Pituitary gigantism
ORPHA:99725DiseaseAutosomal dominant, X-linked dominantAdolescent, Childhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)20
Очень частый (80–99%)16
HP:0000098Tall stature
HP:0000280Coarse facial features
HP:0000303Mandibular prognathia
HP:0000845Elevated circulating growth hormone concentration
HP:0000975Hyperhidrosis
HP:0001176Large hands
HP:0001639Hypertrophic cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0001833Long foot
HP:0002007Frontal bossing
HP:0005616Accelerated skeletal maturation
HP:0005978Type II diabetes mellitus
HP:0011407Proportionate tall stature
HP:0011760Pituitary growth hormone cell adenoma
HP:0012411Premature pubarche
HP:0030269Increased circulating insulin-like growth factor 1 concentration
Частый (30–79%)3
HP:0000141Amenorrhea
HP:0000870Increased circulating prolactin concentration
HP:0006767Pituitary prolactin cell adenoma
Периодический (5–29%)1
HP:0100829Galactorrhea
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)