MCID: MYH015
MIFTS: 11

Myh-9 Related Disease malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Myh-9 Related Disease

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Aliases & Descriptions for Myh-9 Related Disease:

Name: Myh-9 Related Disease 11
Myh9-Related Disorders 23 24
 
Sebastian Syndrome 68

Characteristics:

GeneReviews:

23
Penetrance: penetrance is complete for the following congenital findings:...


Classifications:



External Ids:

Disease Ontology11 DOID:0060651
ICD1030 D69.4

Summaries for Myh-9 Related Disease

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Disease Ontology:11 A blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.

MalaCards based summary: Myh-9 Related Disease, also known as myh9-related disorders, is related to myh9 related thrombocytopenia and may-hegglin anomaly. An important gene associated with Myh-9 Related Disease is MYH9 (Myosin Heavy Chain 9).

GeneReviews for NBK2689

Related Diseases for Myh-9 Related Disease

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Diseases related to Myh-9 Related Disease via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myh9 related thrombocytopenia11.5
2may-hegglin anomaly9.9
3cataract9.8

Symptoms & Phenotypes for Myh-9 Related Disease

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Drugs & Therapeutics for Myh-9 Related Disease

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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 Myh-9 Related Disease

Genetic Tests for Myh-9 Related Disease

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Genetic tests related to Myh-9 Related Disease:

id Genetic test Affiliating Genes
1 Myh9-Related Disorders24 MYH9

Anatomical Context for Myh-9 Related Disease

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Publications for Myh-9 Related Disease

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Variations for Myh-9 Related Disease

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Clinvar genetic disease variations for Myh-9 Related Disease:

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 Myh-9 Related Disease

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Search GEO for disease gene expression data for Myh-9 Related Disease.

Pathways for genes affiliated with Myh-9 Related Disease

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GO Terms for genes affiliated with Myh-9 Related Disease

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Sources for Myh-9 Related Disease

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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