MCID: MYH004
MIFTS: 21

Myh9 Related Thrombocytopenia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Myh9 Related Thrombocytopenia

MalaCards integrated aliases for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 49
Myh9 Related Disorders 49 28
Sebastian Syndrome 49 69
Fechtner Syndrome 49 69
Epstein Syndrome 49 69
Autosomal Dominant Myh9 Spectrum Disorders 24
Myh9-Related Macrothrombocytopenias 24
Sebastian Platelet Syndrome 49
Myh9-Related Disorder 24
Myh9-Related Disease 36
May-Hegglin Anomaly 49
Myh9rd 24

Classifications:



External Ids:

KEGG 36 H00233

Summaries for Myh9 Related Thrombocytopenia

NIH Rare Diseases : 49 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 Last updated: 1/22/2014

MalaCards based summary : Myh9 Related Thrombocytopenia, also known as myh9 related disorders, is related to fechtner syndrome and myh-9 related disease. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (Myosin Heavy Chain 9). Affiliated tissues include kidney, skin and eye.

Genetics Home Reference : 24 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

Diseases related to Myh9 Related Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fechtner syndrome 12.5
2 myh-9 related disease 11.4
3 epstein syndrome 11.4
4 sebastian syndrome 11.4
5 may-hegglin anomaly 11.3
6 alport syndrome, autosomal dominant 11.3
7 alport syndrome, x-linked 9.8
8 glomerulonephritis 9.8
9 thrombocytopenia 9.8

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 28 MYH9

Anatomical Context for Myh9 Related Thrombocytopenia

MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

38
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 all 17)
# 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.3493C> T (p.Arg1165Cys) single nucleotide variant Pathogenic rs80338829 GRCh37 Chromosome 22, 36691115: 36691115
4 MYH9 NM_002473.5(MYH9): c.279C> G (p.Asn93Lys) single nucleotide variant Pathogenic rs121913655 GRCh37 Chromosome 22, 36745003: 36745003
5 MYH9 NM_002473.5(MYH9): c.4270G> C (p.Asp1424His) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
6 MYH9 NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile) single nucleotide variant Pathogenic rs121913656 GRCh37 Chromosome 22, 36691572: 36691572
7 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
8 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh37 Chromosome 22, 36702021: 36702021
9 MYH9 NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs) deletion Pathogenic rs587776808 GRCh37 Chromosome 22, 36678776: 36678776
10 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
11 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
12 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995
13 MYH9 NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del) deletion Pathogenic rs876661302 GRCh37 Chromosome 22, 36692946: 36692966
14 MYH9 NM_002473.5(MYH9) duplication Pathogenic rs876661303 GRCh37 Chromosome 22, 36692946: 36692966
15 MYH9 NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu) single nucleotide variant Pathogenic rs80338830 GRCh37 Chromosome 22, 36691114: 36691114
16 MYH9 NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
17 MYH9 NM_002473.5(MYH9): c.4340A> T (p.Asp1447Val) single nucleotide variant Pathogenic rs797044804 GRCh37 Chromosome 22, 36688036: 36688036

Expression for Myh9 Related Thrombocytopenia

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

Pathways for Myh9 Related Thrombocytopenia

GO Terms for Myh9 Related Thrombocytopenia

Sources for Myh9 Related Thrombocytopenia

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