LMNA-related cardiocutaneous progeria syndrome
ORPHA:363618DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)27
HP:0000561Absent eyelashes
HP:0000822Hypertension
HP:0001635Congestive heart failure
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0001677Coronaryartery atherosclerosis
HP:0001714Ventricular hypertrophy
HP:0002097Emphysema
HP:0002155Hypertriglyceridemia
HP:0002170Intracranial hemorrhage
HP:0002216Premature graying of hair
HP:0002223Absent eyebrow
HP:0002289Alopecia universalis
HP:0002616Aortic root aneurysm
HP:0002671Basal cell carcinoma
HP:0003124Hypercholesterolemia
HP:0004382Mitral valve calcification
HP:0004414Abnormality of the pulmonary artery
HP:0006739Squamous cell carcinoma of the skin
HP:0006766Papillary renal cell carcinoma
HP:0008070Sparse hair
HP:0011040Abnormality of the intrahepatic bile duct
HP:0012397Aortic atherosclerosis
HP:0030445Pulmonary carcinoid tumor
HP:0100324Scleroderma
HP:0100578Lipoatrophy
HP:0100678Premature skin wrinkling
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)