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GTR Home > Conditions/Phenotypes > Hereditary arterial and articular multiple calcification syndrome

Hereditary arterial and articular multiple calcification syndrome

Synonyms
ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73; Calcification of joints and arteries
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Adult-onset calcification of the lower extremity arteries (CALJA), including the iliac, femoral, and tibial arteries, and hand and foot capsule joints, is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification of infancy (GACI), 208000). Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands (St. Hilaire et al., 2011). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CALJA, CD73, E5NT, NT, NT5, NTE, eN, eNT, NT5E
    Summary: 5'-nucleotidase ecto

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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