hereditary arterial and articular multiple calcification syndrome

Term ID

DOID:0111582

Synonyms

• arterial calcification and distal joint calcification
• arterial calcification due to CD73 deficiency
• arterial calcification due to deficiency of CD73
• calcification of joints and arteries
• CALJA

Definition

A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. https://www.ncbi.nlm.nih.gov/pubmed/21288095

References

• GARD:10762
• MIM:211800
• ORDO:289601

Ontology

Human Disease   ( DOID:0111582 )