Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
ORPHA:3085Malformation syndromeAutosomal recessiveChildhood
Фенотипы (HPO)27
Очень частый (80–99%)11
HP:0000407Sensorineural hearing impairment
HP:0000639Nystagmus
HP:0000771Gynecomastia
HP:0000815Hypergonadotropic hypogonadism
HP:0000842Hyperinsulinemia
HP:0000956Acanthosis nigricans
HP:0001249Intellectual disability
HP:0004322Short stature
HP:0005978Type II diabetes mellitus
HP:0007703Abnormality of retinal pigmentation
HP:0008734Decreased testicular size
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000280Coarse facial features
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000869Secondary amenorrhea
HP:0000958Dry skin
HP:0001156Brachydactyly
HP:0001513Obesity
HP:0001769Broad foot
HP:0001831Short toe
HP:0002750Delayed skeletal maturation
HP:0010562Keloids
Периодический (5–29%)4
HP:0000147Polycystic ovaries
HP:0001272Cerebellar atrophy
HP:0002808Kyphosis
HP:0003307Hyperlordosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)