Glanzmann thrombasthenia
- Synonyms
- BLEEDING DISORDER, PLATELET-TYPE, 2; Diacyclothrombopathia 2B 3A; Glanzmann thrombasthenia type A; Glanzmann's thrombasthenia; PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia; Thrombasthenia of Glanzmann and Naegeli; Thrombasthenia of Glanzmann and Naegeli, ITGA2B-Related; Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormal platelet count
Abnormal platelet count
- MedGen UID: 488925
- Concept ID: C0580317
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Decreased platelet glycoprotein IIb-IIIa
Decreased platelet glycoprotein IIb-IIIa
- MedGen UID: 892761
- Concept ID: C4021767
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Epistaxis
Epistaxis
- MedGen UID: 4996
- Concept ID: C0014591
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Excessive bleeding from superficial cuts
Excessive bleeding from superficial cuts
- MedGen UID: 868218
- Concept ID: C4022610
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Gingival bleeding
Gingival bleeding
- MedGen UID: 42218
- Concept ID: C0017565
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Impaired ADP-induced platelet aggregation
Impaired ADP-induced platelet aggregation
- MedGen UID: 870824
- Concept ID: C4025282
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired clot retraction
Impaired clot retraction
- MedGen UID: 1376447
- Concept ID: C4476985
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired collagen-induced platelet aggregation
Impaired collagen-induced platelet aggregation
- MedGen UID: 870264
- Concept ID: C4024703
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired epinephrine-induced platelet aggregation
Impaired epinephrine-induced platelet aggregation
- MedGen UID: 870285
- Concept ID: C4024727
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired platelet aggregation
Impaired platelet aggregation
- MedGen UID: 383786
- Concept ID: C1855853
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired ristocetin-induced platelet aggregation
Impaired ristocetin-induced platelet aggregation
- MedGen UID: 868749
- Concept ID: C4023154
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Menorrhagia
Menorrhagia
- MedGen UID: 44358
- Concept ID: C0025323
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Prolonged bleeding time
Prolonged bleeding time
- MedGen UID: 56231
- Concept ID: C0151529
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Abnormal platelet count
- Abnormality of the cardiovascular system
- Intracranial hemorrhage
Intracranial hemorrhage
- MedGen UID: 101799
- Concept ID: C0151699
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Subdural hemorrhage
Subdural hemorrhage
- MedGen UID: 6775
- Concept ID: C0018946
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Intracranial hemorrhage
- Abnormality of the digestive system
- Gastrointestinal hemorrhage
Gastrointestinal hemorrhage
- MedGen UID: 8971
- Concept ID: C0017181
- Finding: Pathologic Function
Abnormality of the digestive system
- Gastrointestinal hemorrhage
- Abnormality of the integument
- Bruising susceptibility
Bruising susceptibility
- MedGen UID: 140849
- Concept ID: C0423798
- Finding: Finding
Abnormality of the integument
- Ecchymosis
Ecchymosis
- MedGen UID: 8524
- Concept ID: C0013491
- Finding: Finding
Abnormality of the integument
- Purpura
Purpura
- MedGen UID: 19584
- Concept ID: C0034150
- Finding: Disease or Syndrome
Abnormality of the integument
- Bruising susceptibility
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