Rhizomelic chondrodysplasia punctata

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Rhizomelic chondrodysplasia punctata
Plasmologen.svg
Low levels of plasmologen is a characteristic of Rhizomelic chondrodysplasia punctata
Classification and external resources
Specialty medical genetics
ICD-10 Q77.3
ICD-9-CM 277.86
OMIM 215100 222765 600121
DiseasesDB 31410
MeSH D018902

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/symptoms[edit]

In terms of the signs/symptoms of rhizomelic chondrodysplasia punctate one finds the following to be consistent with such a condition:[2][3]

Genetics[edit]

This condition is a consequence of mutations in the PEX7 gene, GNPAT gene (which is located on chromosome 1) and AGPS gene, the condition is acquired in a 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:[2][4]

  • 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 punctate can be based on genetic testing,[5] as well as radiography results, plus an examination(physical) of the individual.[6]

Types[edit]

Treatment[edit]

Management of rhizomelic chondrodysplasia punctate can include physical therapy, additionally orthopedic procedures improved function sometimes in affected people.[2] However the prognosis is poor in this condition.[6]

See also[edit]

References[edit]

  1. ^ a b Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. Retrieved 2017-01-16. 
  2. ^ a b c d 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
  3. ^ "Rhizomelic chondrodysplasia punctata type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 January 2017. 
  4. ^ Brodsky, Michael C. (2016-06-28). Pediatric Neuro-Ophthalmology. Springer. p. 620. ISBN 9781493933846. 
  5. ^ "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017. 
  6. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Rhizomelic chondrodysplasia punctata". www.orpha.net. 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]