Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

Orpha code: 178396OMIM code:

Definition

A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.

Disease data
Classification

Disease

ORPHA code
178396
OMIM code
-
ICD10 code
D68.8
ICD11 code
5C5A

No additional description.

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