KEGG DISEASE: Peroxisomal fatty acyl-CoA reductase 1 disorder

KEGG

DISEASE: Peroxisomal fatty acyl-CoA reductase 1 disorder

Entry

H02100                      Disease

Name

Peroxisomal fatty acyl-CoA reductase 1 disorder

Supergrp

Rhizomelic chondrodysplasia punctata [DS:H00207]
Peroxisome biogenesis disorder [DS:H00205]

Description

Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia or skeletal abnormalities. Mutations in FAR1, producing fatty alcohols used in plasmalogen biosynthesis, were recently shown to cause this disease.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H02100  Peroxisomal fatty acyl-CoA reductase 1 disorder

Pathway

Peroxisome

Gene

FAR1 [HSA:84188] [KO:K13356]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R

Title

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Journal

Am J Hum Genet 95:602-10 (2014)
DOI:10.1016/j.ajhg.2014.10.003

Reference

Authors

Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E

Title

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Journal

Hum Mol Genet 24:5845-54 (2015)
DOI:10.1093/hmg/ddv305

LinkDB

» Japanese version

DBGET integrated database retrieval system