Meacham syndrome
ORPHA:3097Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)6
HP:0000062Ambiguous genitalia
HP:0000142Abnormality of the vagina
HP:0000148Vaginal atresia
HP:0000776Congenital diaphragmatic hernia
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0011027Abnormality of the fallopian tube
Частый (30–79%)6
HP:0000028Cryptorchidism
HP:0002101Abnormal lung lobation
HP:0004383Hypoplastic left heart
HP:0008736Hypoplasia of penis
HP:0030010Hydrometrocolpos
HP:0100632Pulmonary sequestration
Периодический (5–29%)13
HP:0000085Horseshoe kidney
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001650Aortic valve stenosis
HP:0001669Transposition of the great arteries
HP:0001680Coarctation of aorta
HP:0001696Situs inversus totalis
HP:0001710Conotruncal defect
HP:0001743Abnormality of the spleen
HP:0004736Crossed fused renal ectopia
HP:0010772Anomalous pulmonary venous return
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)