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

Signs and symptoms

This condition is characterised by calcification of the peripheral arteries.

Causes

This condition is caused by mutations in the 5'-Nucleotidase Ecto (

NT5E 5′-nucleotidase (5′-NT), also known as ecto-5′-nucleotidase or CD73 (cluster of differentiation 73), is an enzyme that in humans is encoded by the ''NT5E'' gene. CD73 commonly serves to convert AMP to adenosine. Function Ecto-5-prime-nu ...

) gene.

Diagnosis

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

Epidemiology

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

History

This condition was first described in 2011.

References

{{DEFAULTSORT:Calcification of joints and arteries Rare genetic syndromes Congenital disorders Rare diseases Autosomal recessive disorders