CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)

Question 1

What is  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)?

Accepted Answer

very rare

autosomal recessive

mutation in the ABCB11 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 601847

Question 3

Which enzymes are involved?

Accepted Answer

Bile salt export pump

Disease	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)
OMIM	601847 OMIM = Online Mendelian Inheritance of Men
Orphanet	172
Protein (UniProt)	Bile salt export pump
Gene locus	2q31.1
ICD	K76.8
Summary	very rare autosomal recessive mutation in the ABCB11 gene
Laboratory findings	Bilirubin, conjugated inc (serum) gamma-Glutamyl transpeptidase normal/inc (serum) Phosphatase, alkaline inc (serum)
Symptoms	cholestasis diarrhea failure to thrive giant cell hepatitis growth retardation, poor growth hepatomegaly (large liver) jaundice liver failure liver involvement or dysfunction onset, adolescent onset, childhood onset, infancy pruritus short stature splenomegaly (large spleen)