MCID: MYH002
MIFTS: 18

Myh9-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Myh9-Related Disorders

About this section

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

About this section
MalaCards based summary: Myh9-Related Disorders, also known as sebastian syndrome, is related to myh9 related thrombocytopenia and obesity. 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 kidney, monocytes and pituitary.

GeneReviews summary for NBK2689

Related Diseases for Myh9-Related Disorders

About this section

Graphical network of diseases related to Myh9-Related Disorders:



Diseases related to myh9-related disorders

Symptoms for Myh9-Related Disorders

About this section

Drugs & Therapeutics for Myh9-Related Disorders

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 Disorders

Genetic Tests for Myh9-Related Disorders

About this section

Genetic tests related to Myh9-Related Disorders:

id Genetic test Affiliating Genes
1 Myh9-Related Disorders22 MYH9

Anatomical Context for Myh9-Related Disorders

About this section

MalaCards organs/tissues related to Myh9-Related Disorders:

33
Kidney, Monocytes, Pituitary

Animal Models for Myh9-Related Disorders or affiliated genes

About this section

MGI Mouse Phenotypes related to Myh9-Related Disorders:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Myh9-Related Disorders

About this section

Articles related to Myh9-Related Disorders:

idTitleAuthorsYear
1
Leishmaniasis in the era of tumor necrosis factor alpha antagonist therapy--a research agenda for Europe. (23929182)
2013
2
Human herpesvirus 8-unrelated primary effusion lymphoma-like lymphoma: report of a rare case and review of 54 cases in the literature. (23897264)
2013
3
CCND1 rs9344 polymorphisms are associated with the genetic susceptibility to cervical cancer in Chinese population. (21594903)
2012
4
Atorvastatin-induced modulation of monocyte respiratory burst in vivo in patients with IgA nephropathy: a chronic inflammatory kidney disease. (20178722)
2010
5
Endothelin-1 plasma concentrations in patients with retinitis pigmentosa. (20005906)
2010
6
A potential inhibitory role for the new truncated variant of somatostatin receptor 5, sst5TMD4, in pituitary adenomas poorly responsive to somatostatin analogs. (20233783)
2010
7
A de novo paradigm for mental retardation. (21076407)
2010
8
Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. (17151244)
2007
9
Recombinant erythropoietin for the anemia of prematurity: still a promise, not a panacea. (9403639)
1997

Variations for Myh9-Related Disorders

About this section

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

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

Pathways for genes affiliated with Myh9-Related Disorders

About this section

GO Terms for genes affiliated with Myh9-Related Disorders

About this section

Sources for Myh9-Related Disorders

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