Hutchinson-Gilford progeria syndrome
ORPHA:740DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)93
Очень частый (80–99%)12
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0001525Severe failure to thrive
HP:0001544Prominent umbilicus
HP:0001824Weight loss
HP:0007394Prominent superficial blood vessels
HP:0007485Absence of subcutaneous fat
HP:0008647Pubertal developmental failure in females
HP:0011354Generalized abnormality of skin
HP:0100678Premature skin wrinkling
Частый (30–79%)31
HP:0000050Hypoplastic male external genitalia
HP:0000134Female hypogonadism
HP:0000200Short lingual frenulum
HP:0000218High palate
HP:0000278Retrognathia
HP:0000418Narrow nasal ridge
HP:0000436Abnormality of the nasal tip
HP:0000586Shallow orbits
HP:0000855Insulin resistance
HP:0001376Limitation of joint mobility
HP:0001620Abnormally high-pitched voice
HP:0001633Abnormal mitral valve morphology
HP:0001646Abnormal aortic valve morphology
HP:0001810Dystrophic toenail
HP:0002232Patchy alopecia
HP:0002362Shuffling gait
HP:0002621Atherosclerosis
HP:0002673Coxa valga
HP:0002827Hip dislocation
HP:0002875Exertional dyspnea
HP:0003292Decreased serum leptin
HP:0004482Relative macrocephaly
HP:0005461Craniofacial disproportion
HP:0007418Alopecia totalis
HP:0008391Dystrophic fingernails
HP:0008573Low-frequency sensorineural hearing impairment
HP:0010296Ankyloglossia
HP:0011832Narrow nasal tip
HP:0012569Delayed menarche
HP:0025168Left ventricular diastolic dysfunction
HP:0100679Lack of skin elasticity
Периодический (5–29%)46
HP:0000331Short chin
HP:0000444Convex nasal ridge
HP:0000668Hypodontia
HP:0000678Dental crowding
HP:0000684Delayed eruption of teeth
HP:0000765Abnormal thorax morphology
HP:0000822Hypertension
HP:0000894Short clavicles
HP:0000905Progressive clavicular acroosteolysis
HP:0000961Cyanosis
HP:0001034Hypermelanotic macule
HP:0001297Stroke
HP:0001387Joint stiffness
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0001658Myocardial infarction
HP:0001659Aortic regurgitation
HP:0001714Ventricular hypertrophy
HP:0001718Mitral stenosis
HP:0001757High-frequency sensorineural hearing impairment
HP:0002170Intracranial hemorrhage
HP:0002223Absent eyebrow
HP:0002326Transient ischemic attack
HP:0002758Osteoarthritis
HP:0002781Upper airway obstruction
HP:0004334Dermal atrophy
HP:0004349Reduced bone mineral density
HP:0004380Aortic valve calcification
HP:0004382Mitral valve calcification
HP:0006248Limited wrist movement
HP:0006335Persistence of primary teeth
HP:0006467Limited shoulder movement
HP:0007957Corneal opacity
HP:0008800Limited hip movement
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0009904Prominent ear helix
HP:0010505Limitation of movement at ankles
HP:0010766Ectopic calcification
HP:0010885Avascular necrosis
HP:0011079Impacted tooth
HP:0011457Loss of eyelashes
HP:0012474Carotid artery occlusion
HP:0030002Nocturnal lagophthalmos
HP:0030838Hip pain
HP:0030880Raynaud phenomenon
HP:0200034Papule
Очень редкий (1–4%)4
HP:0001681Angina pectoris
HP:0002092Pulmonary arterial hypertension
HP:0012804Corneal ulceration
HP:0025169Left ventricular systolic dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.025 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.005 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)