Diseases/phenotype | Gene (Alias) |
---|---|
Indirect hyperbilirubinemia | |
 Crigler-Najjar syndrome | UGT1A1 |
 Gilbert syndrome | UGT1A1 |
Direct hyperbilirubinemia | |
Progressive familial intrahepatic cholestasis | |
 PFIC1 | ATP8B1 (FIC1) |
 PFIC2 | ABCB11 (BSEP) |
 PFIC3 | ABCB4 (MDR3) |
 Others |  |
TJP2 (ZO2) | |
NR1H4 (FXR) | |
Myosin 5B (MYO5B) | |
Bilirubin Transport Defects | |
 Rotor syndrome | SLCO1B1 (OATP1B1)/ SLCO1B3 (OATP1B3) |
 Dubin-Johnson syndrome | ABCC2 (MRP2) |
Syndromic cholestasis | |
 Alagille syndrome (paucity of interlobular bile ducts) | JAG1 |
NOTCH2 | |
 Arthrogryposis-renal dysfunction-cholestasis syndrome. | VPS33B |
VIPAR | |
Inborn errors of bile acid metabolisms | |
 Bile acid synthetic defects | HSD3B7 |
AKR1D1 (SRD5B1) | |
CYP7B1 | |
 Bile acid conjugation defects | BAAT |
 Cerebrotendinous Xanthomatosis | CYP27A1 |
Metabolic liver disease | |
 Wilson disease | ATP7B |
 Alpha-1-antitrypsin deficiency | SERPINA1 |
 Cystic fibrosis | CFTR |
 Neonatal cholestasis caused by citrin deficiency (type 2 citrullinemia) | SLC25A13 (CITRIN) |
 Niemann-Pick disease type C (NPC) | NPC1 |
NPC2 | |
 Wolman disease | LIPA |
Hepatic mitochondriopathy | |
 | TWNK (C10orf2), DGUOK, MPV17, POLG, BCS1L, RRM2B, SCO1, SUCLG1 |
Neonatal sclerosing cholangitis | |
 | CLDN1 |
Polycystic diseases (polycystic kidney disease; polycystic liver diseases; ductal plate malformation) | |
 | PKD1, PKD2, PRKCSH, SEC63, PKHD1 |
Diseases with multi-organ involvement | |
  Down syndrome | |
 Endocrine disorders | |
  Hypopituitarism | |
  Hypothyroidism | |
 Hemophagocytic lymphohistiocytosis (HLH) | |
Infections | |
 Viral infections (cytomegalovirus, enterovirus, EB virus, HIV, etc.) | |
 Bacteria infection, sepsis | |
 Toxoplasma | |
Ischemia | |
 Shock, heart failure, cardiovascular surgery | |
Parenteral nutrition-associated cholestasis | |
Drugs | |
Toxins |