Details of Disease | DrugMAP

General Information of Disease (ID: DISTD60L)

Disease Name	Hereditary arterial and articular multiple calcification syndrome
Synonyms	arterial calcification due to CD73 deficiency; arterial calcification due to deficiency of Cd73; arterial calcification and distal joint calcification; ACDC; calcification of joints and arteries; CALJA
Definition	Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.
Disease Hierarchy	DISYKSRF: Genetic disease DISVS67S: Vascular disease DISTD60L: Hereditary arterial and articular multiple calcification syndrome
Disease Identifiers	MONDO ID MONDO_0008895 MESH ID C565891 UMLS CUI C1859372 OMIM ID 211800 MedGen ID 347132 Orphanet ID 289601 SNOMED CT ID 718602007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NT5E	TTK0O6Y	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NT5E	DE3Z9HM	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NT5E	OT7J5LT6	Strong	Autosomal recessive	[2]
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References

1	Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC.Sci Signal. 2016 Dec 13;9(458):ra121. doi: 10.1126/scisignal.aaf9109.
2	NT5E mutations and arterial calcifications. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923.