Xanthomatosis, Cerebrotendinous [cerebrotendinózní xantomatóza]

topical
Terms

cerebrotendinózní cholesteróza
cholesterinosis cerebrotendinosa
van Bogaertův-Schererův-Epsteinův syndrom
xanthomatosis cerebrotendinosa
xanthomatosis normolipaemica

 

Cerebral Cholesterinosis
Cerebrotendinous Xanthomatosis
Van Bogaert-Scherer-Epstein Disease

Persistent link   https://www.medvik.cz/link/D019294
Definition

An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

DUI
D019294 MeSH Browser
CUI
M0028726
Previous indexing
Xanthomatosis (1968-1996)
History note
97
Public note
97

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.224 Barth Syndrome 6
C16.320.565.398.450 Hyperlipidemia, Familial Combined 68
C16.320.565.398.465 Hyperlipoproteinemia Type I 21
C16.320.565.398.481 Hyperlipoproteinemia Type II 456
C16.320.565.398.483 Hyperlipoproteinemia Type III 19
C16.320.565.398.487 Hyperlipoproteinemia Type IV 14
C16.320.565.398.493 Hyperlipoproteinemia Type V 6
C16.320.565.398.500 Hypolipoproteinemias 35
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.745 Lipodystrophy, Congenital Generalized 1
C16.320.565.398.850 Smith-Lemli-Opitz Syndrome 30
C16.320.565.398.925 Xanthomatosis, Cerebrotendinous
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.224 Barth Syndrome 6
C18.452.584.563.450 Hyperlipidemia, Familial Combined 68
C18.452.584.563.465 Hyperlipoproteinemia Type I 21
C18.452.584.563.481 Hyperlipoproteinemia Type II 456
C18.452.584.563.483 Hyperlipoproteinemia Type III 19
C18.452.584.563.487 Hyperlipoproteinemia Type IV 14
C18.452.584.563.493 Hyperlipoproteinemia Type V 6
C18.452.584.563.497 Hypobetalipoproteinemia, Familial, Apolipoprotein B 1
C18.452.584.563.500 Hypolipoproteinemias 35
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.745 Lipodystrophy, Congenital Generalized 1
C18.452.584.563.798 Lipodystrophy, Familial Partial 1
C18.452.584.563.824 Shwachman-Diamond Syndrome 2
C18.452.584.563.850 Smith-Lemli-Opitz Syndrome 30
C18.452.584.563.925 Xanthomatosis, Cerebrotendinous
C18.452.584.750 Xanthomatosis 70
C18.452.584.750.487 Necrobiotic Xanthogranuloma 10
C18.452.584.750.975 Xanthomatosis, Cerebrotendinous
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.224 Barth Syndrome 6
C18.452.648.398.450 Hyperlipidemia, Familial Combined 68
C18.452.648.398.465 Hyperlipoproteinemia Type I 21
C18.452.648.398.481 Hyperlipoproteinemia Type II 456
C18.452.648.398.483 Hyperlipoproteinemia Type III 19
C18.452.648.398.487 Hyperlipoproteinemia Type IV 14
C18.452.648.398.493 Hyperlipoproteinemia Type V 6
C18.452.648.398.500 Hypolipoproteinemias 35
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.745 Lipodystrophy, Congenital Generalized 1
C18.452.648.398.850 Smith-Lemli-Opitz Syndrome 30
C18.452.648.398.925 Xanthomatosis, Cerebrotendinous

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