Arterial calcification due to CD73 deficiency
| Arterial calcification due to CD73 deficiency | |
|---|---|
| Other names | Calcification of joints and arteries |
 | |
| This condition is inherited via autosomal recessive manner | |
| Causes | mutations in the NT5E gene |
Arterial calcification due to CD73 deficiency or Calcification of joints and arteries is a rare genetic disorder affecting adults.[1]
Presentation[edit]
This condition is characterised by calcification of the peripheral arteries.[2] The lower limbs are more commonly affected than the upper limbs. This may be clinically silent but may also present with ischemia of the affected limb(s).[citation needed]
Genetics[edit]
This condition is caused by mutations in the 5'-Nucleotidase Ecto (NT5E) gene.[3] This gene is found on the long arm of chromosome 6 (6q14.3). The protein hydrolyies extracellular adenosine monophosphate. It is found on the cell surface of many cell types. The protein is also known as CD73. It acts as a homodimer and functions in conjunction with in concert with ectonucleoside triphosphate diphosphohydrolase-1 (ENTPD1) also known as CD39.This condition is inherited in an autosomal recessive fashion.[citation needed]
Diagnosis[edit]
Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency[4]
Incidence[edit]
This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition[5]
History[edit]
This condition was first described in 2011.[6]
References[edit]
- ^ Nitschke Y, Rutsch F (2012) Genetics in arterial calcification: Lessons learned From rare diseases. Trends Cardiovasc Med 22(6):145-149
- ^ "OMIM Entry - # 211800 - CALCIFICATION OF JOINTS AND ARTERIES; CALJA". www.omim.org. Retrieved 19 June 2020.
- ^ Kordaß T, Osen W and Eichmüller SB (2018) Controlling the immune suppressor: Transcription factors and microRNAs regulating CD73/NT5E Front. Immunol
- ^ "ACDC | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 19 June 2020.
- ^ "Orphanet: Hereditary arterial and articular multiple calcification syndrome". www.orpha.net. Retrieved 19 June 2020.
- ^ St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M (2011) NT5E mutations and arterial calcifications. N Engl J Med 364(5):432-42