Cholesterol Ester Storage Disease [nemoc ze střádání esterů cholesterolu]

topical
13
Terms

CESD
estery cholesterolu - nemoc z ukládání
nemoc z ukládání esterů cholesterolu

 

Cholesteryl Ester Storage Disease

Persistent link   https://www.medvik.cz/link/D015217
Definition

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

DUI
D015217 MeSH Browser
CUI
M0023379
Previous indexing
Cholesterol Esters (1978-1988); Lipase (1966-1988); Lipid Metabolism, Inborn Errors (1966-1988); Lipoidosis (1966-1988)
History note
89
Public note
89

C Diseases
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.201 Cholesterol Ester Storage Disease 13
C16.320.565.398.641.201.500 Wolman Disease 15
C16.320.565.398.641.509 Neuronal Ceroid-Lipofuscinoses 29
C16.320.565.398.641.723 Sjogren-Larsson Syndrome 4
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.100 Aspartylglucosaminuria
C16.320.565.595.201.500 Wolman Disease 15
C16.320.565.595.377 Cystinosis 16
C16.320.565.595.577 Mannosidase Deficiency Diseases 1
C16.320.565.595.600 Mucopolysaccharidoses 81
C16.320.565.595.800 Pycnodysostosis 2
C18.452 Metabolic Diseases 1 196
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.201 Cholesterol Ester Storage Disease 13
C18.452.584.563.641.201.500 Wolman Disease 15
C18.452.584.563.641.509 Neuronal Ceroid-Lipofuscinoses 29
C18.452.584.563.641.723 Sjogren-Larsson Syndrome 4
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.201 Cholesterol Ester Storage Disease 13
C18.452.648.398.641.201.500 Wolman Disease 15
C18.452.648.398.641.509 Neuronal Ceroid-Lipofuscinoses 29
C18.452.648.398.641.723 Sjogren-Larsson Syndrome 4
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.100 Aspartylglucosaminuria
C18.452.648.595.201.500 Wolman Disease 15
C18.452.648.595.377 Cystinosis 16
C18.452.648.595.577 Mannosidase Deficiency Diseases 1
C18.452.648.595.600 Mucopolysaccharidoses 81
C18.452.648.595.800 Pycnodysostosis 2

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