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Descriptor English:   Wolman Disease 
Descriptor Spanish:   Enfermedad de Wolman 
Descriptor Portuguese:   Doença de Wolman 
Synonyms English:   Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Acid Lipase Deficiency
Disease, Wolman
Disease, Wolman's
Familial Xanthomatoses
Familial Xanthomatosis
Liposomal Acid Lipase Deficiency, Wolman Type
Wolman's Disease
Wolman's Xanthomatosis
Wolmans Disease
Xanthomatoses, Familial
Xanthomatosis, Familial
Xanthomatosis, Wolman
Xanthomatosis, Wolman's
Xanthomatosis, Wolmans  
Tree Number:   C16.320.565.398.641.201.500
Definition English:   The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE. 
History Note English:   1989 
Allowable Qualifiers English:  
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
Record Number:   23863 
Unique Identifier:   D015223 

Occurrence in VHL: