Cranioectodermal dysplasia
ORPHA:1515Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IFT122 | intraflagellar transport 122 | Disease-causing germline mutation(s) in | gene with protein product | 606045 |
| WDR35 | WD repeat domain 35 | Disease-causing germline mutation(s) in | gene with protein product | 613602 |
| IFT43 | intraflagellar transport 43 | Disease-causing germline mutation(s) in | gene with protein product | 614068 |
| WDR19 | WD repeat domain 19 | Disease-causing germline mutation(s) in | gene with protein product | 608151 |
| IFT52 | intraflagellar transport 52 | Disease-causing germline mutation(s) in | gene with protein product | 617094 |
Фенотипы (HPO)30
Очень частый (80–99%)16
HP:0008905Rhizomelia
HP:0009882Short distal phalanx of finger
HP:0000164Abnormality of the dentition
HP:0000268Dolichocephaly
HP:0000269Prominent occiput
HP:0000286Epicanthus
HP:0000691Microdontia
HP:0000774Narrow chest
HP:0000939Osteoporosis
HP:0000940Abnormal diaphysis morphology
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001231Abnormal fingernail morphology
HP:0002007Frontal bossing
HP:0008070Sparse hair
HP:0008388Abnormal toenail morphology
Частый (30–79%)8
HP:0001382Joint hypermobility
HP:0000232Everted lower lip vermilion
HP:0000463Anteverted nares
HP:0000601Hypotelorism
HP:0000668Hypodontia
HP:0000767Pectus excavatum
HP:0001363Craniosynostosis
HP:0006101Finger syndactyly
Периодический (5–29%)6
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0004209Clinodactyly of the 5th finger
HP:0008499High hypermetropia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | 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)