CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Question 1

What is  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1?

Accepted Answer

rare (1:90000)
autosomal recessive
mutation in the ATP8B1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cholestase, familiäre intrahepatische progressive

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 211600

Question 4

Which enzymes are involved?

Accepted Answer

defect in primary bile acid secretion

Disease	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
Synonym	BYLER DISEASE
OMIM	211600 OMIM = Online Mendelian Inheritance of Men
Orphanet	172
Protein (UniProt)	defect in primary bile acid secretion
Gene locus	18q21
ICD	K74.5
Summary	rare (1:90000) autosomal recessive mutation in the ATP8B1 gene
Laboratory findings	Bile acids dec (bile) Bile acids normal/inc (serum) Bilirubin inc (serum) Chloride inc (sweat) Cholesterol dec (serum) gamma-Glutamyl transpeptidase normal/dec (serum) Phosphatase, alkaline inc (serum) Vitamin A dec (serum) Vitamin D dec (serum) Vitamin E dec (serum)
Symptoms	cholecystitis cholestasis cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors failure to thrive gallstones, cholelithiasis hepatoma hepatomegaly (large liver) infections (respiratory tract/system) jaundice liver failure nose bleed onset, childhood onset, infancy pruritus rickets steatorrhea