X-linked acrogigantism
ORPHA:300373DiseaseX-linked dominantChildhood, Infancy, Neonatal
Фенотипы (HPO)36
Очень частый (80–99%)5
HP:0000098Tall stature
HP:0000845Elevated circulating growth hormone concentration
HP:0000870Increased circulating prolactin concentration
HP:0012503Abnormality of the pituitary gland
HP:0030269Increased circulating insulin-like growth factor 1 concentration
Частый (30–79%)12
HP:0000280Coarse facial features
HP:0000975Hyperhidrosis
HP:0001072Thickened skin
HP:0002591Polyphagia
HP:0002893Pituitary adenoma
HP:0004924Abnormal oral glucose tolerance
HP:0008283Fasting hyperinsulinemia
HP:0010535Sleep apnea
HP:0025163Abnormality of optic chiasm morphology
HP:0025267Snoring
HP:0031098Decreased thyroid-stimulating hormone level
HP:0031418Increased body mass index
Периодический (5–29%)17
HP:0000135Hypogonadism
HP:0000699Diastema
HP:0000823Delayed puberty
HP:0000873Diabetes insipidus
HP:0000924Abnormality of the skeletal system
HP:0000956Acanthosis nigricans
HP:0001123Visual field defect
HP:0001176Large hands
HP:0001250Seizure
HP:0001251Ataxia
HP:0001626Abnormality of the cardiovascular system
HP:0001833Long foot
HP:0002315Headache
HP:0003270Abdominal distention
HP:0011748Adrenocorticotropic hormone deficiency
HP:0012505Enlarged pituitary gland
HP:0040075Hypopituitarism
Очень редкий (1–4%)2
HP:0000707Abnormality of the nervous system
HP:0001249Intellectual disability
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 33 | 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)