Lymphangioleiomyomatosis
ORPHA:538DiseaseNot applicableAdult
Ассоциированные гены2
Фенотипы (HPO)36
Очень частый (80–99%)6
HP:0002091Restrictive ventilatory defect
HP:0002094Dyspnea
HP:0002113Pulmonary infiltrates
HP:0012735Cough
HP:0100749Chest pain
HP:0100763Abnormality of the lymphatic system
Частый (30–79%)11
HP:0000008Abnormal morphology of female internal genitalia
HP:0000790Hematuria
HP:0002027Abdominal pain
HP:0002097Emphysema
HP:0002107Pneumothorax
HP:0002716Lymphadenopathy
HP:0006772Renal angiomyolipoma
HP:0010310Chylothorax
HP:0012798Pulmonary lymphangiomyomatosis
HP:0100750Atelectasis
HP:0100804Ungual fibroma
Периодический (5–29%)19
HP:0000238Hydrocephalus
HP:0000648Optic atrophy
HP:0001000Abnormality of skin pigmentation
HP:0001004Lymphedema
HP:0001250Seizure
HP:0001541Ascites
HP:0001945Fever
HP:0002105Hemoptysis
HP:0002205Recurrent respiratory infections
HP:0002239Gastrointestinal hemorrhage
HP:0005562Multiple renal cysts
HP:0009594Retinal hamartoma
HP:0009721Shagreen patch
HP:0009726Renal neoplasm
HP:0011852Chylopericardium
HP:0012086Abnormal urinary color
HP:0012378Fatigue
HP:0012733Macule
HP:0100543Cognitive impairment
Эпидемиология13
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.0135 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Worldwide | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.015 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.17 | United States | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.01 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.19 | Germany | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.21 | Canada | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.25 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.32 | Switzerland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.39 | New Zealand | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.26 | Australia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.25 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.25 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)