Cole-Carpenter syndrome
ORPHA:2050Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| P4HB | prolyl 4-hydroxylase subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 176790 |
| SEC24D | SEC24 homolog D, COPII component | Disease-causing germline mutation(s) in | gene with protein product | 607186 |
| CRTAP | cartilage associated protein | Disease-causing germline mutation(s) in | gene with protein product | 605497 |
Фенотипы (HPO)26
Очень частый (80–99%)14
HP:0000347Micrognathia
HP:0000520Proptosis
HP:0000592Blue sclerae
HP:0000684Delayed eruption of teeth
HP:0000772Abnormal rib morphology
HP:0000944Abnormal metaphysis morphology
HP:0001608Abnormality of the voice
HP:0002007Frontal bossing
HP:0002652Skeletal dysplasia
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0006367Crumpled long bones
HP:0006487Bowing of the long bones
HP:0011800Midface retrusion
Частый (30–79%)9
HP:0000262Turricephaly
HP:0000682Abnormality of dental enamel
HP:0001252Hypotonia
HP:0001334Communicating hydrocephalus
HP:0001511Intrauterine growth retardation
HP:0002645Wormian bones
HP:0002650Scoliosis
HP:0002757Recurrent fractures
HP:0002808Kyphosis
Периодический (5–29%)3
HP:0000494Downslanted palpebral fissures
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)