RIN2 syndrome
ORPHA:217335Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)16
HP:0000159Abnormal lip morphology
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000280Coarse facial features
HP:0000343Long philtrum
HP:0000494Downslanted palpebral fissures
HP:0000974Hyperextensible skin
HP:0001007Hirsutism
HP:0001382Joint hypermobility
HP:0001582Redundant skin
HP:0001763Pes planus
HP:0002209Sparse scalp hair
HP:0002650Scoliosis
HP:0011232Infra-orbital fold
HP:0012724Upper eyelid edema
HP:0040079Irregular dentition
Частый (30–79%)5
HP:0000766Abnormal sternum morphology
HP:0000978Bruising susceptibility
HP:0001537Umbilical hernia
HP:0001620Abnormally high-pitched voice
HP:0100543Cognitive impairment
Периодический (5–29%)7
HP:0000028Cryptorchidism
HP:0000815Hypergonadotropic hypogonadism
HP:0001156Brachydactyly
HP:0002659Increased susceptibility to fractures
HP:0004942Aortic aneurysm
HP:0008209Premature ovarian insufficiency
HP:0011003High myopia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)