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.

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) 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