Congenital fibrinogen deficiency
ORPHA:335DiseaseAutosomal dominant, Autosomal recessiveAll ages
Фенотипы (HPO)26
Очень частый (80–99%)26
HP:0000054Micropenis
HP:0000225Gingival bleeding
HP:0000519Developmental cataract
HP:0000568Microphthalmia
HP:0000961Cyanosis
HP:0000978Bruising susceptibility
HP:0001649Tachycardia
HP:0001667Right ventricular hypertrophy
HP:0001712Left ventricular hypertrophy
HP:0001892Abnormal bleeding
HP:0001933Subcutaneous hemorrhage
HP:0001945Fever
HP:0002027Abdominal pain
HP:0002179Opisthotonus
HP:0002580Volvulus
HP:0007185Loss of consciousness
HP:0008151Prolonged prothrombin time
HP:0008734Decreased testicular size
HP:0009723Abnormality of the subungual region
HP:0011029Internal hemorrhage
HP:0011884Abnormal umbilical stump bleeding
HP:0012223Splenic rupture
HP:0012886Hemorrhagic ovarian cyst
HP:0030680Abnormal cardiovascular system morphology
HP:0100759Clubbing of fingers
HP:0100845Anaphylactic shock
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)