MCID: MYH004
MIFTS: 23

Myh9 Related Thrombocytopenia

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

Aliases & Classifications for Myh9 Related Thrombocytopenia

MalaCards integrated aliases for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 53
Myh9 Related Disorders 53 29 6
Myh9-Related Disorder 25 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 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 disorders, is related to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss and myh-9 related disease. 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 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 Myh9 Related Thrombocytopenia

Genetic Tests for Myh9 Related Thrombocytopenia

Genetic tests related to Myh9 Related Thrombocytopenia:

# Genetic test Affiliating Genes
1 Myh9 Related Disorders 29

Anatomical Context for Myh9 Related Thrombocytopenia

MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

41
Kidney, Skin, Eye

Publications for Myh9 Related Thrombocytopenia

Articles related to Myh9 Related Thrombocytopenia:

# Title Authors Year
1
Congenital thrombocytopenia with nephritis - The first case of MYH9 related disorder in Serbia. ( 24783421 )
2014

Variations for Myh9 Related Thrombocytopenia

ClinVar genetic disease variations for Myh9 Related Thrombocytopenia:

6
(show top 50) (show all 264)
# 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.5797C> T (p.Arg1933Ter) single nucleotide variant Pathogenic rs80338835 GRCh38 Chromosome 22, 36282754: 36282754
3 MYH9 NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys) single nucleotide variant Pathogenic rs80338834 GRCh37 Chromosome 22, 36680520: 36680520
4 MYH9 NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys) single nucleotide variant Pathogenic rs80338834 GRCh38 Chromosome 22, 36284474: 36284474
5 MYH9 NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys) single nucleotide variant Pathogenic rs80338829 GRCh37 Chromosome 22, 36691115: 36691115
6 MYH9 NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys) single nucleotide variant Pathogenic rs80338829 GRCh38 Chromosome 22, 36295069: 36295069
7 MYH9 NM_002473.5(MYH9): c.279C> G (p.Asn93Lys) single nucleotide variant Pathogenic rs121913655 GRCh37 Chromosome 22, 36745003: 36745003
8 MYH9 NM_002473.5(MYH9): c.279C> G (p.Asn93Lys) single nucleotide variant Pathogenic rs121913655 GRCh38 Chromosome 22, 36348958: 36348958
9 MYH9 NM_002473.5(MYH9): c.4270G> C (p.Asp1424His) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
10 MYH9 NM_002473.5(MYH9): c.4270G> C (p.Asp1424His) single nucleotide variant Pathogenic rs80338831 GRCh38 Chromosome 22, 36292060: 36292060
11 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
12 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh38 Chromosome 22, 36305985: 36305985
13 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh37 Chromosome 22, 36702021: 36702021
14 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh38 Chromosome 22, 36305975: 36305975
15 MYH9 NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs) deletion Pathogenic rs587776808 GRCh37 Chromosome 22, 36678776: 36678776
16 MYH9 NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs) deletion Pathogenic rs587776808 GRCh38 Chromosome 22, 36282730: 36282730
17 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
18 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh38 Chromosome 22, 36305984: 36305984
19 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
20 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh38 Chromosome 22, 36292060: 36292060
21 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995
22 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh38 Chromosome 22, 36348950: 36348950
23 MYH9 NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu) single nucleotide variant Pathogenic rs80338830 GRCh37 Chromosome 22, 36691114: 36691114
24 MYH9 NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu) single nucleotide variant Pathogenic rs80338830 GRCh38 Chromosome 22, 36295068: 36295068
25 MYH9 NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
26 MYH9 NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr) single nucleotide variant Pathogenic rs80338831 GRCh38 Chromosome 22, 36292060: 36292060
27 MYH9 NM_002473.5(MYH9): c.5143G> A (p.Gly1715Ser) single nucleotide variant Likely benign rs148109368 GRCh37 Chromosome 22, 36681918: 36681918
28 MYH9 NM_002473.5(MYH9): c.5143G> A (p.Gly1715Ser) single nucleotide variant Likely benign rs148109368 GRCh38 Chromosome 22, 36285872: 36285872
29 MYH9 NM_002473.5(MYH9): c.5010G> A (p.Glu1670=) single nucleotide variant Likely benign rs76069100 GRCh37 Chromosome 22, 36682815: 36682815
30 MYH9 NM_002473.5(MYH9): c.5010G> A (p.Glu1670=) single nucleotide variant Likely benign rs76069100 GRCh38 Chromosome 22, 36286769: 36286769
31 MYH9 NM_002473.5(MYH9): c.4878C> T (p.Ile1626=) single nucleotide variant Conflicting interpretations of pathogenicity rs143947828 GRCh37 Chromosome 22, 36684352: 36684352
32 MYH9 NM_002473.5(MYH9): c.4878C> T (p.Ile1626=) single nucleotide variant Conflicting interpretations of pathogenicity rs143947828 GRCh38 Chromosome 22, 36288306: 36288306
33 MYH9 NM_002473.5(MYH9): c.4727G> A (p.Arg1576Gln) single nucleotide variant Benign/Likely benign rs143269195 GRCh37 Chromosome 22, 36684816: 36684816
34 MYH9 NM_002473.5(MYH9): c.4727G> A (p.Arg1576Gln) single nucleotide variant Benign/Likely benign rs143269195 GRCh38 Chromosome 22, 36288770: 36288770
35 MYH9 NM_002473.5(MYH9): c.4297C> T (p.Arg1433Cys) single nucleotide variant Uncertain significance rs727503286 GRCh37 Chromosome 22, 36688079: 36688079
36 MYH9 NM_002473.5(MYH9): c.4297C> T (p.Arg1433Cys) single nucleotide variant Uncertain significance rs727503286 GRCh38 Chromosome 22, 36292033: 36292033
37 MYH9 NM_002473.5(MYH9): c.3340T> C (p.Ser1114Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200901330 GRCh37 Chromosome 22, 36691696: 36691696
38 MYH9 NM_002473.5(MYH9): c.3340T> C (p.Ser1114Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200901330 GRCh38 Chromosome 22, 36295650: 36295650
39 MYH9 NM_002473.5(MYH9): c.3216G> A (p.Ala1072=) single nucleotide variant Likely benign rs139441456 GRCh37 Chromosome 22, 36692945: 36692945
40 MYH9 NM_002473.5(MYH9): c.3216G> A (p.Ala1072=) single nucleotide variant Likely benign rs139441456 GRCh38 Chromosome 22, 36296899: 36296899
41 MYH9 NM_002473.5(MYH9): c.2721C> T (p.Thr907=) single nucleotide variant Benign/Likely benign rs148112044 GRCh37 Chromosome 22, 36697014: 36697014
42 MYH9 NM_002473.5(MYH9): c.2721C> T (p.Thr907=) single nucleotide variant Benign/Likely benign rs148112044 GRCh38 Chromosome 22, 36300968: 36300968
43 MYH9 NM_002473.5(MYH9): c.2635A> C (p.Met879Leu) single nucleotide variant Likely benign rs200328859 GRCh37 Chromosome 22, 36697100: 36697100
44 MYH9 NM_002473.5(MYH9): c.2635A> C (p.Met879Leu) single nucleotide variant Likely benign rs200328859 GRCh38 Chromosome 22, 36301054: 36301054
45 MYH9 NM_002473.5(MYH9): c.2500-14A> G single nucleotide variant Likely benign rs199505086 GRCh37 Chromosome 22, 36697725: 36697725
46 MYH9 NM_002473.5(MYH9): c.2500-14A> G single nucleotide variant Likely benign rs199505086 GRCh38 Chromosome 22, 36301679: 36301679
47 MYH9 NM_002473.5(MYH9): c.1626C> T (p.Phe542=) single nucleotide variant Benign/Likely benign rs7285745 GRCh37 Chromosome 22, 36708196: 36708196
48 MYH9 NM_002473.5(MYH9): c.1626C> T (p.Phe542=) single nucleotide variant Benign/Likely benign rs7285745 GRCh38 Chromosome 22, 36312151: 36312151
49 MYH9 NM_002473.5(MYH9): c.705+11C> T single nucleotide variant Benign/Likely benign rs201738304 GRCh37 Chromosome 22, 36718463: 36718463
50 MYH9 NM_002473.5(MYH9): c.705+11C> T single nucleotide variant Benign/Likely benign rs201738304 GRCh38 Chromosome 22, 36322418: 36322418

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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