Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
ORPHA:2235DiseaseUnknownNo data available
Фенотипы (HPO)20
Облигатный (100%)3
HP:0000044Hypogonadotropic hypogonadism
HP:0000510Rod-cone dystrophy
HP:0000580Pigmentary retinopathy
Очень частый (80–99%)12
HP:0000144Decreased fertility
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0000830Anterior hypopituitarism
HP:0000939Osteoporosis
HP:0002750Delayed skeletal maturation
HP:0003164Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency
HP:0003187Breast hypoplasia
HP:0008187Absence of secondary sex characteristics
HP:0008202Reduced circulating prolactin concentration
HP:0008240Secondary growth hormone deficiency
HP:0008724Hypoplasia of the ovary
Частый (30–79%)5
HP:0000164Abnormality of the dentition
HP:0001513Obesity
HP:0002757Recurrent fractures
HP:0004322Short stature
HP:0004349Reduced bone mineral density
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)