Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa.
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
H00226 Glanzmann thrombasthenia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00226 Glanzmann thrombasthenia
Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C
Title
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
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
nt06544 Neuroactive ligand signaling
H01235 Bleeding disorder platelet-type
Immune system
nt06514 Coagulation cascade
H01235 Bleeding disorder platelet-type
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.
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.
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.
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.
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.
