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IEMbase 0782: NT5E-related ecto-5'-nucleotidase deficiency

Scope

Field Value
IEMbase ID 782
Nosology 16.3.14.01
Nosology code IEM0039
Gene NT5E
External IDs OMIM:211800; ORPHA:289601
Generated mapping MAPPED; Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome
Candidate DisMech targets Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml
Review date 2026-07-11

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as NT5E-related ecto-5'-nucleotidase deficiency, with alternate name arterial calcification due to deficiency of CD73 and abbreviation ACDC. The signal includes adult-onset arterial calcification of iliac, femoral, and tibial arteries, intermittent claudication, periarticular calcification, tendon calcification, and possible calcification of cardiac valve rings or the aorta.

DisMech phenotype coverage

Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml is the correct local target. It models biallelic NT5E/CD73 loss, reduced extracellular adenosine generation, TNAP upregulation, pyrophosphate depletion, ectopic arterial and periarticular calcification, arterial calcification, intermittent claudication, periarticular calcification, arthritis, arthralgia, joint deformity, arterial tortuosity/arteriomegaly, genetic testing, etidronate, and supportive vascular/joint management.

Concordance and completeness

Judgement: exact disease coverage.

The gene, OMIM identity, inheritance, ACDC synonym, lower-extremity arterial calcification, claudication, and periarticular mineralization are concordant. The local entry is mechanistically richer than IEMbase because it explicitly models CD73 loss, extracellular adenosine, alkaline phosphatase, and pyrophosphate-linked mineralization. IEMbase adds a few phenotype-review prompts not emphasized locally, especially tendon calcification and possible cardiac valve-ring or aortic calcification.

Curation actions

  • Treat Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml as exact local coverage for IEMbase 0782.
  • Preserve ACDC/CALJA/HAAMC as synonymous naming for this local target.
  • Consider future phenotype review for tendon calcification and cardiac valve-ring/aortic calcification if supported by source evidence.