Multiple endocrine neoplasia type 1
ORPHA:652DiseaseAutosomal dominant, Not applicableAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CDKN1B | cyclin dependent kinase inhibitor 1B | Candidate gene tested in | gene with protein product | 600778 |
| CDKN2B | cyclin dependent kinase inhibitor 2B | Candidate gene tested in | gene with protein product | 600431 |
| MEN1 | menin 1 | Disease-causing germline mutation(s) in | gene with protein product | 613733 |
Фенотипы (HPO)74
Очень частый (80–99%)5
HP:0003072Hypercalcemia
HP:0008200Primary hyperparathyroidism
HP:0008208Parathyroid hyperplasia
HP:0010615Angiofibromas
HP:0031058Impairment of activities of daily living
Частый (30–79%)18
HP:0000802Impotence
HP:0000849Adrenocortical abnormality
HP:0001012Multiple lipomas
HP:0001824Weight loss
HP:0002014Diarrhea
HP:0002020Gastroesophageal reflux
HP:0002027Abdominal pain
HP:0002044Zollinger-Ellison syndrome
HP:0002150Hypercalciuria
HP:0002893Pituitary adenoma
HP:0002894Neoplasm of the pancreas
HP:0004349Reduced bone mineral density
HP:0004398Peptic ulcer
HP:0005605Large cafe-au-lait macules with irregular margins
HP:0006767Pituitary prolactin cell adenoma
HP:0040306Decreased male libido
HP:0100829Galactorrhea
HP:0500167Hypergastrinemia
Периодический (5–29%)37
HP:0000141Amenorrhea
HP:0000169Gingival fibromatosis
HP:0000716Depression
HP:0000736Short attention span
HP:0000787Nephrolithiasis
HP:0000822Hypertension
HP:0000845Elevated circulating growth hormone concentration
HP:0000853Goiter
HP:0001254Lethargy
HP:0001289Confusion
HP:0001293Cranial nerve compression
HP:0001579Primary hypercortisolism
HP:0001944Dehydration
HP:0002013Vomiting
HP:0002018Nausea
HP:0002019Constipation
HP:0002039Anorexia
HP:0002248Hematemesis
HP:0002249Melena
HP:0002315Headache
HP:0002588Duodenal ulcer
HP:0002659Increased susceptibility to fractures
HP:0002797Osteolysis
HP:0002858Meningioma
HP:0002890Thyroid carcinoma
HP:0003118Increased circulating cortisol level
HP:0006723Intestinal carcinoid
HP:0006744Adrenocortical carcinoma
HP:0007449Confetti-like hypopigmented macules
HP:0011407Proportionate tall stature
HP:0011760Pituitary growth hormone cell adenoma
HP:0012197Insulinoma
HP:0012232Shortened QT interval
HP:0030405Pancreatic endocrine tumor
HP:0032044Decreased vigilance
HP:0040085Abnormal circulating aldosterone
HP:0100570Carcinoid tumor
Очень редкий (1–4%)14
HP:0001259Coma
HP:0002666Pheochromocytoma
HP:0002888Ependymoma
HP:0003144Increased serum serotonin
HP:0003528Elevated calcitonin
HP:0006780Parathyroid carcinoma
HP:0008291Pituitary corticotropic cell adenoma
HP:0011151Obtundation status
HP:0011759Pituitary gonadotropic cell adenoma
HP:0011761Pituitary null cell adenoma
HP:0011762Pituitary thyrotropic cell adenoma
HP:0030404Glucagonoma
HP:0030445Pulmonary carcinoid tumor
HP:0100522Thymoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)