KEGG   DISEASE: H01270Help
Entry
H01270                      Disease                                

Name
Familial hypobetalipoproteinemia (FHBL)
Description
Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Fat digestion and absorption
Vitamin digestion and absorption
Gene
APOB [HSA:338] [KO:K14462]
ANGPTL3 [HSA:27329]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z
  Title
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
  Journal
J Biol Chem 278:13442-52 (2003)
Reference
  Authors
Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S
  Title
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
  Journal
N Engl J Med 363:2220-7 (2010)

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