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]
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]
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]
Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency [4]
This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition [5]
This condition was first described in 2011. [6]
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]
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]
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]
Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency [4]
This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition [5]
This condition was first described in 2011. [6]