Camurati-Engelmann disease
ORPHA:1328Malformation syndromeAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)15
HP:0000925Abnormality of the vertebral column
HP:0000929Abnormal skull morphology
HP:0000940Abnormal diaphysis morphology
HP:0002652Skeletal dysplasia
HP:0002653Bone pain
HP:0002818Abnormal morphology of the radius
HP:0002823Abnormality of femur morphology
HP:0004326Cachexia
HP:0005464Craniofacial osteosclerosis
HP:0005791Cortical thickening of long bone diaphyses
HP:0006501Aplasia/Hypoplasia of the radius
HP:0012544Elevated circulating aldolase concentration
HP:0040071Abnormal morphology of ulna
HP:0100774Hyperostosis
HP:0031095Abnormal humerus morphology
Частый (30–79%)6
HP:0001324Muscle weakness
HP:0001376Limitation of joint mobility
HP:0002515Waddling gait
HP:0002992Abnormality of tibia morphology
HP:0003202Skeletal muscle atrophy
HP:0100255Metaphyseal dysplasia
Периодический (5–29%)33
HP:0000016Urinary retention
HP:0000135Hypogonadism
HP:0000365Hearing impairment
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0000648Optic atrophy
HP:0000670Carious teeth
HP:0000684Delayed eruption of teeth
HP:0000763Sensory neuropathy
HP:0000823Delayed puberty
HP:0001251Ataxia
HP:0001533Slender build
HP:0001639Hypertrophic cardiomyopathy
HP:0001744Splenomegaly
HP:0001763Pes planus
HP:0001882Leukopenia
HP:0001903Anemia
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0002039Anorexia
HP:0002167Abnormality of speech or vocalization
HP:0002240Hepatomegaly
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0003307Hyperlordosis
HP:0003565Elevated erythrocyte sedimentation rate
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0007807Optic nerve compression
HP:0008872Feeding difficulties in infancy
HP:0010628Facial palsy
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)