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Table 1 Differential diagnosis of jaundice caused by primary or secondary intrahepatic liver diseases

From: Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases

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