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Parathyroid carcinoma

ORPHA:143DiseaseNot applicableAdult

Ассоциированные гены (1)

CDC73
cell division cycle 73
Disease-causing somatic mutation(s) in
OMIM: 607393

Фенотипы (36)

Облигатный (100%)3
HP:0003072Hypercalcemia
HP:0006780Parathyroid carcinoma
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%)11
HP:0000121Nephrocalcinosis
HP:0000131Uterine leiomyoma
HP:0000787Nephrolithiasis
HP:0000939Osteoporosis
HP:0001609Hoarse voice
HP:0001824Weight loss
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

Эпидемиология (27)

Annual incidence
<1 / 1 000 000
Europe
Point prevalence
1-9 / 1 000 000
Europe
Lifetime Prevalence
1-9 / 1 000 000
Europe
Annual incidence
<1 / 1 000 000
United States
Annual incidence
<1 / 1 000 000
Austria
Annual incidence
<1 / 1 000 000
Belgium
Annual incidence
<1 / 1 000 000
Bulgaria
Annual incidence
<1 / 1 000 000
Croatia
Annual incidence
<1 / 1 000 000
Czech Republic
Annual incidence
<1 / 1 000 000
Estonia
Annual incidence
<1 / 1 000 000
Finland
Annual incidence
<1 / 1 000 000
Germany
Annual incidence
<1 / 1 000 000
Iceland
Annual incidence
<1 / 1 000 000
Ireland
Annual incidence
<1 / 1 000 000
Italy
Annual incidence
<1 / 1 000 000
Latvia
Annual incidence
<1 / 1 000 000
Lithuania
Annual incidence
<1 / 1 000 000
Malta
Annual incidence
<1 / 1 000 000
Norway
Annual incidence
<1 / 1 000 000
Poland
Annual incidence
<1 / 1 000 000
Portugal
Annual incidence
<1 / 1 000 000
Slovakia
Annual incidence
<1 / 1 000 000
Slovenia
Annual incidence
<1 / 1 000 000
Spain
Annual incidence
<1 / 1 000 000
Switzerland
Annual incidence
<1 / 1 000 000
Netherlands
Annual incidence
<1 / 1 000 000
United Kingdom

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы