Hyperparathyroidism-jaw tumor syndrome
ORPHA:99880DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)34
Облигатный (100%)3
HP:0002897Parathyroid adenoma
HP:0003072Hypercalcemia
HP:0008200Primary hyperparathyroidism
Очень частый (80–99%)4
HP:0002148Hypophosphatemia
HP:0002150Hypercalciuria
HP:0003165Elevated circulating parathyroid hormone level
HP:0011766Abnormality of the parathyroid morphology
Частый (30–79%)9
HP:0000121Nephrocalcinosis
HP:0000131Uterine leiomyoma
HP:0000787Nephrolithiasis
HP:0000939Osteoporosis
HP:0001959Polydipsia
HP:0002015Dysphagia
HP:0010614Fibroma
HP:0012232Shortened QT interval
HP:0012378Fatigue
Периодический (5–29%)13
HP:0000083Renal insufficiency
HP:0000107Renal cyst
HP:0000934Chondrocalcinosis
HP:0001324Muscle weakness
HP:0001733Pancreatitis
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0002315Headache
HP:0002574Episodic abdominal pain
HP:0002653Bone pain
HP:0004398Peptic ulcer
HP:0008696Renal hamartoma
HP:0200025Mandibular pain
Очень редкий (1–4%)5
HP:0002667Nephroblastoma
HP:0002890Thyroid carcinoma
HP:0006725Pancreatic adenocarcinoma
HP:0010788Testicular neoplasm
HP:0012032Lipoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)