Bleeding disorder due to CalDAG-GEFI deficiency

Orpha code: 420566OMIM code: 615888

Definicja

Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.

Disease data
Klasyfikacja

Disease

Synonimy
Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Skaza krwotoczna z powodu niedoboru czynnika wymiany nukleotydów guaninowych-1 regulowanego wapniem i DAG
Kod ORPHA
420566
Kod OMIM
615888
Kod ICD10
D69.1
Kod ICD11
-

No additional description.

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