Arterial calcification due to CD73 deficiency

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Arterial calcification due to CD73 deficiency

Arterial calcification due to CD73 deficiency or Calcification of joints and arteries is a rare genetic disorder affecting adults.[1]

Quick Facts Other names, Causes ...
Arterial calcification due to CD73 deficiency
Other namesCalcification of joints and arteries
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This condition is inherited via autosomal recessive manner
Causesmutations in the NT5E gene
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Signs and symptoms

This condition is characterised by calcification of the peripheral arteries.[2]

Causes

This condition is caused by mutations in the 5'-Nucleotidase Ecto (NT5E) gene.[3]

Diagnosis

Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency[4]

Epidemiology

This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition[5]

History

This condition was first described in 2011.[6]

References

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