Bleeding disorder due to CalDAG-GEFI deficiency

Orpha code: 420566OMIM code: 615888

Definition

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
Classification

Disease

Synonyms
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
ORPHA code
420566
OMIM code
615888
ICD10 code
D69.1
ICD11 code
-

No additional description.

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