KEGG   DISEASE: Abetalipoproteinemia
Entry
H00160                      Disease                                
Name
Abetalipoproteinemia;
Bassen-Kornzweig Disease
Description
Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C81  Hypolipoproteinaemia
     H00160  Abetalipoproteinemia
Pathway
hsa04975  Fat digestion and absorption
Gene
MTTP [HSA:4547] [KO:K14463]
Other DBs
ICD-11: 5C81.1
MeSH: D000012
OMIM: 200100
Reference
PMID:18611256 (MTTP)
  Authors
Zamel R, Khan R, Pollex RL, Hegele RA
  Title
Abetalipoproteinemia: two case reports and literature review.
  Journal
Orphanet J Rare Dis 3:19 (2008)
DOI:10.1186/1750-1172-3-19
Reference
PMID:10940349 (MTTP)
  Authors
Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR
  Title
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.
  Journal
Annu Rev Nutr 20:663-97 (2000)
DOI:10.1146/annurev.nutr.20.1.663
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