Cerebrotendinous xanthomatosis; Van Bogaert-Scherer-Epstein Disease
Supergrp
Congenital bile acid synthesis defect [DS:H00628] Xanthoma [DS:H01661]
Description
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 Inborn errors of lipid metabolism
H00151 Cerebrotendinous xanthomatosis
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06022 Bile acid biosynthesis
H00151 Cerebrotendinous xanthomatosis
