Rhizomelic chondrodysplasia punctata

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Rhizomelic chondrodysplasia punctata
Plasmologen.svg
Low levels of plasmologen is a characteristic of Rhizomelic chondrodysplasia punctata.
SpecialtyMedical genetics Edit this on Wikidata
CausesPEX7 gene, GNPAT gene and AGPS gene mutations[1]
Diagnostic methodClinical and radiologic finding[2]
TreatmentPhysical therapy[3]

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens.[1]

Signs and symptoms[edit]

Rhizomelic chondrodysplasia punctata has the following symptoms:[3][4]

Genetics[edit]

This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner.[1]

Pathophysiology[edit]

ACAA1

The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. There are 3 pathways that count on PEX7 and are:[3][5]

  • AGPS (catalyzes plasmalogen biosynthesis)
  • PhYH (catalyzes catabolism of phytanic acid)
  • ACAA1 (catalyzes beta-oxidation of VLCFA - straight)

Diagnosis[edit]

Peroxisome (this condition affects the peroxisome causing peroxisome biogenesis disorders)

The diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing[6] as well as radiography results, plus a physical examination of the individual.[2]

Types[edit]

Treatment[edit]

Management of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people.[3] However, the prognosis is poor in this condition.[2]

See also[edit]

References[edit]

  1. ^ a b c Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. Retrieved 2017-01-16.
  2. ^ a b c RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Rhizomelic chondrodysplasia punctata". www.orpha.net. Retrieved 23 January 2017.
  3. ^ a b c d e Braverman, Nancy E.; Moser, Ann B.; Steinberg, Steven J. (1 January 1993). "Rhizomelic Chondrodysplasia Punctata Type 1". GeneReviews(®). University of Washington, Seattle. Retrieved 16 January 2017.update 2012
  4. ^ "Rhizomelic chondrodysplasia punctata type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 January 2017.
  5. ^ Brodsky, Michael C. (2016-06-28). Pediatric Neuro-Ophthalmology. Springer. p. 620. ISBN 9781493933846.
  6. ^ "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017.
  7. ^ "OMIM Entry - # 222765 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2". omim.org. Retrieved 16 January 2017.
  8. ^ "OMIM Entry - # 600121 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3". omim.org. Retrieved 2017-01-16.

Further reading[edit]

External links[edit]

Classification