MCID: MYH004
MIFTS: 31

Myh9 Related Thrombocytopenia malady

Blood category

Summaries for Myh9 Related Thrombocytopenia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Myh9 Related Thrombocytopenia, also known as fechtner syndrome, is related to thrombocytopenia and autosomal dominant alport syndrome. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include kidney and skin.

Genetics Home Reference:21 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).

Description from OMIM:47 153650,153640,155100

Aliases & Classifications for Myh9 Related Thrombocytopenia

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 45Novoseek, 21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

myh9 related thrombocytopenia 43
fechtner syndrome 43 20 22 47 45 61
may-hegglin anomaly 43 20 22 47 45
epstein syndrome 43 20 22 47 61
myh9 related disorders 43 20 22
autosomal dominant myh9 spectrum disorders 21
myh9-related macrothrombocytopenias 21
sebastian platelet syndrome 43
myh9-related disorder 21
epsteins syndrome 45
myh9rd 21


Related Diseases for Myh9 Related Thrombocytopenia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Myh9 Related Thrombocytopenia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia29.8MYH9
2autosomal dominant alport syndrome10.2
3pharyngitis10.2
4coronary thrombosis10.2
5myh9-related disorders10.2
6bernard-soulier syndrome type c10.2
7hypotonia10.2
8sebastian syndrome10.2
9n syndrome10.1
10kid syndrome10.1
11diabetes mellitus10.0DNAH8
12herpes simplex10.0DNAH8
13chronic kidney failure10.0MYH9, DNAH8
14cataract10.0MYH9, DNAH8
15primary hyperoxaluria10.0DNAH8, MYH9
16alport syndrome9.9

Graphical network of diseases related to Myh9 Related Thrombocytopenia:



Diseases related to myh9 related thrombocytopenia

Clinical Features for Myh9 Related Thrombocytopenia

Sources:
47OMIM
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Clinical features from OMIM:

153650,153640,155100

Clinical synopsis from OMIM:

153640

Drugs & Therapeutics for Myh9 Related Thrombocytopenia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myh9 Related Thrombocytopenia

Sources:
20GeneTests, 22GTR
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Genetic tests related to Myh9 Related Thrombocytopenia:

id Genetic test Affiliating Genes
1 Myh9-related Disorders20 MYH9
2 Fechtner Syndrome20 22 MYH9
3 Epstein Syndrome20 22 MYH9
4 May-hegglin Anomaly20 22 MYH9
5 Myh9 Related Disorders22

Anatomical Context for Myh9 Related Thrombocytopenia

Sources:
33MalaCards
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MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

33
Kidney, Skin

Animal Models for Myh9 Related Thrombocytopenia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Myh9 Related Thrombocytopenia

Sources:
51PubMed
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Articles related to Myh9 Related Thrombocytopenia:

idTitleAuthorsYear
1
First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia. (23940247)
2013
2
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. (21833445)
2011
3
Thrombocytopenia and proteinuria. Nonmuscle myosin heavy-chain-9-related disease ( MYH9 RD) or Epstein syndrome (ES). (18781340)
2009
4
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. (19572073)
2009
5
Genotype-phenotype correlation in MYH9-related thrombocytopenia. (16098078)
2005

Genetic Variations for Myh9 Related Thrombocytopenia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Myh9 Related Thrombocytopenia:

63 (show all 26)
id Symbol AA change Variation SNP ID
1MYH9p.Asn93LysVAR_010791
2MYH9p.Arg702CysVAR_010792
3MYH9p.Arg702CysVAR_010792
4MYH9p.Arg702CysVAR_010792
5MYH9p.Arg702CysVAR_010792
6MYH9p.Thr1155IleVAR_010794
7MYH9p.Thr1155IleVAR_010794
8MYH9p.Arg1165CysVAR_010795
9MYH9p.Asp1424HisVAR_010796
10MYH9p.Asp1424HisVAR_010796
11MYH9p.Glu1841LysVAR_010797
12MYH9p.Glu1841LysVAR_010797
13MYH9p.Glu1841LysVAR_010797
14MYH9p.Ala95ThrVAR_018308
15MYH9p.Ser96LeuVAR_018309
16MYH9p.Lys373AsnVAR_018310
17MYH9p.Arg702HisVAR_018311
18MYH9p.Arg702HisVAR_018311
19MYH9p.Ser1114ProVAR_018312
20MYH9p.Arg1165LeuVAR_018313
21MYH9p.Arg1165LeuVAR_018313
22MYH9p.Asp1424AsnVAR_018316
23MYH9p.Asp1424AsnVAR_018316
24MYH9p.Asp1424TyrVAR_018317
25MYH9p.Ile1816ValVAR_030385
26MYH9p.Lys910GlnVAR_044226

Expression for genes affiliated with Myh9 Related Thrombocytopenia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myh9 Related Thrombocytopenia

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

Pathways for genes affiliated with Myh9 Related Thrombocytopenia

Compounds for genes affiliated with Myh9 Related Thrombocytopenia

GO Terms for genes affiliated with Myh9 Related Thrombocytopenia

Sources:
16Gene Ontology
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Molecular functions related to Myh9 Related Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.1DNAH8, MYH9

Products for genes affiliated with Myh9 Related Thrombocytopenia

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  • Proteins
  • Lysates
  • Antibodies

Sources for Myh9 Related Thrombocytopenia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet