Glanzmann Thrombasthenia 1 (GT1)

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MedlinePlus Genetics: ⁴² Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.

MalaCards based summary: Glanzmann Thrombasthenia 1, also known as glanzmann thrombasthenia, is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 24. An important gene associated with Glanzmann Thrombasthenia 1 is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Signal Transduction and Disease. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, tonsil and bone marrow, and related phenotypes are prolonged bleeding time and spontaneous, recurrent epistaxis

GARD: ¹⁹ Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. This condition is inherited in an autosomal recessive fashion and is caused by genetic changes in either the ITGA2B or ITGB3 genes.

UniProtKB/Swiss-Prot: ⁷³ A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive.

OMIM®: ⁵⁷ Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997). (273800) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material basis in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.

Orphanet: ⁵⁸ Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

Wikipedia: ⁷⁵ Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy... more...

Clinical features from OMIM®:

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