Seckel syndrome
ORPHA:808Malformation syndromeAutosomal recessiveAntenatal
Ассоциированные гены15
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DNA2 | DNA replication helicase/nuclease 2 | Disease-causing germline mutation(s) in | gene with protein product | 601810 |
| NUP85 | nucleoporin 85 | Disease-causing germline mutation(s) in | gene with protein product | 170285 |
| CEP295 | centrosomal protein 295 | Disease-causing germline mutation(s) in | gene with protein product | 617728 |
| ATR | ATR checkpoint kinase | Disease-causing germline mutation(s) in | gene with protein product | 601215 |
| CPAP | centrosome assembly and centriole elongation protein | Disease-causing germline mutation(s) in | gene with protein product | 609279 |
| PCNT | pericentrin | Candidate gene tested in | gene with protein product | 605925 |
| CEP152 | centrosomal protein 152 | Disease-causing germline mutation(s) in | gene with protein product | 613529 |
| RBBP8 | RB binding protein 8, endonuclease | Disease-causing germline mutation(s) in | gene with protein product | 604124 |
| ATRIP | ATR interacting protein | Disease-causing germline mutation(s) in | gene with protein product | 606605 |
| TRAIP | TRAF interacting protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605958 |
| CEP63 | centrosomal protein 63 | Disease-causing germline mutation(s) in | gene with protein product | 614724 |
| NIN | ninein | Disease-causing germline mutation(s) in | gene with protein product | 608684 |
| NSMCE2 | NSE2 SUMO ligase component of SMC5/6 complex | Disease-causing germline mutation(s) in | gene with protein product | 617246 |
| PLK4 | polo like kinase 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605031 |
| CENPE | centromere protein E | Disease-causing germline mutation(s) in | gene with protein product | 117143 |
Фенотипы (HPO)26
Очень частый (80–99%)15
HP:0000252Microcephaly
HP:0000275Narrow face
HP:0000347Micrognathia
HP:0000444Convex nasal ridge
HP:0001249Intellectual disability
HP:0001363Craniosynostosis
HP:0001511Intrauterine growth retardation
HP:0001852Sandal gap
HP:0002750Delayed skeletal maturation
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0004326Cachexia
HP:0007495Prematurely aged appearance
HP:0011342Mild global developmental delay
HP:0100543Cognitive impairment
Частый (30–79%)10
HP:0000363Abnormality of earlobe
HP:0000387Absent earlobe
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000682Abnormality of dental enamel
HP:0001385Hip dysplasia
HP:0002209Sparse scalp hair
HP:0009804Tooth agenesis
HP:0010579Cone-shaped epiphysis
HP:0001382Joint hypermobility
Периодический (5–29%)1
HP:0002650Scoliosis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | 1-5 / 10 000 | 10 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)