Familial isolated hypoparathyroidism
ORPHA:2238DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveAll ages
Фенотипы (HPO)19
Очень частый (80–99%)5
HP:0000829Hypoparathyroidism
HP:0001250Seizure
HP:0002901Hypocalcemia
HP:0003198Myopathy
HP:0100530Abnormality of calcium-phosphate metabolism
Частый (30–79%)9
HP:0000518Cataract
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0001324Muscle weakness
HP:0002514Cerebral calcification
HP:0002905Hyperphosphatemia
HP:0003394Muscle spasm
HP:0003472Hypocalcemic tetany
HP:0011675Arrhythmia
Периодический (5–29%)5
HP:0007352Cerebellar calcifications
HP:0000112Nephropathy
HP:0004322Short stature
HP:0025425Laryngospasm
HP:0031627Globus pallidus calcification
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)