Progeria-short stature-pigmented nevi syndrome
ORPHA:2959Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)56
Очень частый (80–99%)48
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000193Bifid uvula
HP:0000252Microcephaly
HP:0000320Bird-like facies
HP:0000347Micrognathia
HP:0000408Progressive sensorineural hearing impairment
HP:0000518Cataract
HP:0000529Progressive visual loss
HP:0000585Band keratopathy
HP:0000668Hypodontia
HP:0000689Dental malocclusion
HP:0000815Hypergonadotropic hypogonadism
HP:0000823Delayed puberty
HP:0000831Insulin-resistant diabetes mellitus
HP:0000938Osteopenia
HP:0001156Brachydactyly
HP:0001397Hepatic steatosis
HP:0001518Small for gestational age
HP:0001592Selective tooth agenesis
HP:0001596Alopecia
HP:0001620Abnormally high-pitched voice
HP:0002020Gastroesophageal reflux
HP:0002136Broad-based gait
HP:0002162Low posterior hairline
HP:0002360Sleep abnormality
HP:0002721Immunodeficiency
HP:0002828Multiple joint contractures
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003401Paresthesia
HP:0003808Abnormal muscle tone
HP:0004322Short stature
HP:0004429Recurrent viral infections
HP:0005115Supraventricular arrhythmia
HP:0005320Lack of facial subcutaneous fat
HP:0005328Progeroid facial appearance
HP:0005403Decreased total T cell count
HP:0007481Hyperpigmented nevi
HP:0007495Prematurely aged appearance
HP:0008209Premature ovarian insufficiency
HP:0008214Decreased serum estradiol
HP:0009882Short distal phalanx of finger
HP:0010536Central sleep apnea
HP:0010663Abnormality of thalamus morphology
HP:0025124Fragile teeth
HP:0040171Decreased serum testosterone concentration
HP:0100543Cognitive impairment
HP:0100785Insomnia
Периодический (5–29%)8
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001935Microcytic anemia
HP:0002572Episodic vomiting
HP:0002664Neoplasm
HP:0002894Neoplasm of the pancreas
HP:0002943Thoracic scoliosis
HP:0040160Generalized osteoporosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)