Familial isolated hyperparathyroidism
ORPHA:99879DiseaseAutosomal dominantAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GCM2 | glial cells missing transcription factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 603716 |
| CDC73 | cell division cycle 73 | Disease-causing germline mutation(s) in | gene with protein product | 607393 |
| MEN1 | menin 1 | Disease-causing germline mutation(s) in | gene with protein product | 613733 |
Фенотипы (HPO)13
Очень частый (80–99%)11
HP:0000121Nephrocalcinosis
HP:0000934Chondrocalcinosis
HP:0000938Osteopenia
HP:0002148Hypophosphatemia
HP:0002150Hypercalciuria
HP:0002897Parathyroid adenoma
HP:0003072Hypercalcemia
HP:0003109Hyperphosphaturia
HP:0003165Elevated circulating parathyroid hormone level
HP:0008200Primary hyperparathyroidism
HP:0040160Generalized osteoporosis
Периодический (5–29%)2
HP:0000083Renal insufficiency
HP:0011458Abdominal symptom
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)