KEGG   DISEASE: Hyperlipoproteinemia type IIa
Entry
H01383                      Disease                                

Name
Hyperlipoproteinemia type IIa;
LDL receptor disorder
  Supergrp
Familial hypercholesterolemia [DS:H00155]
Hyperlipidemia [DS:H01635]
Description
Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01383  Hyperlipoproteinemia type IIa
  Mitochondrial diseases
   H01383  Hyperlipoproteinemia type IIa
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C80  Hyperlipoproteinaemia
     H01383  Hyperlipoproteinemia type IIa
Related
pathway
hsa04144  Endocytosis
hsa04913  Ovarian steroidogenesis
hsa04979  Cholesterol metabolism
hsa04927  Cortisol synthesis and secretion
hsa04925  Aldosterone synthesis and secretion
hsa04976  Bile secretion
Gene
LDLR [HSA:3949] [KO:K12473]
Other DBs
ICD-11: 5C80.00
ICD-10: E78.0
MeSH: D006938
OMIM: 143890
Reference
  Authors
Chan DC, Watts GF
  Title
Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box.
  Journal
Metabolism 61:3-11 (2012)
DOI:10.1016/j.metabol.2011.07.014
Reference
  Authors
Kassner U, Wuhle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I
  Title
Clinical utility gene card for: hyperlipoproteinemia, TYPE II.
  Journal
Eur J Hum Genet 22:ejhg2013271 (2014)
DOI:10.1038/ejhg.2013.271
LinkDB

» Japanese version

DBGET integrated database retrieval system