MCID: MYH004
MIFTS: 41

Myh9 Related Thrombocytopenia malady

Genetic diseases, Rare diseases, Fetal diseases, Blood diseases, Immune diseases categories

Summaries for Myh9 Related Thrombocytopenia

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence and autosomal dominant alport syndrome, and has symptoms including anodontia/oligodontia/hypodontia, low hair line-front and terminal/third phalangeal bone of fingers hypoplasia. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include eye, kidney and skin.

Description from OMIM:48 192445,155100,153640,605249,153650

Aliases & Classifications for Myh9 Related Thrombocytopenia

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 46Novoseek, 50Orphanet, 22Genetics Home Reference, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

myh9 related thrombocytopenia 44
fechtner syndrome 44 21 23 48 46 63
may-hegglin anomaly 44 21 23 48 46
sebastian syndrome 44 21 23 48 46
epstein syndrome 44 21 23 48 63
myh9 related disorders 44 21 23
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 50
autosomal dominant myh9 spectrum disorders 22
myh9-related macrothrombocytopenias 22
sebastian platelet syndrome 44
stoll-kieny-dott syndrome 50
myh9-related disorder 22
epsteins syndrome 46
myh9rd 22


External Ids:

OMIM48 192445
ICD10 via Orphanet27 Q87.8

Related Diseases for Myh9 Related Thrombocytopenia

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Myh9 Related Thrombocytopenia:



Diseases related to myh9 related thrombocytopenia

Symptoms for Myh9 Related Thrombocytopenia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

153640

Clinical features from OMIM:

192445,155100,153640,605249,153650

Symptoms:

50 (show all 20)
  • anodontia/oligodontia/hypodontia
  • low hair line-front
  • terminal/third phalangeal bone of fingers hypoplasia
  • camptodactyly of fingers
  • tapered fingers
  • anomalies of nose and olfaction
  • distal phalangeal bones of toes hypoplasia/absence
  • short foot/brachydactyly of toes
  • short hand/brachydactyly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • short stature/dwarfism/nanism
  • microcephaly
  • cardiac rhythm disorder/arrhythmia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glossoptosis
  • metacarpal anomalies/archibald's sign
  • joint/articular deformation

Drugs & Therapeutics for Myh9 Related Thrombocytopenia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Myh9 Related Thrombocytopenia

Search CenterWatch for Myh9 Related Thrombocytopenia

Genetic Tests for Myh9 Related Thrombocytopenia

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21GeneTests, 23GTR
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Genetic tests related to Myh9 Related Thrombocytopenia:

id Genetic test Affiliating Genes
1 Myh9-Related Disorders21 MYH9
2 Sebastian Syndrome21 23 MYH9
3 Fechtner Syndrome21 23 MYH9
4 Epstein Syndrome21 23 MYH9
5 May-Hegglin Anomaly21 23 MYH9
6 Myh9 Related Disorders23

Anatomical Context for Myh9 Related Thrombocytopenia

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34MalaCards
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MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

34
Eye, Kidney, Skin, Bone

Animal Models for Myh9 Related Thrombocytopenia or affiliated genes

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Publications for Myh9 Related Thrombocytopenia

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Variations for Myh9 Related Thrombocytopenia

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Myh9 Related Thrombocytopenia:

65 (show all 32)
id Symbol AA change Variation ID SNP ID
1MYH9p.Asn93LysVAR_010791
2MYH9p.Arg702CysVAR_010792
3MYH9p.Arg702CysVAR_010792
4MYH9p.Arg702CysVAR_010792
5MYH9p.Arg702CysVAR_010792
6MYH9p.Arg702CysVAR_010792
7MYH9p.Thr1155IleVAR_010794
8MYH9p.Thr1155IleVAR_010794
9MYH9p.Arg1165CysVAR_010795
10MYH9p.Arg1165CysVAR_010795
11MYH9p.Asp1424HisVAR_010796
12MYH9p.Asp1424HisVAR_010796
13MYH9p.Glu1841LysVAR_010797
14MYH9p.Glu1841LysVAR_010797
15MYH9p.Glu1841LysVAR_010797
16MYH9p.Glu1841LysVAR_010797
17MYH9p.Ala95ThrVAR_018308
18MYH9p.Ser96LeuVAR_018309
19MYH9p.Lys373AsnVAR_018310
20MYH9p.Lys373AsnVAR_018310
21MYH9p.Arg702HisVAR_018311
22MYH9p.Arg702HisVAR_018311
23MYH9p.Ser1114ProVAR_018312
24MYH9p.Arg1165LeuVAR_018313
25MYH9p.Arg1165LeuVAR_018313
26MYH9p.Arg1165LeuVAR_018313
27MYH9p.Asp1424AsnVAR_018316
28MYH9p.Asp1424AsnVAR_018316
29MYH9p.Asp1424AsnVAR_018316
30MYH9p.Asp1424TyrVAR_018317
31MYH9p.Ile1816ValVAR_030385
32MYH9p.Lys910GlnVAR_044226

Clinvar genetic disease variations for Myh9 Related Thrombocytopenia:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.4(MYH9): c.279C> G (p.Asn93Lys)single nucleotide variantPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
5MYH9NM_002473.4(MYH9): c.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
6MYH9NM_002473.4(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
7MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
8MYH9NM_002473.4(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
9MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
10MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
11MYH9NM_002473.4(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995

Expression for genes affiliated with Myh9 Related Thrombocytopenia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myh9 Related Thrombocytopenia

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Pathways for genes affiliated with Myh9 Related Thrombocytopenia

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Compounds for genes affiliated with Myh9 Related Thrombocytopenia

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GO Terms for genes affiliated with Myh9 Related Thrombocytopenia

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Products for genes affiliated with Myh9 Related Thrombocytopenia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myh9 Related Thrombocytopenia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet