Isolated polycystic liver disease
ORPHA:2924Malformation syndromeAutosomal dominant, Not applicableAdult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PRKCSH | PRKCSH beta subunit of glucosidase II | Disease-causing germline mutation(s) in | gene with protein product | 177060 |
| SEC63 | SEC63 protein translocation regulator | Disease-causing germline mutation(s) in | gene with protein product | 608648 |
| LRP5 | LDL receptor related protein 5 | Disease-causing germline mutation(s) in | gene with protein product | 603506 |
| ALG8 | ALG8 alpha-1,3-glucosyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 608103 |
Фенотипы (HPO)22
Очень частый (80–99%)3
HP:0002240Hepatomegaly
HP:0003270Abdominal distention
HP:0006557Polycystic liver disease
Частый (30–79%)2
HP:0005562Multiple renal cysts
HP:0033842Early satiety
Периодический (5–29%)17
HP:0000952Jaundice
HP:0001654Abnormal heart valve morphology
HP:0001732Abnormality of the pancreas
HP:0002020Gastroesophageal reflux
HP:0002027Abdominal pain
HP:0002086Abnormality of the respiratory system
HP:0002093Respiratory insufficiency
HP:0002094Dyspnea
HP:0002239Gastrointestinal hemorrhage
HP:0002617Dilatation
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003418Back pain
HP:0003573Increased total bilirubin
HP:0004944Dilatation of the cerebral artery
HP:0008872Feeding difficulties in infancy
HP:0010741Pedal edema
HP:0030948Elevated gamma-glutamyltransferase level
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)