Congenital factor XIII deficiency
ORPHA:331DiseaseAutosomal recessive, Not applicableAll ages
Ассоциированные гены2
Фенотипы (HPO)26
Очень частый (80–99%)3
HP:0008357Reduced factor XIII activity
HP:0011884Abnormal umbilical stump bleeding
HP:0030657Umbilical cord hematoma
Частый (30–79%)7
HP:0000978Bruising susceptibility
HP:0001342Cerebral hemorrhage
HP:0001933Subcutaneous hemorrhage
HP:0005261Joint hemorrhage
HP:0007420Spontaneous hematomas
HP:0012233Intramuscular hematoma
HP:0030140Oral cavity bleeding
Периодический (5–29%)13
HP:0000132Menorrhagia
HP:0000225Gingival bleeding
HP:0000421Epistaxis
HP:0001058Poor wound healing
HP:0001934Persistent bleeding after trauma
HP:0004846Prolonged bleeding after surgery
HP:0006298Prolonged bleeding after dental extraction
HP:0011889Bleeding with minor or no trauma
HP:0011891Post-partum hemorrhage
HP:0030137Prolonged bleeding following circumcision
HP:0031364Ecchymosis
HP:0040232Delayed onset bleeding
HP:0200067Recurrent spontaneous abortion
Очень редкий (1–4%)3
HP:0001399Hepatic failure
HP:0002037Inflammation of the large intestine
HP:0012324Myeloid leukemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.04 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.05 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)