Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ORPHA:2255DiseaseAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)5
HP:0000857Neonatal insulin-dependent diabetes mellitus
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001655Patent foramen ovale
HP:0001738Exocrine pancreatic insufficiency
Частый (30–79%)9
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002254Intermittent diarrhea
HP:0002594Pancreatic hypoplasia
HP:0011968Feeding difficulties
HP:0100790Hernia
HP:0100801Pancreatic aplasia
Периодический (5–29%)14
HP:0000851Congenital hypothyroidism
HP:0001250Seizure
HP:0001319Neonatal hypotonia
HP:0001562Oligohydramnios
HP:0001636Tetralogy of Fallot
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001669Transposition of the great arteries
HP:0002098Respiratory distress
HP:0003645Prolonged partial thromboplastin time
HP:0004415Pulmonary artery stenosis
HP:0004762Hypoplasia of right ventricle
HP:0011573Hypoplastic tricuspid valve
HP:0011581Double outlet left ventricle
Очень редкий (1–4%)12
HP:0000073Ureteral duplication
HP:0000776Congenital diaphragmatic hernia
HP:0000891Cervical ribs
HP:0001195Single umbilical artery
HP:0001537Umbilical hernia
HP:0002566Intestinal malrotation
HP:0005912Biliary atresia
HP:0010626Anterior pituitary agenesis
HP:0011466Aplasia/Hypoplasia of the gallbladder
HP:0011611Interrupted aortic arch
HP:0011628Congenital defect of the pericardium
HP:0040196Mild microcephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)