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Rhizomelic Chondrodysplasia Punctata

An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Also Known As:
Chondrodysplasia Punctata, Rhizomelic; Chondrodysplasia Punctata, Rhizomelic Form; Chondrodysplasia Punctatas, Rhizomelic; Punctata, Rhizomelic Chondrodysplasia; Punctatas, Rhizomelic Chondrodysplasia; Rhizomelic Chondrodysplasia Punctatas
Networked: 87 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Peroxisomal Disorders (Peroxisomal Disorder)
2. Zellweger Syndrome (Zellweger's Syndrome)
3. Refsum Disease (Refsum's Disease)
4. Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
5. Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)

Experts

1. Ghaedi, Kamran: 4 articles (07/2014 - 03/2002)
2. Fujiki, Yukio: 3 articles (07/2014 - 03/2002)
3. Shafeghati, Yousef: 3 articles (07/2014 - 01/2013)
4. da Silva, Tiago Ferreira: 2 articles (01/2015 - 09/2012)
5. Malheiro, Ana R: 2 articles (01/2015 - 09/2012)
6. Brites, Pedro: 2 articles (01/2015 - 09/2012)
7. Nasr-Esfahani, Mohammad Hossein: 2 articles (04/2013 - 01/2013)
8. Mohamadynejad, Parisa: 2 articles (04/2013 - 01/2013)
9. Salamian, Ahmad: 2 articles (04/2013 - 01/2013)
10. Baharvand, Hossein: 2 articles (04/2013 - 01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rhizomelic Chondrodysplasia Punctata:
1. Phytanic AcidIBA
2. peroxisomal targeting signal 2 receptorIBA
3. Proteins (Proteins, Gene)IBA
07/01/2002 - "The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol."
12/01/1999 - "Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are necessary for the importation of targeted proteins into the peroxisomes. "
06/17/1996 - "Our observation that Pas7p also interacts with the human peroxisomal thiolase suggests that in the human peroxisomal disorders characterized by an import defect for PTS2 proteins (classical rhizomelic chondrodysplasia punctata), a functional homologue of Pas7p may be impaired."
04/15/2013 - "Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 protein to transport PTS2 containing proteins including peroxisomal 3-ketoacyl-CoA thiolase and PTS2-EGFP protein to the surface of the peroxisomes showed that the W75R mutation in PEX7 gene severely impaired the function of PEX7 protein and was responsible for RCDP type 1 in this patient."
12/28/1998 - "Pex7p function is conserved between yeasts and humans, with defects in the human protein causing rhizomelic chondrodysplasia punctata (RCDP), a severe, lethal peroxisome biogenesis disorder characterized by aberrant targeting of several PTS2 peroxisomal proteins, but uncertainty remains about the subcellular localization of this receptor. "
4. CholesterolIBA
5. PlasmalogensIBA
6. Ethyl Ether (Ether)IBA
7. Peroxisome biogenesis disordersIBA
8. pristanic acidIBA
05/01/1996 - "In fibroblasts from a child with rhizomelic chondrodysplasia punctata the rate of degradation of U-3H- and 1-14C-labelled phytanic acid was markedly reduced whereas the rate of degradation of U-3H-labelled pristanic acid was normal. "
09/01/1993 - "In the blood spot from a patient with rhizomelic chondrodysplasia punctata, the concentration of phytanic acid was increased, whereas pristanic acid was within the control range, resulting in a low pristanic acid/phytanic acid ratio. "
10/01/1992 - "Four different groups of diseases were characterized with a defective phytanic acid alpha-oxidation and/or pristanic acid beta-oxidation: 1) Refsum's disease, with a defect at phytanic acid alpha-hydroxylation; 2) rhizomelic chondrodysplasia punctata, with a defect at 2-hydroxyphytanic acid decarboxylation; 3) generalized peroxisomal disorders, with defects at 2-hydroxyphytanic acid decarboxylation and at pristanic acid beta-oxidation; 4) single peroxisomal beta-oxidation enzyme deficiencies, with a defect at pristanic acid beta-oxidation, resulting in an impaired phytanic acid alpha-oxidation by inhibition. "
10/01/1998 - "Also in rhizomelic chondrodysplasia punctata, phytanic acid accumulates, owing to a deficiency in the peroxisomal import of proteins with a peroxisomal targeting sequence type 2. In patients affected with generalized peroxisomal disorders, degradation of both phytanic acid and pristanic acid is impaired owing to absence of functional peroxisomes. "
10/24/1997 - "In cells from patients with a defective alpha-oxidation (Refsum disease, rhizomelic chondrodysplasia punctata and generalized peroxisomal disorders) 2-hydroxyphytanic acid and pristanic acid were low or not detectable, showing that in these disorders the hydroxylation of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA is deficient. "
9. Acyl-CoA OxidaseIBA
01/01/1991 - "We report very large hepatic peroxisomes (d-circle greater than 1 micron) in a patient with rhizomelic chondrodysplasia punctata and a patient with acyl-CoA oxidase deficiency. "
01/01/1991 - "Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data."
02/01/1997 - "Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with neonatal adrenoleukodystrophy (NALD), two with acyl-CoA oxidase deficiency (AOXD), two with bifunctional enzyme deficiency (BFED), and one with rhizomelic chondrodysplasia punctata (RCDP). "
01/01/1989 - "Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidaemia); (2) disorders with a loss of multiple peroxisomal functions (rhizomelic chondrodysplasia punctata and Zellweger-like syndrome; (3) disorders with loss of a single peroxisomal function (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency, bifunctional protein deficiency, acyl-CoA oxidase deficiency, classic Refsum disease, hyperoxaluria type I and acatalasaemia). "
07/01/2004 - "We have established the diagnostic role of pipecolic acid in 30 patients affected by a peroxisomal defect (5 Zellweger syndromes, 10 Infantile Refsum diseases, 1 neonatal adrenoleukodystrophy, 6 patients affected by a peroxisomal biogenesis disorder with unclassified phenotype, 1 case of rhizomelic chondrodysplasia punctata (RCDP), 2 acyl-CoA oxidase deficiencies, 2 bifunctional enzyme deficiencies, 2 Refsum diseases, and 1 beta-oxidation deficiency). "
10. LipidsIBA