Details of Disease | DrugMAP

General Information of Disease (ID: DISU4A6Q)

Disease Name	Progressive familial intrahepatic cholestasis type 2
Synonyms	severe ABCB11 deficiency; cholestasis, progressive familial intrahepatic, 2; cholestasis, progressive familial intrahepatic 2; BSEP deficiency; progressive familial intrahepatic cholestasis type 2; cholestasis, progressive familial intrahepatic, type 2; progressive familial intrahepatic cholestasis caused by mutation in ABCB11; PFIC2; ABCB11 progressive familial intrahepatic cholestasis
Definition	Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
Disease Hierarchy	DISCNRNR: Benign recurrent intrahepatic cholestasis type 2 DIS3J8HT: Progressive familial intrahepatic cholestasis DISU4A6Q: Progressive familial intrahepatic cholestasis type 2
Disease Identifiers	MONDO ID MONDO_0011156 UMLS CUI C3489789 OMIM ID 601847 MedGen ID 483742 Orphanet ID 79304 SNOMED CT ID 1155841005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCB11	TTUXCAF	Limited	Altered Expression	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB11	DTJ0EW4	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CELA3B	OTGU8BE9	Strong	Genetic Variation	[3]
ABCB11	OTRU7THO	Definitive	Autosomal recessive	[2]
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References

1	Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency.Hepatology. 2016 Feb;63(2):524-37. doi: 10.1002/hep.28311. Epub 2015 Dec 15.
2	Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 1999 Dec;117(6):1370-9. doi: 10.1016/s0016-5085(99)70287-8.
3	Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2.J Pediatr Gastroenterol Nutr. 2006 Apr;42(4):416-8. doi: 10.1097/01.mpg.0000218154.26792.6a.