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Rhizomelic Chondrodysplasia Punctata Summary

Description: 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 Show All >>

Networked: 87 relevant articles (0 outcomes, 3 trials/studies) for this Disease

Key Drugs and Agents for Rhizomelic Chondrodysplasia Punctata

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Phytanic Acid : 1 study in 17 results : IBA
  2. peroxisomal targeting signal 2 receptor : 1 study in 9 results : IBA
  3. Proteins (Proteins, Gene) : 1 study in 7 results : IBA
  4. Cholesterol : 1 study in 3 results : IBA
  5. Plasmalogens : 7 results : IBA
  6. Ethyl Ether (Ether) : 6 results : IBA
  7. Peroxisome biogenesis disorders : 6 results : IBA
  8. pristanic acid : 5 results : IBA
  9. Acyl-CoA Oxidase : 4 results : IBA
  10. Lipids : 4 results : IBA
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Diseases Related to Rhizomelic Chondrodysplasia Punctata

  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)
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Key Therapies for Rhizomelic Chondrodysplasia Punctata

Efficacy Chart >>

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