Osteogenesis imperfecta
ORPHA:666DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveAll ages
Фенотипы (HPO)114
Очень частый (80–99%)19
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000269Prominent occiput
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000410Mixed hearing impairment
HP:0000444Convex nasal ridge
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0000883Thin ribs
HP:0000944Abnormal metaphysis morphology
HP:0001288Gait disturbance
HP:0001511Intrauterine growth retardation
HP:0002992Abnormality of tibia morphology
HP:0004331Decreased skull ossification
HP:0005019Diaphyseal thickening
HP:0011073Abnormality of dental color
Частый (30–79%)40
HP:0000164Abnormality of the dentition
HP:0000239Large fontanelles
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000592Blue sclerae
HP:0000689Dental malocclusion
HP:0000703Dentinogenesis imperfecta
HP:0000739Anxiety
HP:0000774Narrow chest
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000973Cutis laxa
HP:0000975Hyperhidrosis
HP:0001382Joint hypermobility
HP:0001730Progressive hearing impairment
HP:0002150Hypercalciuria
HP:0002505Loss of ambulation
HP:0002653Bone pain
HP:0002659Increased susceptibility to fractures
HP:0002757Recurrent fractures
HP:0002823Abnormality of femur morphology
HP:0002857Genu valgum
HP:0002953Vertebral compression fracture
HP:0002980Femoral bowing
HP:0003084Fractures of the long bones
HP:0003100Slender long bone
HP:0003103Abnormal cortical bone morphology
HP:0003272Abnormality of the hip bone
HP:0003312Abnormal form of the vertebral bodies
HP:0003546Exercise intolerance
HP:0004322Short stature
HP:0004349Reduced bone mineral density
HP:0004586Biconcave vertebral bodies
HP:0004621Enlarged vertebral pedicles
HP:0006640Multiple ribs fractures
HP:0007957Corneal opacity
HP:0011314Abnormality of long bone morphology
HP:0012378Fatigue
HP:0030680Abnormal cardiovascular system morphology
HP:0001382Joint hypermobility
Периодический (5–29%)33
HP:0000023Inguinal hernia
HP:0000325Triangular face
HP:0000684Delayed eruption of teeth
HP:0000767Pectus excavatum
HP:0000787Nephrolithiasis
HP:0000978Bruising susceptibility
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0001537Umbilical hernia
HP:0001873Thrombocytopenia
HP:0002011Morphological central nervous system abnormality
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002119Ventriculomegaly
HP:0002645Wormian bones
HP:0002650Scoliosis
HP:0002758Osteoarthritis
HP:0002808Kyphosis
HP:0002829Arthralgia
HP:0002983Micromelia
HP:0003083Dislocated radial head
HP:0003179Protrusio acetabuli
HP:0003401Paresthesia
HP:0003474Somatic sensory dysfunction
HP:0004306Abnormality of the endocardium
HP:0004482Relative macrocephaly
HP:0005214Intestinal obstruction
HP:0006487Bowing of the long bones
HP:0030267Calcification of the interosseus membrane of the forearm
HP:0030268Hyperplastic callus formation
HP:0100661Trigeminal neuralgia
HP:0100761Visceral angiomatosis
Очень редкий (1–4%)22
HP:0000238Hydrocephalus
HP:0000639Nystagmus
HP:0001251Ataxia
HP:0001342Cerebral hemorrhage
HP:0001634Mitral valve prolapse
HP:0001659Aortic regurgitation
HP:0002089Pulmonary hypoplasia
HP:0002273Tetraparesis
HP:0002315Headache
HP:0002512Brain stem compression
HP:0002616Aortic root aneurysm
HP:0002643Neonatal respiratory distress
HP:0002647Aortic dissection
HP:0002947Cervical kyphosis
HP:0003396Syringomyelia
HP:0004942Aortic aneurysm
HP:0005257Thoracic hypoplasia
HP:0005294Arterial dissection
HP:0006824Cranial nerve paralysis
HP:0008905Rhizomelia
HP:0010953Noncommunicating hydrocephalus
HP:0012366Basilar invagination
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 8.06 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Latin America | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.5 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.95 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.4 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.375 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)