KEGG DISEASE: Gray platelet syndrome

DISEASE: Gray platelet syndrome

Entry

H02097                      Disease

Name

Gray platelet syndrome;
Bleeding disorder platelet-type 4

Description

Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on the absence of platelet alpha-granules as observed by an electron microscope. Analysis of platelet contents in GPS demonstrates significantly decreased levels of several alpha-granule proteins, including (among others) fibrinogen, von Willebrand factor (VWF), thrombospondin, and factor V. While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant alpha-granule deficiencies in platelets.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B62  Qualitative platelet defects
    H02097  Gray platelet syndrome

Gene

NBEAL2 [HSA:23218] [KO:K23286]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:5129551

Authors

Raccuglia G

Title

Gray platelet syndrome. A variety of qualitative platelet disorder.

Journal

Am J Med 51:818-28 (1971)
DOI:10.1016/0002-9343(71)90311-1

Reference

PMID:26971401

Authors

Nurden AT, Nurden P

Title

Should any genetic defect affecting alpha-granules in platelets be classified as gray platelet syndrome?

Journal

Am J Hematol 91:714-8 (2016)
DOI:10.1002/ajh.24359

Reference

PMID:22102272

Authors

Di Paola J, Johnson J

Title

Thrombocytopenias due to gray platelet syndrome or THC2 mutations.

Journal

Semin Thromb Hemost 37:690-7 (2011)
DOI:10.1055/s-0031-1291379

Reference

PMID:21765412

Authors

Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA

Title

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules.

Journal

Nat Genet 43:732-4 (2011)
DOI:10.1038/ng.883

Reference

PMID:21765411

Authors

Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH

Title

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Journal

Nat Genet 43:735-7 (2011)
DOI:10.1038/ng.885

Reference

PMID:21765413

Authors

Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J

Title

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.

Journal

Nat Genet 43:738-40 (2011)
DOI:10.1038/ng.884

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (6)   
   PubMed (6)   
All databases (9)   

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