Gray platelet syndrome

Gray platelet syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29160
ICD10 = ICD10|D|69|1|d|65
ICD9 =
ICDO =
OMIM = 139090
MedlinePlus = 000582
eMedicineSubj =
eMedicineTopic =
MeshID =

Gray platelet syndrome, or platelet alpha-granule deficiency,OMIM|139090] is a rare congenital bleeding disorder caused by a reduction or absence of the platelet alpha-granules in blood platelets, or of the proteins contained in these granules. [cite journal |author=Nurden AT, Nurden P |title=The gray platelet syndrome: clinical spectrum of the disease |journal=Blood Rev. |volume=21 |issue=1 |pages=21–36 |year=2007 |pmid=16442192 |doi=10.1016/j.blre.2005.12.003 |url=http://linkinghub.elsevier.com/retrieve/pii/S0268-960X(05)00071-8]

It is generally inherited in an autosomal dominant manner, [cite journal |pmid=6484975 |year=1984 |month=Jul |author=Mori, K; Suzuki, S; Sugai, K |title=Electron microscopic and functional studies on platelets in gray platelet syndrome |volume=143 |issue=3 |pages=261–87 |issn=0040-8727 |journal=The Tohoku journal of experimental medicine |url=http://joi.jlc.jst.go.jp/JST.Journalarchive/tjem1920/143.261?from=PubMed |format=Free full text] although a few autosomal recessive cases have been noted. [cite journal |pmid=11520786 |year=2001 |month=Sep |author=Drouin, A; Favier, R; Massé, Jm; Debili, N; Schmitt, A; Elbim, C; Guichard, J; Adam, M; Gougerot-Pocidalo, Ma; Cramer, Em |title=Newly recognized cellular abnormalities in the gray platelet syndrome |volume=98 |issue=5 |pages=1382–91 |issn=0006-4971 |journal=Blood |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=11520786 |format=Free full text]

ee also

*Pseudo gray platelet syndrome

External links

*RareDiseases|2562|Gray platelet syndrome

References


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