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 48
Myh9-Related Disorder 25 27
Sebastian Syndrome 48 68
Fechtner Syndrome 48 68
Epstein Syndrome 48 68
Autosomal Dominant Myh9 Spectrum Disorders 25
 
Myh9-Related Macrothrombocytopenias 25
Sebastian Platelet Syndrome 48
Myh9 Related Disorders 48
May-Hegglin Anomaly 48
Myh9rd 25

Classifications:



Summaries for Myh9 Related Thrombocytopenia

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NIH Rare Diseases:48 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 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

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Graphical network of diseases related to Myh9 Related Thrombocytopenia:



Diseases related to myh9 related thrombocytopenia

Symptoms & Phenotypes 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 Disorders27

Anatomical Context for Myh9 Related Thrombocytopenia

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MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

36
Kidney, Eye

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 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)SNVPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)SNVPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys)SNVPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.5(MYH9): c.279C> G (p.Asn93Lys)SNVPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
5MYH9NM_002473.5(MYH9): c.4270G> C (p.Asp1424His)SNVPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
6MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)SNVPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.5(MYH9): c.2114G> A (p.Arg705His)SNVPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
8MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicrs587776808GRCh37Chr 22, 36678776: 36678776
9MYH9NM_002473.5(MYH9): c.2105G> A (p.Arg702His)SNVPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
10MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)SNVPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
11MYH9NM_002473.5(MYH9): c.287C> T (p.Ser96Leu)SNVPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995
12MYH9NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del)deletionPathogenicrs876661302GRCh37Chr 22, 36692946: 36692966
13MYH9NM_002473.5(MYH9): c.4340A> T (p.Asp1447Val)SNVPathogenicrs797044804GRCh37Chr 22, 36688036: 36688036
14MYH9NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu)SNVPathogenicrs80338830GRCh37Chr 22, 36691114: 36691114
15MYH9NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr)SNVPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet