Albers-Schönberg osteopetrosis
ORPHA:53Malformation syndromeAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)17
HP:0000256Macrocephaly
HP:0000944Abnormal metaphysis morphology
HP:0001369Arthritis
HP:0001373Joint dislocation
HP:0002007Frontal bossing
HP:0002653Bone pain
HP:0002754Osteomyelitis
HP:0002757Recurrent fractures
HP:0002758Osteoarthritis
HP:0005789Generalized osteosclerosis
HP:0005916Abnormal metacarpal morphology
HP:0005930Abnormality of epiphysis morphology
HP:0006824Cranial nerve paralysis
HP:0007626Mandibular osteomyelitis
HP:0009882Short distal phalanx of finger
HP:0010628Facial palsy
HP:0010885Avascular necrosis
Частый (30–79%)7
HP:0000164Abnormality of the dentition
HP:0000648Optic atrophy
HP:0001903Anemia
HP:0002650Scoliosis
HP:0002857Genu valgum
HP:0004322Short stature
HP:0012378Fatigue
Периодический (5–29%)10
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000618Blindness
HP:0000670Carious teeth
HP:0001873Thrombocytopenia
HP:0001881Abnormal leukocyte morphology
HP:0002901Hypocalcemia
HP:0005746Osteosclerosis of the base of the skull
HP:0012145Abnormality of multiple cell lineages in the bone marrow
HP:0030757Tooth abscess
Очень редкий (1–4%)2
HP:0000505Visual impairment
HP:0001293Cranial nerve compression
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.5 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Brazil | Value and class |
| Point prevalence | 1-9 / 100 000 | 5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)