HELLP syndrome
ORPHA:244242DiseaseMultigenic/multifactorialAdult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CD46 | CD46 molecule | Candidate gene tested in | gene with protein product | 120920 |
| CFH | complement factor H | Candidate gene tested in | gene with protein product | 134370 |
| CFI | complement factor I | Candidate gene tested in | gene with protein product | 217030 |
| HELLPAR | HELLP associated long non-coding RNA | Major susceptibility factor in | Non-coding RNA | 614985 |
Фенотипы (HPO)32
Облигатный (100%)2
HP:0001873Thrombocytopenia
HP:0002910Elevated circulating hepatic transaminase concentration
Очень частый (80–99%)1
HP:0001878Hemolytic anemia
Частый (30–79%)9
HP:0000093Proteinuria
HP:0002315Headache
HP:0004324Increased body weight
HP:0007430Generalized edema
HP:0008071Maternal hypertension
HP:0008151Prolonged prothrombin time
HP:0011900Hypofibrinogenemia
HP:0012378Fatigue
HP:0100602Preeclampsia
Периодический (5–29%)17
HP:0001058Poor wound healing
HP:0001937Microangiopathic hemolytic anemia
HP:0002013Vomiting
HP:0002018Nausea
HP:0002027Abdominal pain
HP:0002202Pleural effusion
HP:0002615Hypotension
HP:0003418Back pain
HP:0003641Hemoglobinuria
HP:0005521Disseminated intravascular coagulation
HP:0011419Placental abruption
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0025547Decreased mean corpuscular hemoglobin concentration
HP:0030834Shoulder pain
HP:0100598Pulmonary edema
HP:0100601Eclampsia
HP:0410019Epigastric pain
Очень редкий (1–4%)3
HP:0001342Cerebral hemorrhage
HP:0001919Acute kidney injury
HP:0011029Internal hemorrhage
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)