Intrahepatic cholestasis of pregnancy
ORPHA:69665DiseaseMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NR1H4 | nuclear receptor subfamily 1 group H member 4 | Candidate gene tested in | gene with protein product | 603826 |
| ABCB11 | ATP binding cassette subfamily B member 11 | Major susceptibility factor in | gene with protein product | 603201 |
| ABCB4 | ATP binding cassette subfamily B member 4 | Major susceptibility factor in | gene with protein product | 171060 |
| ATP8B1 | ATPase phospholipid transporting 8B1 | Major susceptibility factor in | gene with protein product | 602397 |
Фенотипы (HPO)27
Очень частый (80–99%)2
HP:0000989Pruritus
HP:0012202Increased serum bile acid concentration
Частый (30–79%)3
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0025031Abnormality of the digestive system
HP:0100785Insomnia
Периодический (5–29%)10
HP:0100602Preeclampsia
HP:0000716Depression
HP:0002643Neonatal respiratory distress
HP:0002904Hyperbilirubinemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0011117Abnormal circulating interleukin concentration
HP:0012420Meconium stained amniotic fluid
HP:0012689Abnormal pineal melatonin secretion
HP:0030900Pruritus on foot
HP:0031248Palmar pruritus
Очень редкий (1–4%)10
HP:0000821Hypothyroidism
HP:0000952Jaundice
HP:0001082Cholecystitis
HP:0001337Tremor
HP:0001518Small for gestational age
HP:0001541Ascites
HP:0001622Premature birth
HP:0001732Abnormality of the pancreas
HP:0002027Abdominal pain
HP:0012164Asterixis
Исключён (0%)2
HP:0000988Skin rash
HP:0002960Autoimmunity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)