Multiple endocrine neoplasia type 4
ORPHA:276152DiseaseAutosomal dominant, Not applicableAdult
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)6
HP:0000818Abnormality of the endocrine system
HP:0000843Hyperparathyroidism
HP:0002897Parathyroid adenoma
HP:0003072Hypercalcemia
HP:0003165Elevated circulating parathyroid hormone level
HP:0008208Parathyroid hyperplasia
Частый (30–79%)21
HP:0000825Hyperinsulinemic hypoglycemia
HP:0000845Elevated circulating growth hormone concentration
HP:0000854Thyroid adenoma
HP:0001031Subcutaneous lipoma
HP:0002014Diarrhea
HP:0002044Zollinger-Ellison syndrome
HP:0002574Episodic abdominal pain
HP:0002893Pituitary adenoma
HP:0004398Peptic ulcer
HP:0006767Pituitary prolactin cell adenoma
HP:0006772Renal angiomyolipoma
HP:0008256Adrenocortical adenoma
HP:0008283Fasting hyperinsulinemia
HP:0010615Angiofibromas
HP:0011760Pituitary growth hormone cell adenoma
HP:0011761Pituitary null cell adenoma
HP:0012091Abnormality of pancreas physiology
HP:0012197Insulinoma
HP:0030445Pulmonary carcinoid tumor
HP:0100633Esophagitis
HP:0100634Neuroendocrine neoplasm
Периодический (5–29%)11
HP:0003118Increased circulating cortisol level
HP:0006780Parathyroid carcinoma
HP:0007449Confetti-like hypopigmented macules
HP:0008291Pituitary corticotropic cell adenoma
HP:0010783Erythema
HP:0010788Testicular neoplasm
HP:0012030Increased urinary cortisol level
HP:0012334Extrahepatic cholestasis
HP:0030079Cervix cancer
HP:0030688Increased glucagon level
HP:0100570Carcinoid tumor
Очень редкий (1–4%)1
HP:0100522Thymoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)