III. Causes: Congenital Platelet Dysfunction

  1. Von Willebrand's Disease
  2. Glanzmann's Thrombasthenia (Autosomal Recessive)
    1. Platelet membrane deficiency Glycoprotein IIb, IIIa
    2. Defective binding of platelet Fibrinogen
    3. Decreased platelet aggregation
  3. Bernard-Soulier Disease (Autosomal Recessive)
    1. Platelet membrane deficiency Glycoprotein Ib
    2. Coagulation Factor X and Factor V deficiency
    3. Large platelets and decreased platelet aggregation
  4. Storage Pool Disease
    1. Dense granule and/or alpha granule deficiency
    2. Defective platelet release of ADP and Serotonin

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Ontology: Thrombasthenia (C0040015)

Definition (MSHCZE) Autozomálně recesivně dědičná trombocytopatie se závažnými projevy krvácení. Podstatou je defekt destičkových glykoproteinů IIb/IIIa, které jsou nutné pro agregaci destiček během zástavy krvácení, kvalita trombu je snížená. Je prodloužená doba krvácení, počet trombocytů je normální.(cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (NCI) A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet aggregation, resulting in bleeding.
Definition (MSH) A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).
Definition (CSP) platelet abnormality characterized by defective clot formation, impaired aggregation, and prolonged bleeding time; other manifestations include nosebleeds, inappropriate bruising, and excessive bleeding.
Concepts Disease or Syndrome (T047)
MSH D013915
ICD10 D69.1
SnomedCT 32942005, 191310008, 30577005
English Glanzmann Thrombasthenia, Thrombasthenia, Glanzmann, Thrombasthenias, THROMBOASTHENIA, Thromboasthenia, Glanzsmann's disease, Glycoprotein IIb/IIIa defect, Heredit.haemorr.thrombasthenia, Glanzmann's disease, GT, Glanzmann thrombasthenia, PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY, PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF, GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF, GP IIb-IIIa COMPLEX, DEFICIENCY OF, Thrombasthenia, thromboasthenia (diagnosis), thromboasthenia, thrombocytasthenia, thrombocytasthenia (diagnosis), hereditary thromboasthenia, hereditary thromboasthenia (diagnosis), Hereditary thrombasthenia, Thrombasthenia of Glanzmann and Naegeli, Thrombasthenia [Disease/Finding], glanzmann thrombasthenia, glanzmann's thrombasthenia, glanzmann's disease, thrombasthenia, glanzmanns thrombasthenia, BDPLT2, BLEEDING DISORDER, PLATELET-TYPE, 2, GLANZMANN THROMBASTHENIA, THROMBASTHENIA OF GLANZMANN AND NAEGELI, Glycoprotein IIb/IIIa defect (disorder), Glanzmann thromboasthenia, Glanzmann-Naegeli disorder, Glanzmann's syndrome, Hereditary haemorrhagic thrombasthenia, Hereditary hemorrhagic thrombasthenia, Glanzmann's thrombasthenia, Glanzmann's thrombasthenia (disorder), Hereditary thromboasthenia, Hereditary thromboasthenia, NOS, Thromboasthenia, NOS, Thrombasthenia, NOS, Thrombasthenia, hemorrhagic, Thrombasthenia, hereditary, Thrombocytasthenia
Spanish TROMBASTENIA, Tromboastenia hereditaria, Enfermedad de Glanzmann, Tromboastenia, trombastenia de Glanzmann (trastorno), trombastenia de Glanzmann, tromboastenia hereditaria (trastorno), tromboastenia hereditaria, tromboastenia, trastorno de Glanzmann - Naegeli, tromboastenia de Glanzmann, Trombastenia, Trombastenia de Glanzmann
German THROMBASTHENIE, Glanzmann-Krankheit +, hereditaere Thrombasthenie, Glanzmann-Naegeli-Syndrom, Glanzmann-Thrombasthenie, Thrombasthenie
Italian Trombastenia, Tromboastenia ereditaria, Malattia di Glanzmann, Tromboastenia di Glanzmann, Tromboastenia
Dutch erfelijke trombastenie, tromboastenie, ziekte van Glanzmann, trombasthenie, Asthenie, tromb-, Glanzmann-syndroom, Trombasthenie
French Maladie de Glanzmann, Thromboasthénie, THROMBASTHENIE, Thrombasthénie de Glanzmann-Naegeli, Thrombasthénie héréditaire, Thrombasthénie, Purpura hémorragique héréditaire, Thrombasthénie de Glanzmann, Thrombasthénie hémorragique héréditaire
Portuguese Doença de Glanzmann, Trombastenia hereditária, TROMBOPLASTINEMIA, Tromboastenia de Glanzmann, Trombastenia, Trombastenia de Glanzmann
Swedish Trombasteni
Japanese イデンセイケッショウバンムリョクショウ, ケッショウバンムリョクショウ, グランツマンビョウ, Glanzmann血小板無力症, 血小板無力症, グランツマン病, グランツマン血小板無力症, 栓球無力症, 遺伝性血小板無力症, 栓球無力
Czech trombastenie, Dědičná trombastenie, Trombastenie, Glanzmannova nemoc, Glanzmannův-Naegeliho syndrom, Glanzmannova trombastenie, Naegeliho syndrom trombocyt
Finnish Trombastenia
Russian TROMBASTENIIA, TROMBASTENIIA GLANTSMANNA, ТРОМБАСТЕНИЯ, ТРОМБАСТЕНИЯ ГЛАНЦМАННА
Polish Tromboastenia, Trombastenia, Niewydolność płytek krwi, Zaburzenia funkcji komórek płytkowych, Zaburzenia funkcji płytek krwi
Hungarian thrombasthaenia, Öröklött thrombasthaenia, Thromboasthenia, Glanzmann-betegség
Norwegian Glanzmanns sykdom, Tromboasteni, Trombasteni, Glanzmanns trombasteni