MCID: MYH004
MIFTS: 21

Myh9 Related Thrombocytopenia malady

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

Aliases & Classifications for Myh9 Related Thrombocytopenia

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Aliases & Descriptions for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 46
Myh9-Related Disorder 24 25
Sebastian Syndrome 46 66
Fechtner Syndrome 46 66
Epstein Syndrome 46 66
Autosomal Dominant Myh9 Spectrum Disorders 24
 
Myh9-Related Macrothrombocytopenias 24
Sebastian Platelet Syndrome 46
Myh9 Related Disorders 46
May-Hegglin Anomaly 46
Myh9rd 24

Classifications:



Summaries for Myh9 Related Thrombocytopenia

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NIH Rare Diseases:46 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 may-hegglin anomaly and sebastian syndrome. 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

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Graphical network of diseases related to Myh9 Related Thrombocytopenia:



Diseases related to myh9 related thrombocytopenia

Symptoms for Myh9 Related Thrombocytopenia

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Drugs & Therapeutics for Myh9 Related Thrombocytopenia

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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

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Genetic tests related to Myh9 Related Thrombocytopenia:

id Genetic test Affiliating Genes
1 Myh9 Related Disorders25

Anatomical Context for Myh9 Related Thrombocytopenia

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MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

34
Kidney, Skin, Eye

Animal Models for Myh9 Related Thrombocytopenia or affiliated genes

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Publications for Myh9 Related Thrombocytopenia

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Variations for Myh9 Related Thrombocytopenia

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Clinvar genetic disease variations for Myh9 Related Thrombocytopenia:

5
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.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
6MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.5(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
8MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicrs587776808GRCh37Chr 22, 36678776: 36678776
9MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
10MYH9NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del)deletionPathogenicrs876661302GRCh37Chr 22, 36692946: 36692966

Expression for genes affiliated with Myh9 Related Thrombocytopenia

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

Pathways for genes affiliated with Myh9 Related Thrombocytopenia

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GO Terms for genes affiliated with Myh9 Related Thrombocytopenia

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Sources for Myh9 Related Thrombocytopenia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet