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Descriptor English: Wolman Disease
Descriptor Spanish: Enfermedad de Wolman
Descriptor enfermedad de Wolman
Entry term(s) deficiencia de LAL
deficiencia de LIPA
deficiencia de colesteril éster hidrolasa ácida tipo Wolman
deficiencia de colesteril-éster-hidrolasa ácida de tipo 2
deficiencia de colesterol-éster-hidrolasa
deficiencia de lipasa ácida liposómica
enfermedad de Wolman con hipolipoproteinemia y acantocitosis
enfermedad de la lipasa ácida
xantomatosis de Wolman
xantomatosis familiar
Scope note: Forma infantil grave de enfermedades congénitas lisosómicas de almacenamiento de lípidos, producidas por déficit de lipasa ácida (ESTEROL ESTERASA). Se caracteriza por acumulación de lípidos neutros, particularmente ÉSTERES DE COLESTEROL, en leucocitos, fibroblastos y hepatocitos. También se conoce a esta patología como xantomatosis de Wolman, y es una variante alélica de la ENFERMEDAD POR ALMACENAMIENTO DE ÉSTERES DE COLESTEROL.
Descriptor Portuguese: Doença de Wolman
Descriptor French: Maladie de Wolman
Entry term(s): Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Acid Lipase Deficiency
Acid Lipase Disease
Acid Lipase Diseases
Cholesterol ester hydrolase deficiency
Deficiencies, LAL
Deficiencies, LIPA
Deficiency, LAL
Deficiency, LIPA
Disease, Acid Lipase
Disease, Wolman
Disease, Wolman's
Diseases, Acid Lipase
Familial Xanthomatoses
Familial Xanthomatosis
LAL Deficiencies
LAL Deficiency
LIPA Deficiencies
LIPA Deficiency
Lipase Disease, Acid
Lipase Diseases, Acid
Liposomal Acid Lipase Deficiency, Wolman Type
Lysosomal Acid Lipase Deficiency
Wolman Disease with Hypolipoproteinemia and Acanthocytosis
Wolman's Disease
Wolman's Xanthomatosis
Wolmans Disease
Xanthomatoses, Familial
Xanthomatosis, Familial
Xanthomatosis, Wolman
Xanthomatosis, Wolman's
Xanthomatosis, Wolmans
Tree number(s): C16.320.565.398.641.201.500
C16.320.565.595.201.500
C16.614.947
C18.452.584.563.641.201.500
C18.452.648.398.641.201.500
C18.452.648.595.201.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D015223
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Cholesterol Esters (1978-1988)
Lipase (1966-1988)
Lipid Metabolism, Inborn Errors (1966-1988)
Lipoidosis (1966-1988)
Xanthomatosis (1966-1988)
Public MeSH Note: 1989
History Note: 1989
Entry Version: WOLMAN DIS
DeCS ID: 23863
Unique ID: D015223
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1989/01/01
Date of Entry: 1988/05/12
Revision Date: 2023/05/31
Wolman Disease - Preferred
Concept UI M0023386
Scope note 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.
Preferred term Wolman Disease
Entry term(s) 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 Disease with Hypolipoproteinemia and Acanthocytosis
Wolman's Disease
Wolman's Xanthomatosis
Wolmans Disease
Xanthomatoses, Familial
Xanthomatosis, Familial
Xanthomatosis, Wolman
Xanthomatosis, Wolman's
Xanthomatosis, Wolmans
Lysosomal Acid Lipase Deficiency - Narrower
Concept UI M0525345
Preferred term Lysosomal Acid Lipase Deficiency
Entry term(s) Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Lipase Disease
Acid Lipase Diseases
Cholesterol ester hydrolase deficiency
Deficiencies, LAL
Deficiencies, LIPA
Deficiency, LAL
Deficiency, LIPA
Disease, Acid Lipase
Diseases, Acid Lipase
LAL Deficiencies
LAL Deficiency
LIPA Deficiencies
LIPA Deficiency
Lipase Disease, Acid
Lipase Diseases, Acid



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