MCID: MYH002
MIFTS: 20

Myh9-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Myh9-Related Disorders

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Aliases & Descriptions for Myh9-Related Disorders:

Name: Myh9-Related Disorders 21 22
 
Sebastian Syndrome 65

Classifications:



External Ids:

UMLS65 C1854520

Summaries for Myh9-Related Disorders

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MalaCards based summary: Myh9-Related Disorders, also known as sebastian syndrome, is related to myh9 related thrombocytopenia and may-hegglin anomaly. An important gene associated with Myh9-Related Disorders is MYH9 (Myosin, Heavy Chain 9, Non-Muscle), and among its related pathways are Actin Nucleation by ARP-WASP Complex and Sweet Taste Signaling. Affiliated tissues include pituitary, monocytes and kidney.

GeneReviews summary for NBK2689

Related Diseases for Myh9-Related Disorders

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

idRelated DiseaseScoreTop Affiliating Genes
1myh9 related thrombocytopenia11.5
2may-hegglin anomaly9.9
3cataract9.9
4campylobacteriosis9.5MYH6, MYH9
5malignant hyperthermia susceptibility9.3MYH6, MYH9

Graphical network of diseases related to Myh9-Related Disorders:



Diseases related to myh9-related disorders

Symptoms for Myh9-Related Disorders

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Drugs & Therapeutics for Myh9-Related Disorders

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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 Disorders

Genetic Tests for Myh9-Related Disorders

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Genetic tests related to Myh9-Related Disorders:

id Genetic test Affiliating Genes
1 Myh9-Related Disorders22 MYH9

Anatomical Context for Myh9-Related Disorders

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MalaCards organs/tissues related to Myh9-Related Disorders:

33
Pituitary, Monocytes, Kidney

Animal Models for Myh9-Related Disorders or affiliated genes

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MGI Mouse Phenotypes related to Myh9-Related Disorders:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Myh9-Related Disorders

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Articles related to Myh9-Related Disorders:

idTitleAuthorsYear
1
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. (25077172)
2014
2
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. (22627578)
2012
3
Renal manifestations of patients with MYH9-related disorders. (21210153)
2011
4
CKD in MYH9-related disorders. (19726116)
2009
5
Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. (19630815)
2009
6
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. (15339844)
2005
7
Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. (15020273)
2004
8
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. (11918549)
2002
9
MYH9-Related Disorders (20301740)
1993

Variations for Myh9-Related Disorders

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Clinvar genetic disease variations for Myh9-Related Disorders:

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.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
6MYH9NM_002473.5(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
7MYH9NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicrs587776808GRCh37Chr 22, 36678776: 36678776
8MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
9MYH9MYH9, 21-BP DELdeletionPathogenic

Expression for genes affiliated with Myh9-Related Disorders

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Search GEO for disease gene expression data for Myh9-Related Disorders.

Pathways for genes affiliated with Myh9-Related Disorders

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GO Terms for genes affiliated with Myh9-Related Disorders

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Sources for Myh9-Related Disorders

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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