MCID: MYH004
MIFTS: 22

Myh9 Related Thrombocytopenia malady

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

Aliases & Classifications for Myh9 Related Thrombocytopenia

Aliases & Descriptions for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 50
Myh9-Related Disorder 25 29
Sebastian Syndrome 50 69
Fechtner Syndrome 50 69
Epstein Syndrome 50 69
Autosomal Dominant Myh9 Spectrum Disorders 25
Myh9-Related Macrothrombocytopenias 25
Sebastian Platelet Syndrome 50
Myh9 Related Disorders 50
May-Hegglin Anomaly 50
Myh9rd 25

Classifications:



Summaries for Myh9 Related Thrombocytopenia

NIH Rare Diseases : 50 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 disorder, is related to epstein syndrome and may-hegglin anomaly. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (Myosin Heavy Chain 9). 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

Diseases in the Thrombocytopenia family:

Thrombocytopenia 4 Thrombocytopenia 2
Thrombocytopenia 5 Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization Primary Thrombocytopenia
Myh9 Related Thrombocytopenia Mastl-Related Thrombocytopenia 2
Gata1-Related Thrombocytopenia Thrombocytopenia 6

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

id Related Disease Score Top Affiliating Genes
1 epstein syndrome 12.3
2 may-hegglin anomaly 11.2
3 fechtner syndrome 11.2
4 sebastian syndrome 11.2
5 myh-9 related disease 11.1
6 thrombocytopenia 9.6
7 alport syndrome 9.4
8 sensorineural hearing loss 9.4

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:


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

id Genetic test Affiliating Genes
1 Myh9 Related Disorders 29

Anatomical Context for Myh9 Related Thrombocytopenia

MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

39
Kidney, Skin, Eye

Publications for Myh9 Related Thrombocytopenia

Variations for Myh9 Related Thrombocytopenia

ClinVar genetic disease variations for Myh9 Related Thrombocytopenia:

6 (show all 17)
id 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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