Infantile myofibromatosis
ORPHA:2591DiseaseAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0000944Abnormal metaphysis morphology
HP:0001482Subcutaneous nodule
HP:0003011Abnormality of the musculature
HP:0008069Neoplasm of the skin
HP:0010614Fibroma
HP:0012062Bone cyst
HP:0100242Sarcoma
Частый (30–79%)8
HP:0000169Gingival fibromatosis
HP:0000271Abnormality of the face
HP:0000765Abnormal thorax morphology
HP:0000929Abnormal skull morphology
HP:0000934Chondrocalcinosis
HP:0001595Abnormality of the hair
HP:0002242Abnormal intestine morphology
HP:0100526Neoplasm of the lung
Периодический (5–29%)13
HP:0000077Abnormality of the kidney
HP:0000478Abnormality of the eye
HP:0001376Limitation of joint mobility
HP:0002575Tracheoesophageal fistula
HP:0002797Osteolysis
HP:0002894Neoplasm of the pancreas
HP:0003072Hypercalcemia
HP:0004374Hemiplegia/hemiparesis
HP:0005107Abnormal sacrum morphology
HP:0005214Intestinal obstruction
HP:0007400Irregular hyperpigmentation
HP:0100835Benign neoplasm of the central nervous system
HP:0200042Skin ulcer
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)