|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities.
|
29996171 |
2019 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MYH9-macrothrombocytopenia caused by a novel variant (E1421K) initially presenting as apparent neonatal alloimmune thrombocytopenia.
|
29286575 |
2018 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The final two cases (MYH9 associated macrothrombocytopenia associated with multiple congenital anomalies; atypical juvenile myelomonocytic leukaemia associated with a KRAS mutation) highlight the utility of NGS where the diagnosis is less certain, or where there is an unusual phenotype.
|
25703294 |
2016 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MIIA is diffuse in the large platelets of a MYH9-RD patient with macrothrombocytopenia and is also diffuse in normal pre/proplatelets treated with inhibitor that blocks in vitro division to small platelets.
|
25395423 |
2015 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
MYH9-RD patients have macrothrombocytopenia and granulocyte inclusions (pathognomonic sign of the disease) containing wild-type and mutant NMMHC-IIA.
|
24890873 |
2015 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition.
|
24165359 |
2013 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy.
|
23123319 |
2013 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, seven patients with the familiar macrothrombocytopenia due to alterations of the MYH9 gene have been reported to have had thrombosis (five myocardial infractions, one ischemic stroke, one deep vein thrombosis and one portal vein thrombosis).
|
23037321 |
2013 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The loss of myosin IIA function owing to MYH9 mutations promotes proplatelet formation and may trigger precocious and premature platelet release, resulting in macrothrombocytopenia.
|
20601875 |
2010 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities of the MYH9 locus also underlie rare autosomal dominant diseases such as May-Hegglin anomaly, and Sebastian, Epstein (EPS), and Fechtner (FTNS) syndromes that are characterized by macrothrombocytopenia and cytoplasmic inclusion bodies in granulocytes.
|
20200500 |
2010 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic variation in MYH9, encoding non-muscle heavy chain IIA, has been recognized for over a decade as the cause of an autosomal dominant syndrome characterized by macrothrombocytopenia, neutrophil inclusions, and glomerular pathology.
|
20588287 |
2010 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, we tested the hypothesis that a mutation within MYH9 is responsible for the autosomal dominant inheritance of MTCP and hearing loss in the Ghent family.
|
19285578 |
2009 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, 31 mutations of the MYH9 gene leading to macrothrombocytopenia have been identified, of which the upstream mutations up to amino acid approximately 1400 are more likely associated with syndromic manifestations than the downstream mutations.
|
19408192 |
2009 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MYH9 disorders such as May-Hegglin anomaly are characterized by macrothrombocytopenia and cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA).
|
18192507 |
2008 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Interestingly, MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocytes inclusion, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract.
|
17975807 |
2008 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
|
17655694 |
2007 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inherited mutations in the Myh9 gene have been linked to non-syndromic hereditary hearing impairment DFNA17 as well as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some patients deafness.
|
16630581 |
2006 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Altogether these results indicate that haploinsufficiency of NMMHC-IIA in megakaryocytic lineage is the mechanism of macrothrombocytopenia consequent to MYH9 mutations, whereas in granulocytes a dominant-negative effect of mutant allele is involved in the formation of inclusion bodies.
|
16162639 |
2005 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Nonmuscle myosin heavy chain II-A is responsible for MYH9-related disease, which is characterized by macrothrombocytopenia, granulocyte inclusions, deafness, cataracts, and renal failure.
|
15177565 |
2004 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice.
|
15555549 |
2004 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The identification of a mutation in the MYH9 gene in hereditary macrothrombocytopenia has established a distinct entity proposed as "MYH9 disorders," which previously have often been misdiagnosed as chronic immune thrombocytopenic purpura.
|
15342975 |
2004 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The hereditary macrothrombocytopenia and hearing loss in the previously reported family is due to a mutation in MYH9 gene.
|
12621333 |
2003 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The expression of MYH9 in the fetal and mature human kidney was studied, and the 40 coding exons of the gene were screened by single-strand conformation polymorphism in 12 families presenting with the association of MTCP and nephropathy.
|
11752022 |
2002 |
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
EPTS macrothrombocytopenia is similar to that described in FTNS, May-Hegglin anomaly (MHA), and Sebastian syndrome (SBS), three disorders caused by mutations in the nonmuscle heavy chain myosin IIA ( MYH9).
|
11935325 |
2002 |
|
Macrothrombocytopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These 'MYH9-related' diseases are inherited as an autosomal dominant trait and are characterized by a variable expressivity of clinical features, including macrothrombocytopenia, deafness, nephrites, cataract, and Döhle-like leukocyte inclusions.
|
11943476 |
2002 |