MCID: MYH004
MIFTS: 22

Myh9 Related Thrombocytopenia malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories

Aliases & Classifications for Myh9 Related Thrombocytopenia

About this section

Aliases & Descriptions for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 45
Myh9-Related Disorder 23 24
Sebastian Syndrome 45 65
Fechtner Syndrome 45 65
Epstein Syndrome 45 65
Autosomal Dominant Myh9 Spectrum Disorders 23
 
Myh9-Related Macrothrombocytopenias 23
Sebastian Platelet Syndrome 45
Myh9 Related Disorders 45
May-Hegglin Anomaly 45
Myh9rd 23


Classifications:



Summaries for Myh9 Related Thrombocytopenia

About this section
NIH Rare Diseases:45 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 autosomal dominant macrothrombocytopenia. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (Myosin, Heavy Chain 9, Non-Muscle). Affiliated tissues include kidney, skin and eye.

Genetics Home Reference:23 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

About this section

Graphical network of diseases related to Myh9 Related Thrombocytopenia:



Diseases related to myh9 related thrombocytopenia

Symptoms for Myh9 Related Thrombocytopenia

About this section

Drugs & Therapeutics for Myh9 Related Thrombocytopenia

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related DiseaseCompletedNCT01133860Phase 2
2Eltrombopag for Inherited ThrombocytopeniasRecruitingNCT02422394Phase 2
3Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional ThrombocytopeniaCompletedNCT00925236

Search NIH Clinical Center for Myh9 Related Thrombocytopenia

Genetic Tests for Myh9 Related Thrombocytopenia

About this section

Genetic tests related to Myh9 Related Thrombocytopenia:

id Genetic test Affiliating Genes
1 Myh9 Related Disorders24

Anatomical Context for Myh9 Related Thrombocytopenia

About this section

MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

33
Kidney, Skin, Eye

Animal Models for Myh9 Related Thrombocytopenia or affiliated genes

About this section

Publications for Myh9 Related Thrombocytopenia

About this section

Variations for Myh9 Related Thrombocytopenia

About this section

Clinvar genetic disease variations for Myh9 Related Thrombocytopenia:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.5(MYH9): c.279C> G (p.Asn93Lys)single nucleotide variantPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
5MYH9NM_002473.5(MYH9): c.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
6MYH9NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
7MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
8MYH9NM_002473.5(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
9MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicrs587776808GRCh37Chr 22, 36678776: 36678776
10MYH9NM_002473.5(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
11MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
12MYH9NM_002473.5(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995
13MYH9MYH9, 21-BP DELdeletionPathogenic
14MYH9MYH9, 21-BP DUPduplicationPathogenic
15MYH9NM_002473.5(MYH9): c.4340A> T (p.Asp1447Val)single nucleotide variantPathogenicrs797044804GRCh37Chr 22, 36688036: 36688036
16MYH9NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu)single nucleotide variantPathogenicrs80338830GRCh37Chr 22, 36691114: 36691114
17MYH9NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Myh9 Related Thrombocytopenia

About this section
Search GEO for disease gene expression data for Myh9 Related Thrombocytopenia.

Pathways for genes affiliated with Myh9 Related Thrombocytopenia

About this section

GO Terms for genes affiliated with Myh9 Related Thrombocytopenia

About this section

Sources for Myh9 Related Thrombocytopenia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet