KEGG DISEASE: Bleeding disorder platelet-type

DISEASE: Bleeding disorder platelet-type

Entry

H01235                      Disease

Name

Bleeding disorder platelet-type

Subgroup

Glanzmann thrombasthenia [DS:H00226]
Scott syndrome [DS:H01162]
CD36 deficiency [DS:H01108]
Quebec platelet disorder (QPD)

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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H01235  Bleeding disorder platelet-type
Immune system
  nt06514  Coagulation cascade
   H01235  Bleeding disorder platelet-type

Pathway

hsa04611

Platelet activation

hsa04512

ECM-receptor interaction

hsa04148

Efferocytosis

Network

nt06514 Coagulation cascade
nt06535 Efferocytosis

Gene

(BDPLT5/QPD) PLAU [HSA:5328] [KO:K01348]
(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]
(BDPLT25) TPM4 [HSA:7171] [KO:K10375]
ITGA2 [HSA:3673] [KO:K06481]

Other DBs

ICD-11:

3B62

ICD-10:

D69.8

OMIM:

601709 609821 614200 614201 614009 615888 616913 617443 615193 187800 187900 616176 618462 619271 620486

Reference

PMID:18988861 (BDPLT5/QPD)

Authors

Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP

Title

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.

Journal

Blood 113:1543-6 (2009)
DOI:10.1182/blood-2008-08-175216

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:35170221 (BDPLT25)

Authors

Marin-Quilez A, Vuelta E, Diaz-Ajenjo L, Fernandez-Infante C, Garcia-Tunon I, Benito R, Palma-Barqueros V, Hernandez-Rivas JM, Gonzalez-Porras JR, Rivera J, Bastida JM

Title

A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.

Journal

J Thromb Haemost 20:1248-1255 (2022)
DOI:10.1111/jth.15672

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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