BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (CBAS2)

Question 1

What is  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (CBAS2)?

Accepted Answer

rare (~30 cases)
autosomal recessive
mutation in the AKR1D1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitaler Gallensäuresynthesedefekt Typ 2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 235555

Question 4

Which enzymes are involved?

Accepted Answer

3-oxo-5-beta-steroid 4-dehydrogenase

Disease	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (CBAS2)
Synonym	CHOLESTASIS WITH DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY
OMIM	235555 OMIM = Online Mendelian Inheritance of Men
Orphanet	79303
Protein (UniProt)	3-oxo-5-beta-steroid 4-dehydrogenase
ExPASy	1.3.1.3
Gene locus	7q33
ICD	K76.8
Summary	rare (~30 cases) autosomal recessive mutation in the AKR1D1 gene
Laboratory findings	7a, 12a-dihydroxy-3-oxo-4-cholenoic acid inc (plasma) 7a-hydroxy-3-oxo-4-cholenoic acid inc (plasma) Albumin normal/dec (plasma) Bilirubin inc (serum) Chenodeoxycholic acid dec (urine) Chenodeoxycholic acid dec (urine) Cholesterol n/d (serum) Cholic acid dec (urine) Cholic acid dec (plasma) Glycocholic acid dec (plasma) Phosphatase, alkaline normal/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)