Non-acquired panhypopituitarism
ORPHA:90695DiseaseAutosomal recessive, X-linked recessiveAll ages
Ассоциированные гены2
Фенотипы (HPO)27
Облигатный (100%)1
HP:0040075Hypopituitarism
Частый (30–79%)17
HP:0000044Hypogonadotropic hypogonadism
HP:0000141Amenorrhea
HP:0000457Depressed nasal ridge
HP:0000789Infertility
HP:0000824Decreased response to growth hormone stimulation test
HP:0001510Growth delay
HP:0001943Hypoglycemia
HP:0002615Hypotension
HP:0002920Decreased circulating ACTH level
HP:0004322Short stature
HP:0008245Pituitary hypothyroidism
HP:0008734Decreased testicular size
HP:0009888Abnormality of secondary sexual hair
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0010627Anterior pituitary hypoplasia
HP:0012378Fatigue
HP:0040086Abnormal prolactin level
Периодический (5–29%)7
HP:0000823Delayed puberty
HP:0000839Pituitary dwarfism
HP:0000938Osteopenia
HP:0002019Constipation
HP:0002750Delayed skeletal maturation
HP:0005625Osteoporosis of vertebrae
HP:0008187Absence of secondary sex characteristics
Очень редкий (1–4%)2
HP:0011755Ectopic posterior pituitary
HP:0012731Ectopic anterior pituitary gland
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 41 | 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)