BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (CBAS3)

very rare (<5 cases) autosomal recessive mutation in the CYP7B1 gene

Kongenitaler Gallensäuresynthesedefekt Typ 3

Question 1

What is  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (CBAS3)?

Accepted Answer

very rare (<5 cases)
autosomal recessive
mutation in the CYP7B1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitaler Gallensäuresynthesedefekt Typ 3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613812

Question 4

Which enzymes are involved?

Accepted Answer

Cytochrome P450 7B1

Disease	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (CBAS3)
OMIM	613812 OMIM = Online Mendelian Inheritance of Men
Orphanet	79302
Protein (UniProt)	Cytochrome P450 7B1
ExPASy	1.14.13.100
Gene locus	8q12.3
ICD	K76.8
Summary	very rare (<5 cases) autosomal recessive mutation in the CYP7B1 gene
Laboratory findings	3-beta-hydroxy-5-cholestenoic acid inc (plasma) 3-beta-hydroxy-5-cholestenoic acid inc (urine) Bilirubin inc (serum) D-Glucose dec (plasma) Glycerol-3-phosphate inc (plasma) Phosphatase, alkaline inc (serum) Transaminases (ASAT/ALAT) inc (serum) Vitamin H dec (plasma)
Symptoms	ataxia cataract cholestasis cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors diarrhea failure to thrive giant cell hepatitis hepatomegaly (large liver) hypoglycemia jaundice liver failure MRI, brain, white matter abnormalities [-] onset, adulthood onset, neonatal optic atrophy splenomegaly (large spleen) white matter changes, abnormalities