BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (CBAS1)

Question 1

What is  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (CBAS1)?

Accepted Answer

rare (~60 cases)
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitaler Gallensäuresynthesedefekt Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607765

Question 4

Which enzymes are involved?

Accepted Answer

3 beta-hydroxysteroid dehydrogenase type 7

Disease	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (CBAS1)
Synonym	3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
OMIM	607765 OMIM = Online Mendelian Inheritance of Men
Orphanet	79301
Protein (UniProt)	3 beta-hydroxysteroid dehydrogenase type 7
Gene locus	16p11.2
ICD	K76.8
Summary	rare (~60 cases) autosomal recessive
Laboratory findings	Bilirubin inc (serum) Cholesterol n/d (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cholestasis cirrhosis or fibrosis of liver diarrhea failure to thrive giant cell hepatitis hepatomegaly (large liver) jaundice liver failure onset, neonatal splenomegaly (large spleen)