Weill-Marchesani syndrome
ORPHA:3449Malformation syndromeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ADAMTS17 | ADAM metallopeptidase with thrombospondin type 1 motif 17 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607511 |
| ADAMTS10 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | Disease-causing germline mutation(s) in | gene with protein product | 608990 |
| FBN1 | fibrillin 1 | Disease-causing germline mutation(s) in | gene with protein product | 134797 |
| LTBP2 | latent transforming growth factor beta binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 602091 |
Фенотипы (HPO)21
Очень частый (80–99%)6
HP:0000501Glaucoma
HP:0001156Brachydactyly
HP:0004322Short stature
HP:0009778Short thumb
HP:0011003High myopia
HP:0030961Microspherophakia
Частый (30–79%)4
HP:0001072Thickened skin
HP:0001083Ectopia lentis
HP:0001376Limitation of joint mobility
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)11
HP:0000518Cataract
HP:0000572Visual loss
HP:0001256Intellectual disability, mild
HP:0001387Joint stiffness
HP:0001629Ventricular septal defect
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0002750Delayed skeletal maturation
HP:0005184Prolonged QTc interval
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)