PAGOD syndrome
ORPHA:991Malformation syndromeNot applicableNeonatal
Фенотипы (HPO)31
Очень частый (80–99%)5
HP:0000008Abnormal morphology of female internal genitalia
HP:0002089Pulmonary hypoplasia
HP:0004414Abnormality of the pulmonary artery
HP:0004971Pulmonary artery hypoplasia
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)11
HP:0000003Multicystic kidney dysplasia
HP:0000035Abnormal testis morphology
HP:0000062Ambiguous genitalia
HP:0000130Abnormality of the uterus
HP:0000776Congenital diaphragmatic hernia
HP:0001522Death in infancy
HP:0001539Omphalocele
HP:0004383Hypoplastic left heart
HP:0008633Agonadism
HP:0008678Renal hypoplasia/aplasia
HP:0010458Female pseudohermaphroditism
Периодический (5–29%)15
HP:0000252Microcephaly
HP:0000648Optic atrophy
HP:0000772Abnormal rib morphology
HP:0000889Abnormality of the clavicle
HP:0001645Sudden cardiac death
HP:0001679Abnormal aortic morphology
HP:0001696Situs inversus totalis
HP:0001743Abnormality of the spleen
HP:0002084Encephalocele
HP:0002269Abnormality of neuronal migration
HP:0002414Spina bifida
HP:0002435Meningocele
HP:0004322Short stature
HP:0011675Arrhythmia
HP:0100555Asymmetric growth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)