KEGG   DISEASE: Familial hypobetalipoproteinemiaHelp
H01270                      Disease                                

Familial hypobetalipoproteinemia
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.
Inherited metabolic disease
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
hsa04975  Fat digestion and absorption
hsa04977  Vitamin digestion and absorption
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
Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
J Biol Chem 278:13442-52 (2003)
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
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
N Engl J Med 363:2220-7 (2010)
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