MCID: MYH004
MIFTS: 27

Myh9 Related Thrombocytopenia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Myh9 Related Thrombocytopenia

MalaCards integrated aliases for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 53
Myh9-Related Disorder 25 29 6
Sebastian Syndrome 53 73
Fechtner Syndrome 53 73
Epstein Syndrome 53 73
Autosomal Dominant Myh9 Spectrum Disorders 25
Myh9-Related Macrothrombocytopenias 25
Sebastian Platelet Syndrome 53
Myh9 Related Disorders 53
Myh9-Related Disease 37
May-Hegglin Anomaly 53
Myh9rd 25

Classifications:



External Ids:

KEGG 37 H00233

Summaries for Myh9 Related Thrombocytopenia

NIH Rare Diseases : 53 MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition. This condition is inherited in an autosomal dominant fashion.   The following conditions, once thought to be separate, are now known to be part of MYH9RD. Epstein syndromeFechtner syndrome May-Hegglin anomalySebastian syndrome

MalaCards based summary : Myh9 Related Thrombocytopenia, also known as myh9-related disorder, is related to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss and alport syndrome, autosomal dominant. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are Tight junction and Regulation of actin cytoskeleton. Affiliated tissues include kidney, skin and eye.

Genetics Home Reference : 25 MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).

Related Diseases for Myh9 Related Thrombocytopenia

Graphical network of the top 20 diseases related to Myh9 Related Thrombocytopenia:



Diseases related to Myh9 Related Thrombocytopenia

Symptoms & Phenotypes for Myh9 Related Thrombocytopenia

Drugs & Therapeutics for Myh9 Related Thrombocytopenia

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 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Myh9 Related Thrombocytopenia

Genetic Tests for Myh9 Related Thrombocytopenia

Genetic tests related to Myh9 Related Thrombocytopenia:

# Genetic test Affiliating Genes
1 Myh9-Related Disorder 29

Anatomical Context for Myh9 Related Thrombocytopenia

MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

41
Kidney, Skin, Eye, Bone

Publications for Myh9 Related Thrombocytopenia

Articles related to Myh9 Related Thrombocytopenia:

(show all 14)
# Title Authors Year
1
MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder. ( 29996171 )
2018
2
Massive mediastinal enlargement due to extramedullary haematopoiesis in a patient with MYH9-related thrombocytopenia. ( 28516481 )
2017
3
MYH9-Related Thrombocytopenia. ( 28688473 )
2017
4
[Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia]. ( 27577209 )
2016
5
MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience. ( 27614228 )
2016
6
MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. ( 25752999 )
2015
7
Congenital thrombocytopenia with nephritis - The first case of MYH9 related disorder in Serbia. ( 24783421 )
2014
8
Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea. ( 24656038 )
2014
9
First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia. ( 23940247 )
2013
10
Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder? ( 22211851 )
2012
11
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. ( 21833445 )
2011
12
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. ( 19572073 )
2009
13
Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family. ( 16818291 )
2006
14
Genotype-phenotype correlation in MYH9-related thrombocytopenia. ( 16098078 )
2005

Variations for Myh9 Related Thrombocytopenia

ClinVar genetic disease variations for Myh9 Related Thrombocytopenia:

6 (show top 50) (show all 286)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.4876A> G (p.Ile1626Val) single nucleotide variant Benign rs2269529 GRCh37 Chromosome 22, 36684354: 36684354
2 MYH9 NM_002473.5(MYH9): c.4876A> G (p.Ile1626Val) single nucleotide variant Benign rs2269529 GRCh38 Chromosome 22, 36288308: 36288308
3 MYH9 NM_002473.5(MYH9): c.1083C> T (p.Asp361=) single nucleotide variant Benign/Likely benign rs56001030 GRCh37 Chromosome 22, 36715610: 36715610
4 MYH9 NM_002473.5(MYH9): c.1083C> T (p.Asp361=) single nucleotide variant Benign/Likely benign rs56001030 GRCh38 Chromosome 22, 36319565: 36319565
5 MYH9 NM_002473.5(MYH9): c.1108+9C> T single nucleotide variant Benign/Likely benign rs145751072 GRCh37 Chromosome 22, 36715576: 36715576
6 MYH9 NM_002473.5(MYH9): c.1108+9C> T single nucleotide variant Benign/Likely benign rs145751072 GRCh38 Chromosome 22, 36319531: 36319531
7 MYH9 NM_002473.5(MYH9): c.1554+7A> G single nucleotide variant Benign rs3752462 GRCh37 Chromosome 22, 36710183: 36710183
8 MYH9 NM_002473.5(MYH9): c.1554+7A> G single nucleotide variant Benign rs3752462 GRCh38 Chromosome 22, 36314138: 36314138
9 MYH9 NM_002473.5(MYH9): c.1728+10G> A single nucleotide variant Benign rs2413396 GRCh37 Chromosome 22, 36708084: 36708084
10 MYH9 NM_002473.5(MYH9): c.1728+10G> A single nucleotide variant Benign rs2413396 GRCh38 Chromosome 22, 36312039: 36312039
11 MYH9 NM_002473.5(MYH9): c.1729-6C> T single nucleotide variant Benign/Likely benign rs9622375 GRCh37 Chromosome 22, 36705447: 36705447
12 MYH9 NM_002473.5(MYH9): c.1729-6C> T single nucleotide variant Benign/Likely benign rs9622375 GRCh38 Chromosome 22, 36309402: 36309402
13 MYH9 NM_002473.5(MYH9): c.2038-5T> C single nucleotide variant Benign/Likely benign rs8137674 GRCh37 Chromosome 22, 36702102: 36702102
14 MYH9 NM_002473.5(MYH9): c.2038-5T> C single nucleotide variant Benign/Likely benign rs8137674 GRCh38 Chromosome 22, 36306056: 36306056
15 MYH9 NM_002473.5(MYH9): c.2061C> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs143801000 GRCh37 Chromosome 22, 36702074: 36702074
16 MYH9 NM_002473.5(MYH9): c.2061C> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs143801000 GRCh38 Chromosome 22, 36306028: 36306028
17 MYH9 NM_002473.5(MYH9): c.2256T> C (p.Asn752=) single nucleotide variant Benign rs9619601 GRCh37 Chromosome 22, 36700175: 36700175
18 MYH9 NM_002473.5(MYH9): c.2256T> C (p.Asn752=) single nucleotide variant Benign rs9619601 GRCh38 Chromosome 22, 36304129: 36304129
19 MYH9 NM_002473.5(MYH9): c.3100+11G> C single nucleotide variant Benign rs41279999 GRCh37 Chromosome 22, 36694954: 36694954
20 MYH9 NM_002473.5(MYH9): c.3100+11G> C single nucleotide variant Benign rs41279999 GRCh38 Chromosome 22, 36298908: 36298908
21 MYH9 NM_002473.5(MYH9): c.3192C> T (p.Ile1064=) single nucleotide variant Conflicting interpretations of pathogenicity rs144807538 GRCh37 Chromosome 22, 36692969: 36692969
22 MYH9 NM_002473.5(MYH9): c.3192C> T (p.Ile1064=) single nucleotide variant Conflicting interpretations of pathogenicity rs144807538 GRCh38 Chromosome 22, 36296923: 36296923
23 MYH9 NM_002473.5(MYH9): c.3345A> G (p.Glu1115=) single nucleotide variant Benign rs875725 GRCh37 Chromosome 22, 36691691: 36691691
24 MYH9 NM_002473.5(MYH9): c.3345A> G (p.Glu1115=) single nucleotide variant Benign rs875725 GRCh38 Chromosome 22, 36295645: 36295645
25 MYH9 NM_002473.5(MYH9): c.3429T> G (p.Ala1143=) single nucleotide variant Benign rs710181 GRCh37 Chromosome 22, 36691607: 36691607
26 MYH9 NM_002473.5(MYH9): c.3429T> G (p.Ala1143=) single nucleotide variant Benign rs710181 GRCh38 Chromosome 22, 36295561: 36295561
27 MYH9 NM_002473.5(MYH9): c.3838-12C> T single nucleotide variant Benign/Likely benign rs113698937 GRCh37 Chromosome 22, 36689921: 36689921
28 MYH9 NM_002473.5(MYH9): c.3838-12C> T single nucleotide variant Benign/Likely benign rs113698937 GRCh38 Chromosome 22, 36293875: 36293875
29 MYH9 NM_002473.5(MYH9): c.3838-8C> T single nucleotide variant Benign rs145429636 GRCh37 Chromosome 22, 36689917: 36689917
30 MYH9 NM_002473.5(MYH9): c.3838-8C> T single nucleotide variant Benign rs145429636 GRCh38 Chromosome 22, 36293871: 36293871
31 MYH9 NM_002473.5(MYH9): c.4198C> T (p.Arg1400Trp) single nucleotide variant Benign/Likely benign rs76368635 GRCh37 Chromosome 22, 36688178: 36688178
32 MYH9 NM_002473.5(MYH9): c.4198C> T (p.Arg1400Trp) single nucleotide variant Benign/Likely benign rs76368635 GRCh38 Chromosome 22, 36292132: 36292132
33 MYH9 NM_002473.5(MYH9): c.4563C> T (p.His1521=) single nucleotide variant Benign rs11549907 GRCh37 Chromosome 22, 36684980: 36684980
34 MYH9 NM_002473.5(MYH9): c.4563C> T (p.His1521=) single nucleotide variant Benign rs11549907 GRCh38 Chromosome 22, 36288934: 36288934
35 MYH9 NM_002473.5(MYH9): c.4872G> T (p.Ala1624=) single nucleotide variant Benign rs2269530 GRCh37 Chromosome 22, 36684358: 36684358
36 MYH9 NM_002473.5(MYH9): c.4872G> T (p.Ala1624=) single nucleotide variant Benign rs2269530 GRCh38 Chromosome 22, 36288312: 36288312
37 MYH9 NM_002473.5(MYH9): c.4899G> A (p.Arg1633=) single nucleotide variant Benign rs5756130 GRCh37 Chromosome 22, 36684331: 36684331
38 MYH9 NM_002473.5(MYH9): c.4899G> A (p.Arg1633=) single nucleotide variant Benign rs5756130 GRCh38 Chromosome 22, 36288285: 36288285
39 MYH9 NM_002473.5(MYH9): c.4952T> C (p.Met1651Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142094977 GRCh37 Chromosome 22, 36682873: 36682873
40 MYH9 NM_002473.5(MYH9): c.4952T> C (p.Met1651Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142094977 GRCh38 Chromosome 22, 36286827: 36286827
41 MYH9 NM_002473.5(MYH9): c.5323A> G (p.Lys1775Glu) single nucleotide variant Likely benign rs145139708 GRCh37 Chromosome 22, 36681327: 36681327
42 MYH9 NM_002473.5(MYH9): c.5323A> G (p.Lys1775Glu) single nucleotide variant Likely benign rs145139708 GRCh38 Chromosome 22, 36285281: 36285281
43 MYH9 NM_002473.5(MYH9): c.5483+4C> G single nucleotide variant Benign/Likely benign rs56327920 GRCh37 Chromosome 22, 36681163: 36681163
44 MYH9 NM_002473.5(MYH9): c.5483+4C> G single nucleotide variant Benign/Likely benign rs56327920 GRCh38 Chromosome 22, 36285117: 36285117
45 MYH9 NM_002473.5(MYH9): c.5766-3delC deletion Benign rs141686520 GRCh37 Chromosome 22, 36678834: 36678834
46 MYH9 NM_002473.5(MYH9): c.5766-3delC deletion Benign rs141686520 GRCh38 Chromosome 22, 36282788: 36282788
47 MYH9 NM_002473.5(MYH9): c.5781G> T (p.Pro1927=) single nucleotide variant Benign rs80050551 GRCh37 Chromosome 22, 36678816: 36678816
48 MYH9 NM_002473.5(MYH9): c.5781G> T (p.Pro1927=) single nucleotide variant Benign rs80050551 GRCh38 Chromosome 22, 36282770: 36282770
49 MYH9 NM_002473.5(MYH9): c.5818G> A (p.Gly1940Arg) single nucleotide variant Benign/Likely benign rs140588099 GRCh37 Chromosome 22, 36678779: 36678779
50 MYH9 NM_002473.5(MYH9): c.5818G> A (p.Gly1940Arg) single nucleotide variant Benign/Likely benign rs140588099 GRCh38 Chromosome 22, 36282733: 36282733

Expression for Myh9 Related Thrombocytopenia

Search GEO for disease gene expression data for Myh9 Related Thrombocytopenia.

Pathways for Myh9 Related Thrombocytopenia

Pathways related to Myh9 Related Thrombocytopenia according to KEGG:

37
# Name Kegg Source Accession
1 Tight junction hsa04530
2 Regulation of actin cytoskeleton hsa04810

GO Terms for Myh9 Related Thrombocytopenia

Sources for Myh9 Related Thrombocytopenia

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