KEGG   DISEASE: Familial hypobetalipoproteinemiaHelp
Entry
H01270                      Disease                                

Name
Familial hypobetalipoproteinemia
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01270  Familial hypobetalipoproteinemia
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
     H01270  Familial hypobetalipoproteinemia
BRITE hierarchy
Pathway
hsa04975  Fat digestion and absorption
hsa04977  Vitamin digestion and absorption
Gene
APOB [HSA:338] [KO:K14462]
ANGPTL3 [HSA:27329] [KO:K22288]
Other DBs
ICD-11: 5C81.1
ICD-10: E78.6
MeSH: D006995
OMIM: 107730 605019
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)
DOI:10.1074/jbc.M300235200
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)
DOI:10.1056/NEJMoa1002926
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system