KEGG   DISEASE: Familial autosomal recessive hypercholesterolemia
H01918                      Disease                                

Familial autosomal recessive hypercholesterolemia
Hyperlipidemia [DS:H01635]
Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias have been identified which lead to severe primary hypercholesterolemia. Among them, ARH is characterized by clinical symptoms and plasma cholesterol levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors accumulate on the cell membrane. In general, ARH patients show a better response to lipid-lowering therapy than the FH patients, and they rarely require LDL apheresis.
Inherited metabolic disease; Cardiovascular disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01918  Familial autosomal recessive hypercholesterolemia
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
     H01918  Familial autosomal recessive hypercholesterolemia
hsa04144 Endocytosis   
nt06320  APOB-LDLR signaling
N00335  Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
LDLRAP1 [HSA:26119] [KO:K12474]
Other DBs
ICD-11: 5C80.00
ICD-10: E78.0
OMIM: 603813
Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vazquez A, Ordonez-Sanchez ML, Rodriguez-Torres M, Venturas-Gallegos JL, Riba L, Ramirez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-Garcia A, Rosales-Leon L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferre-D'Amare A, Gomez-Perez FJ, Tusie-Luna MT
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
Hum Genet 116:114-20 (2005)
Fahed AC, Nemer GM
Familial hypercholesterolemia: the lipids or the genes?
Nutr Metab (Lond) 8:23 (2011)
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Science 292:1394-8 (2001)

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