platelets 31 HP:0001902
9 neutrophil inclusion bodies 31 HP:0008264

Drugs & Therapeutics for May-Hegglin Anomaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
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:

# Genetic test Affiliating Genes
1 May-Hegglin Anomaly 28 MYH9

Anatomical Context for May-Hegglin Anomaly

MalaCards organs/tissues related to May-Hegglin Anomaly:

38
Eye, Neutrophil, Kidney, Testes

Publications for May-Hegglin Anomaly

Articles related to May-Hegglin Anomaly:

(show all 43)
# Title Authors Year
1
May Hegglin Anomaly ( 28722981 )
2017
2
Subarachnoid Hemorrhage Revealing Moyamoya Syndrome in a Patient With May-Hegglin Anomaly. ( 28859027 )
2017
3
Epidural anesthesia for labor and delivery in a patient with May-Hegglin anomaly: a case report. ( 28496360 )
2017
4
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
5
MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience. ( 27614228 )
2016
6
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. ( 23759689 )
2013
7
May-Hegglin anomaly and pregnancy: a systematic review. ( 23811802 )
2013
8
Transfusion medicine illustrated: May-Hegglin anomaly in a patient with human immunodeficiency virus infection: relevance of the peripheral blood film examination. ( 24010133 )
2013
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: rare entity with review of literature. ( 23450942 )
2012
11
May-Hegglin anomaly. ( 22351964 )
2012
12
First report of reproductive assistance in a woman affected by May-Hegglin anomaly. ( 22037684 )
2012
13
Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly. ( 22136472 )
2011
14
Management of May-Hegglin anomaly referred for coronary artery bypass. ( 21612329 )
2011
15
May-Hegglin anomaly in a dog. ( 21554370 )
2011
16
The first report of homozygous May-Hegglin anomaly E1841K mutation. ( 21083612 )
2011
17
A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis. ( 21329637 )
2011
18
The May-Hegglin anomaly in a kidney transplant recipient. ( 28657035 )
2010
19
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. ( 19630815 )
2009
20
[A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism]. ( 19954613 )
2009
21
[May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]. ( 19227191 )
2009
22
The May-Hegglin anomaly. ( 19500132 )
2009
23
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. ( 19372343 )
2009
24
May-Hegglin anomaly: morphologic and clinical manifestations. ( 19367252 )
2009
25
[Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly]. ( 19110523 )
2008
26
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). ( 18781047 )
2008
27
Historical hematology: May-Hegglin anomaly. ( 17975807 )
2008
28
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. ( 17392504 )
2007
29
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. ( 16642488 )
2006
30
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. ( 16044442 )
2005
31
[May-Hegglin anomaly--from genome research to clinical laboratory]. ( 14560660 )
2003
32
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
33
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. ( 12649151 )
2003
34
[Immunofluorescence localization of inclusion and identification of nonmuscle myosin heavy chain IIA in neutrophils of May-Hegglin anomaly patients]. ( 12930685 )
2003
35
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. ( 12217806 )
2002
36
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. ( 12237319 )
2002
37
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ( 11159552 )
2001
38
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
39
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May- Hegglin anomaly. ( 10973260 )
2000
40
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. ( 10914687 )
2000
41
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. ( 10973259 )
2000
42
Coronary thrombosis in a patient with May-Hegglin anomaly. ( 1850954 )
1991
43
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:

71
# 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
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 MYH10 MYH9
2
Show member pathways
12.03 MYH10 MYH9
3 12.01 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
Show member pathways
11.6 MYH10 MYH9
10 11.39 MYH10 MYH9
11
Show member pathways
11.02 MYH10 MYH9
12 10.56 MYH10 MYH9

GO Terms for May-Hegglin Anomaly

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

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.4 MYH10 MYH9
2 myosin complex GO:0016459 9.37 MYH10 MYH9
3 cleavage furrow GO:0032154 9.32 MYH10 MYH9
4 stress fiber GO:0001725 9.26 MYH10 MYH9
5 actomyosin GO:0042641 9.16 MYH10 MYH9
6 myosin II complex GO:0016460 8.96 MYH10 MYH9
7 myosin II filament GO:0097513 8.62 MYH10 MYH9

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.26 MYH10 MYH9
2 regulation of cell shape GO:0008360 9.16 MYH10 MYH9
3 actomyosin structure organization GO:0031032 8.96 MYH10 MYH9
4 actin filament-based movement GO:0030048 8.62 MYH10 MYH9

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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