Hereditary combined deficiency of vitamin K-dependent clotting factors
ORPHA:98434DiseaseAutosomal recessiveAdolescent, Adult, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)31
Частый (30–79%)10
HP:0000978Bruising susceptibility
HP:0001892Abnormal bleeding
HP:0003645Prolonged partial thromboplastin time
HP:0004855Reduced protein S activity
HP:0005543Reduced protein C activity
HP:0008151Prolonged prothrombin time
HP:0008169Reduced factor VII activity
HP:0008321Reduced factor X activity
HP:0011858Reduced factor IX activity
HP:0040226Decreased level of heparin co-factor II
Периодический (5–29%)16
HP:0002621Atherosclerosis
HP:0004646Hypoplasia of the nasal bone
HP:0005261Joint hemorrhage
HP:0006118Shortening of all distal phalanges of the fingers
HP:0010655Epiphyseal stippling
HP:0011890Prolonged bleeding following procedure
HP:0011891Post-partum hemorrhage
HP:0012541Cephalohematoma
HP:0030137Prolonged bleeding following circumcision
HP:0031364Ecchymosis
HP:0000132Menorrhagia
HP:0000421Epistaxis
HP:0000939Osteoporosis
HP:0000973Cutis laxa
HP:0001102Angioid streaks of the fundus
HP:0002170Intracranial hemorrhage
Очень редкий (1–4%)5
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0002239Gastrointestinal hemorrhage
HP:0004415Pulmonary artery stenosis
HP:0011884Abnormal umbilical stump bleeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 272 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)