KEGG DISEASE: Rhizomelic chondrodysplasia punctata

KEGG

DISEASE: Rhizomelic chondrodysplasia punctata

Entry

H00207                      Disease

Name

Rhizomelic chondrodysplasia punctata

Subgroup

Peroxisomal fatty acyl-CoA reductase 1 disorder [DS:H02100]

Supergrp

Peroxisome biogenesis disorder [DS:H00205]

Description

Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.

Category

Inherited metabolic disorder, Peroxisomal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H00207  Rhizomelic chondrodysplasia punctata
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00207  Rhizomelic chondrodysplasia punctata

Pathway

Glycerophospholipid metabolism

Ether lipid metabolism

Peroxisome

Gene

(RCDP1) PEX7 [HSA:5191] [KO:K13341]
(RCDP2) GNPAT [HSA:8443] [KO:K00649]
(RCDP3) AGPS [HSA:8540] [KO:K00803]
(RCDP4) FAR1 [HSA:84188] [KO:K13356]
(RCDP5) PEX5 [HSA:5830] [KO:K13342]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

215100 222765 600121 616154 616716

Reference

Authors

Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW

Title

Peroxisome biogenesis disorders.

Journal

Biochim Biophys Acta 1763:1733-48 (2006)
DOI:10.1016/j.bbamcr.2006.09.010

Reference

Authors

Wanders RJ, Waterham HR

Title

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.

Journal

Clin Genet 67:107-33 (2005)
DOI:10.1111/j.1399-0004.2004.00329.x

Reference

Authors

Powers JM

Title

Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.

Journal

J Mol Neurosci 16:285-7; discussion 317-21 (2001)
DOI:10.1385/JMN:16:2-3:285

Reference

Authors

Gould SJ, Valle D

Title

Peroxisome biogenesis disorders: genetics and cell biology.

Journal

Trends Genet 16:340-5 (2000)
DOI:10.1016/S0168-9525(00)02056-4

Reference

Authors

de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ

Title

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.

Journal

J Lipid Res 40:1998-2003 (1999)

Reference

Authors

Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB

Title

Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Journal

Neurochem Res 24:581-6 (1999)
DOI:10.1023/A:1023957110171

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

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