Loeys-Dietz syndrome
ORPHA:60030Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TGFB2 | transforming growth factor beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 190220 |
| TGFB3 | transforming growth factor beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 190230 |
| SMAD2 | SMAD family member 2 | Disease-causing germline mutation(s) in | gene with protein product | 601366 |
| SMAD3 | SMAD family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 603109 |
| IPO8 | importin 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605600 |
| TGFBR1 | transforming growth factor beta receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 190181 |
| TGFBR2 | transforming growth factor beta receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 190182 |
Фенотипы (HPO)38
Очень частый (80–99%)8
HP:0001643Patent ductus arteriosus
HP:0001763Pes planus
HP:0002617Dilatation
HP:0002647Aortic dissection
HP:0004942Aortic aneurysm
HP:0005116Arterial tortuosity
HP:0005294Arterial dissection
HP:0100718Uterine rupture
Частый (30–79%)18
HP:0000098Tall stature
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000202Orofacial cleft
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000592Blue sclerae
HP:0000964Eczematoid dermatitis
HP:0000987Atypical scarring of skin
HP:0001065Striae distensae
HP:0001166Arachnodactyly
HP:0001363Craniosynostosis
HP:0001382Joint hypermobility
HP:0001762Talipes equinovarus
HP:0002099Asthma
HP:0002650Scoliosis
HP:0100490Camptodactyly of finger
Периодический (5–29%)12
HP:0001382Joint hypermobility
HP:0000545Myopia
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000963Thin skin
HP:0000978Bruising susceptibility
HP:0001373Joint dislocation
HP:0001653Mitral regurgitation
HP:0001695Cardiac arrest
HP:0001892Abnormal bleeding
HP:0002108Spontaneous pneumothorax
HP:0410151Eosinophilic infiltration of the esophagus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 52 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)