Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
ORPHA:464321DiseaseNot applicableInfancy, Neonatal
Фенотипы (HPO)46
Очень частый (80–99%)5
HP:0001873Thrombocytopenia
HP:0002239Gastrointestinal hemorrhage
HP:0011121Abnormal skin morphology
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0025015Abnormal vascular morphology
Частый (30–79%)5
HP:0002088Abnormal lung morphology
HP:0002170Intracranial hemorrhage
HP:0011354Generalized abnormality of skin
HP:0025474Erythematous plaque
HP:0030350Erythematous papule
Периодический (5–29%)21
HP:0000077Abnormality of the kidney
HP:0000478Abnormality of the eye
HP:0000759Abnormal peripheral nervous system morphology
HP:0001250Seizure
HP:0001342Cerebral hemorrhage
HP:0001392Abnormality of the liver
HP:0001627Abnormal heart morphology
HP:0002011Morphological central nervous system abnormality
HP:0002105Hemoptysis
HP:0002248Hematemesis
HP:0002249Melena
HP:0002573Hematochezia
HP:0002797Osteolysis
HP:0002904Hyperbilirubinemia
HP:0003304Spondylolysis
HP:0009139Osteolysis involving bones of the lower limbs
HP:0011035Abnormal renal cortex morphology
HP:0012735Cough
HP:0012758Neurodevelopmental delay
HP:0031368Intestinal perforation
HP:0045039Osteolysis involving bones of the upper limbs
Очень редкий (1–4%)15
HP:0000573Retinal hemorrhage
HP:0001541Ascites
HP:0001639Hypertrophic cardiomyopathy
HP:0001945Fever
HP:0002134Abnormality of the basal ganglia
HP:0002514Cerebral calcification
HP:0003273Hip contracture
HP:0007902Vitreous hemorrhage
HP:0009830Peripheral neuropathy
HP:0010536Central sleep apnea
HP:0025064Thalamic hemorrhage
HP:0025085Bloody diarrhea
HP:0025420Diffuse alveolar hemorrhage
HP:0031938Abnormal conus terminalis morphology
HP:0040242Muscle 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)