Isolated osteopoikilosis
ORPHA:166119DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0011001Increased bone mineral density
HP:0011849Abnormal bone ossification
HP:0040068Abnormality of limb bone
Частый (30–79%)6
HP:0004289Sclerotic foci in hand bones
HP:0009106Abnormal pelvis bone ossification
HP:0011314Abnormality of long bone morphology
HP:0040163Abnormal pelvis bone morphology
HP:0100774Hyperostosis
HP:0100925Sclerosis of foot bone
Периодический (5–29%)15
HP:0000620Dacryocystitis
HP:0001376Limitation of joint mobility
HP:0001387Joint stiffness
HP:0001474Sclerotic scapulae
HP:0002653Bone pain
HP:0002823Abnormality of femur morphology
HP:0002829Arthralgia
HP:0004240Sclerotic foci within carpal bones
HP:0012758Neurodevelopmental delay
HP:0030838Hip pain
HP:0030840Ankle pain
HP:0030955Alcoholism
HP:0031051Tarsal sclerosis
HP:0032148Episodic pain
HP:0100569Abnormally ossified vertebrae
Очень редкий (1–4%)9
HP:0000077Abnormality of the kidney
HP:0000175Cleft palate
HP:0000818Abnormality of the endocrine system
HP:0001159Syndactyly
HP:0001627Abnormal heart morphology
HP:0002960Autoimmunity
HP:0007417Discoid lupus rash
HP:0010562Keloids
HP:0100324Scleroderma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 2 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)