KEGG   DISEASE: Bleeding disorder platelet-typeHelp
Entry
H01235                      Disease                                

Name
Bleeding disorder platelet-type
Description
Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these disorders are associated with mutations in key platelet activation receptors, namely those for ADP, collagen and thromboxane A2.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01235  Bleeding disorder platelet-type
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
   Fibrinolytic defects
    3B62  Qualitative platelet defects
     H01235  Bleeding disorder platelet-type
BRITE hierarchy
Gene
P2RY12 [HSA:64805] [KO:K04298]
ITGA2 [HSA:3673] [KO:K06481]
GP6 [HSA:51206] [KO:K06264]
TBXA2R [HSA:6915] [KO:K04264]
RASGRP2 [HSA:10235] [KO:K12361]
SLFN14 [HSA:342618]
FLI1 [HSA:2313] [KO:K09436]
Comment
See also H01740 Macrothrombocytopenia.
Other DBs
ICD-11: 3B62
ICD-10: D69.8
OMIM: 609821 614200 614201 614009 615888 616913 617443
Reference
  Authors
Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM
  Title
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.
  Journal
Proc Natl Acad Sci U S A 100:1978-83 (2003)
DOI:10.1073/pnas.0437879100
Reference
  Authors
Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K
  Title
A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.
  Journal
J Thromb Haemost 7:1356-63 (2009)
DOI:10.1111/j.1538-7836.2009.03520.x
Reference
  Authors
Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A
  Title
Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors.
  Journal
Hamostaseologie 30:29-38 (2010)
Reference
  Authors
Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, Germain M, Raslova H, Peiretti F, Morange PE, Saut N, Pillois X, Nurden AT, Cambien F, Pierres A, van den Berg TK, Kuijpers TW, Alessi MC, Tregouet DA
  Title
Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.
  Journal
J Exp Med 211:1349-62 (2014)
DOI:10.1084/jem.20130477
Reference
  Authors
Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidze M, Guiu IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV
  Title
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
  Journal
J Clin Invest 125:3600-5 (2015)
DOI:10.1172/JCI80347
Reference
  Authors
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Faure S, Eckly A, Tregouet DA, Poggi M, Alessi MC
  Title
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
  Journal
Haematologica 102:1006-1016 (2017)
DOI:10.3324/haematol.2016.153577
Reference
  Authors
Kunicki TJ, Williams SA, Diaz D, Farndale RW, Nugent DJ
  Title
Platelet adhesion to decorin but not collagen I correlates with the integrin alpha2 dimorphism E534K, the basis of the human platelet alloantigen (HPA)-5 system.
  Journal
Haematologica 97:692-5 (2012)
DOI:10.3324/haematol.2011.056556

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