Glanzmann Thrombasthenia 1 (GT1)

Alias:
Glanzmann Thrombasthenia
Glanzmann's Thrombasthenia
Deficiency of Platelet Fibrinogen Receptor
Platelet Glycoprotein Iib-Iiia Deficiency
Thrombasthenia of Glanzmann and Naegeli
Bdplt2
Deficiency of Glycoprotein Complex Iib-Iiia
Glycoprotein Complex Iib-Iiia Deficiency
Platelet Fibrinogen Receptor Deficiency
Glycoprotein Iib/iiia Defect
Thrombasthenia
Gt1
Hereditary Hemorrhagic Thrombasthenia
Bleeding Disorder, Platelet-Type, 2
Deficiency of Gp Iib-Iiia Complex
Platelet-Type Bleeding Disorder 2
Bleeding Disorder Platelet-Type 2
Glanzmann Thrombasthenia, Type a
Gp Iib-Iiia Complex Deficiency
Glanzmann-Naegeli Disorder
Hereditary Thrombasthenia
Thrombocytasthenia
Glanzmann Disease
Gt
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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 Integrin Pathway and PI3K-Akt signaling pathway. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin and tonsil, and related phenotypes are prolonged bleeding time and spontaneous, recurrent epistaxis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
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43
371
141

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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