Gorham-Stout disease
ORPHA:73Malformation syndromeNot applicableAll ages
Фенотипы (HPO)36
Очень частый (80–99%)3
HP:0002797Osteolysis
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0010657Patchy reduction of bone mineral density
Частый (30–79%)19
HP:0000473Torticollis
HP:0000938Osteopenia
HP:0000969Edema
HP:0002653Bone pain
HP:0002683Abnormality of the calvaria
HP:0003319Abnormality of the cervical spine
HP:0004302Functional motor deficit
HP:0005216Impaired mastication
HP:0005731Cortical irregularity
HP:0009139Osteolysis involving bones of the lower limbs
HP:0010754Abnormality of the temporomandibular joint
HP:0011384Abnormality of the internal auditory canal
HP:0011821Abnormality of facial skeleton
HP:0011849Abnormal bone ossification
HP:0012294Abnormality of the occipital bone
HP:0031417Rhinorrhea
HP:0045039Osteolysis involving bones of the upper limbs
HP:0100764Lymphangioma
HP:0200025Mandibular pain
Периодический (5–29%)10
HP:0000265Mastoiditis
HP:0000365Hearing impairment
HP:0001167Abnormality of finger
HP:0002202Pleural effusion
HP:0002756Pathologic fracture
HP:0002823Abnormality of femur morphology
HP:0007099Chiari type I malformation
HP:0007461Hemangiomatosis
HP:0045027Abnormality of the thoracic cavity
HP:0430005Abnormality of ethmoid bone
Очень редкий (1–4%)4
HP:0001287Meningitis
HP:0002176Spinal cord compression
HP:0002754Osteomyelitis
HP:0040163Abnormal pelvis bone morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)