Multiple endocrine neoplasia type 2
ORPHA:653DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)48
Очень частый (80–99%)1
HP:0002865Medullary thyroid carcinoma
Частый (30–79%)18
HP:0000739Anxiety
HP:0000975Hyperhidrosis
HP:0000980Pallor
HP:0001962Palpitations
HP:0002014Diarrhea
HP:0002315Headache
HP:0002640Hypertension associated with pheochromocytoma
HP:0002666Pheochromocytoma
HP:0003345Elevated urinary norepinephrine
HP:0003528Elevated calcitonin
HP:0003639Elevated urinary epinephrine
HP:0008208Parathyroid hyperplasia
HP:0011781Thyroid C cell hyperplasia
HP:0011976Elevated urinary catecholamines
HP:0011978Elevated urinary vanillylmandelic acid
HP:0025388Thyroid nodule
HP:0032241Cervical neoplasm
HP:0100735Hypertensive crisis
Периодический (5–29%)26
HP:0002751Kyphoscoliosis
HP:0002864Paraganglioma of head and neck
HP:0002896Neoplasm of the liver
HP:0002897Parathyroid adenoma
HP:0003072Hypercalcemia
HP:0003165Elevated circulating parathyroid hormone level
HP:0003270Abdominal distention
HP:0003307Hyperlordosis
HP:0008200Primary hyperparathyroidism
HP:0010622Neoplasm of the skeletal system
HP:0010726Prominent corneal nerve fibers
HP:0012471Thick vermilion border
HP:0025151Ganglioneuromatosis
HP:0025289Cervical lymphadenopathy
HP:0030430Neuroma
HP:0030809Abnormal tongue morphology
HP:0030833Neck pain
HP:0031023Multiple mucosal neuromas
HP:0032346Cutaneous lichen amyloidosis
HP:0100526Neoplasm of the lung
HP:0000787Nephrolithiasis
HP:0001324Muscle weakness
HP:0001519Disproportionate tall stature
HP:0002019Constipation
HP:0002150Hypercalciuria
HP:0002251Aganglionic megacolon
Очень редкий (1–4%)3
HP:0003758Reduced subcutaneous adipose tissue
HP:0007126Proximal amyotrophy
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.9 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.25 | Germany | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)