MeSH Browser

MeSH Heading: Abetalipoproteinemia
Tree Number(s): C16.320.565.398.500.440.500; C18.452.584.500.875.440.500; C18.452.584.563.500.440.500; C18.452.648.398.500.440.500
Unique ID: D000012
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D000012
Scope Note: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Entry Term(s): Acanthocytosis; Bassen-Kornzweig Disease; Bassen-Kornzweig Syndrome; Betalipoprotein Deficiency Disease; Microsomal Triglyceride Transfer Protein Deficiency; Microsomal Triglyceride Transfer Protein Deficiency Disease
Public MeSH Note: 1966
History Note: 1966(1964)
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0000012
Scope Note: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Terms: Abetalipoproteinemia Preferred Term
Term UI T000024
Date01/01/1999
LexicalTag NON
ThesaurusID; Bassen-Kornzweig Syndrome
Term UI T000025
Date03/29/1974
LexicalTag EPO
ThesaurusID; Microsomal Triglyceride Transfer Protein Deficiency Disease
Term UI T365903
Date11/04/1999
LexicalTag NON
ThesaurusID; Bassen-Kornzweig Disease
Term UI T365904
Date11/04/1999
LexicalTag EPO
ThesaurusID NLM (2000); Microsomal Triglyceride Transfer Protein Deficiency
Term UI T646365
Date07/20/2005
LexicalTag NON
ThesaurusID; Betalipoprotein Deficiency Disease
Term UI T751239
Date05/14/2009
LexicalTag NON
ThesaurusID; Acanthocytosis
Term UI T811395
Date11/15/2011
LexicalTag NON
ThesaurusID

Abetalipoproteinemia MeSH Descriptor Data 2025