KEGG   DISEASE: Bleeding disorder platelet-type
Entry
H01235                      Disease                                
Name
Bleeding disorder platelet-type
  Subgroup
Glanzmann thrombasthenia [DS:H00226]
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
   3B62  Qualitative platelet defects
    H01235  Bleeding disorder platelet-type
Related
pathway
hsa04611  Platelet activation
hsa04512  ECM-receptor interaction
Gene
(BDPLT8) P2RY12 [HSA:64805] [KO:K04298]
(BDPLT11) GP6 [HSA:51206] [KO:K06264]
(BDPLT13) TBXA2R [HSA:6915] [KO:K04264]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT17) GFI1B [HSA:8328] [KO:K09223]
(BDPLT18) RASGRP2 [HSA:10235] [KO:K12361]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT20) SLFN14 [HSA:342618] [KO:K24445]
(BDPLT21) FLI1 [HSA:2313] [KO:K09436]
(BDPLT22) EPHB2 [HSA:2048] [KO:K05111]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
ITGA2 [HSA:3673] [KO:K06481]
Other DBs
ICD-11: 3B62
ICD-10: D69.8
OMIM: 609821 614200 614201 614009 615888 616913 617443 615193 187800 187900 616176 618462 619271
Reference
PMID:12578987 (BDPLT8)
  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
PMID:19552682 (BDPLT11)
  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
PMID:20162250 (BDPLT8_11_13)
  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
PMID:23434115 (BDPLT15)
  Authors
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
  Title
ACTN1 mutations cause congenital macrothrombocytopenia.
  Journal
Am J Hum Genet 92:431-8 (2013)
DOI:10.1016/j.ajhg.2013.01.015
Reference
PMID:21454453 (BDPLT16)
  Authors
Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H
  Title
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
  Journal
Blood 117:5479-84 (2011)
DOI:10.1182/blood-2010-12-323691
Reference
PMID:26287868 (BDPLT17)
  Title
A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome.
  Journal
N Engl J Med 373:782 (2015)
DOI:10.1056/NEJMx150011
Reference
PMID:24958846 (BDPLT18)
  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
PMID:25061177 (BDPLT19)
  Authors
Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, Souquere S, Pierron G, Rameau P, Andrews R, Lanza F, Bobe R, Vainchenker W, Rosa JP, Bryckaert M, Debili N, Favier R, Raslova H
  Title
A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
  Journal
Blood 124:2554-63 (2014)
DOI:10.1182/blood-2014-01-551820
Reference
PMID:26280575 (BDPLT20)
  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
PMID:28255014 (BDPLT21)
  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
PMID:30213874 (BDPLT22)
  Authors
Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M
  Title
A mutation of the human EPHB2 gene leads to a major platelet functional defect.
  Journal
Blood 132:2067-2077 (2018)
DOI:10.1182/blood-2018-04-845644
Reference
PMID:18065693 (BDPLT24)
  Authors
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH
  Title
A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
  Journal
Blood 111:3407-14 (2008)
DOI:10.1182/blood-2007-09-112615
Reference
PMID:22133774 (ITGA2)
  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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