Search on: ACANTHOCYTOSES 
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Descriptor English:   Abetalipoproteinemia 
Descriptor Spanish:   Abetalipoproteinemia 
Descriptor Portuguese:   Abetalipoproteinemia 
Synonyms English:   Acanthocytoses
Acanthocytosis
Bassen Kornzweig Disease
Bassen Kornzweig Syndrome
Bassen-Kornzweig Disease
Bassen-Kornzweig Syndrome
Betalipoprotein Deficiency Disease
Betalipoprotein Deficiency Diseases
Deficiency Disease, Betalipoprotein
Deficiency Diseases, Betalipoprotein
Disease, Betalipoprotein Deficiency
Diseases, Betalipoprotein Deficiency
Microsomal Triglyceride Transfer Protein Deficiency
Microsomal Triglyceride Transfer Protein Deficiency Disease  
Tree Number:   C16.320.565.398.500.440.500
C18.452.584.500.875.440.500
C18.452.648.398.500.440.500
Definition English:   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. 
History Note English:   1966(1964) 
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:   12 
Unique Identifier:   D000012 

Occurrence in VHL:
 

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