KEGG DISEASE: Familial hypobetalipoproteinemia

KEGG

DISEASE: Familial hypobetalipoproteinemia

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 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
     H01270  Familial hypobetalipoproteinemia

Pathway

Cholesterol metabolism

Vitamin digestion and absorption

Fat digestion and absorption

Gene

(FHBL1) APOB [HSA:338] [KO:K14462]
(FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

PMID:12551903 (FHBL1)

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

PMID:20942659 (FHBL2)

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

» Japanese version

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