Hereditary Arterial and Articular Multiple Calcification Syndrome (HAAMCS) / CALJA / ACDC — Disease Characteristics Research Report

Executive summary

Hereditary arterial and articular multiple calcification syndrome is an ultra-rare Mendelian ectopic-mineralization disorder caused by biallelic loss-of-function variants in NT5E (encoding the ecto-5′-nucleotidase CD73). It is characterized by medial calcification of medium-to-large peripheral arteries (predominantly lower extremities) and periarticular calcifications (often hands/feet/wrists/ankles), producing intermittent claudication and chronic limb ischemia plus arthritis-like symptoms, early osteoarthritis, severe joint pain and deformity. The best-supported molecular mechanism is loss of CD73-generated adenosine, leading to increased TNAP activity, reduced functional pyrophosphate (PPi) anti-mineralization capacity, and increased propensity for hydroxyapatite deposition in arterial media and periarticular tissues. Recent (2024) clinical-trial evidence suggests etidronate is safe and may slow progression of lower-extremity arterial calcification on CT, without reversal of established calcifications.

1. Disease information

1.1 Concise overview (what is the disease?)

Arterial calcification due to deficiency of CD73 (ACDC; used synonymously with CALJA/HAAMCS in recent clinical literature) is described as a “very rare autosomal recessive ectopic mineralization syndrome” caused by loss-of-function variants in NT5E, producing “massive de novo calcifications” in the media of medium-to-large arteries (predominantly lower extremities) and periarticular regions, causing claudication, rest ischemic pain, severe joint pain, and deformities. (ferrante2024pilotstudyto pages 1-3)

1.2 Key identifiers and synonyms

A compact normalization table is provided below.

Table: This table summarizes the core naming and identifier information for hereditary arterial and articular multiple calcification syndrome, including accepted synonyms and disease-gene linkage. It is useful as a compact normalization reference for downstream knowledge base entry and curation.

Notes on missing identifiers: Orphanet, ICD-10/ICD-11, and MeSH identifiers were not present in the retrieved evidence set and therefore cannot be asserted here.

1.3 Evidence source type

Evidence in this report is derived primarily from: - Human primary clinical genetics (NEJM 2011) and case series/case reports (human clinical evidence). (hilaire2011nt5emutationsandarterial pages 1-2, mandalapu2024imagingfindingsof pages 1-2) - Human interventional trial protocol and pilot study (NIH; NCT01585402; Vascular Medicine 2024). (NCT01585402 chunk 2, ferrante2024pilotstudyto pages 1-3, ferrante2024pilotstudyto pages 6-8) - Mouse knockout model and mechanistic cell studies (in vivo and in vitro). (li2014juxtaarticularjointcapsulemineralization pages 1-3, hilaire2011nt5emutationsandarterial pages 8-10) - Recent mechanistic reviews situating the ABCC6→ENPP1→CD73→TNAP axis in ectopic calcification disorders. (kauffenstein2024thepurinergicnature pages 1-2)

2. Etiology

2.1 Disease causal factors

• Primary cause: germline biallelic (autosomal recessive) loss-of-function variants in NT5E, encoding CD73. (ferrante2024pilotstudyto pages 1-3, hilaire2011nt5emutationsandarterial pages 1-2)
• Mechanistic cause: CD73 deficiency disrupts extracellular nucleotide metabolism (AMP→adenosine) and removes adenosine-mediated suppression of TNAP, promoting ectopic calcification. (hilaire2011nt5emutationsandarterial pages 8-10, hilaire2011nt5emutationsandarterial pages 10-11)

2.2 Risk factors

• Genetic: pathogenic NT5E variants (see Section 4). Autosomal recessive inheritance is supported by consanguinity in an early pedigree and homozygous/compound heterozygous genotypes across families. (hilaire2011nt5emutationsandarterial pages 5-6, markello2011vascularpathologyof pages 2-4)
• Environmental/clinical: no validated environmental risk factors were identified in the retrieved disease-specific sources. General vascular-calcification literature emphasizes phosphate/pyrophosphate balance (e.g., hyperphosphatemia, PPi deficiency) as drivers of calcification, but these are not established as CALJA-specific modifiable risk factors. (villabellosta2024vascularcalcificationa pages 1-2, villabellosta2024vascularcalcificationa pages 6-7)

2.3 Protective factors

No disease-specific genetic or environmental protective factors were identified in the retrieved evidence. Mechanistically, restoring adenosine signaling or inhibiting TNAP reduces calcification in patient-derived cellular models, implying pathway-level protection, but this is not yet established as a clinical protective factor. (hilaire2011nt5emutationsandarterial pages 8-10)

2.4 Gene–environment interactions

No explicit gene–environment interaction studies specific to CALJA/ACDC were identified in the retrieved evidence. However, murine phenotype expressivity varies with genetic background (e.g., Abcc6 allele confounding) and diet (high phosphorus/low magnesium “acceleration diet”), suggesting context dependence in ectopic mineralization processes. (li2014juxtaarticularjointcapsulemineralization pages 3-4, li2014juxtaarticularjointcapsulemineralization pages 6-7)

3. Phenotypes

A structured phenotype table with HPO suggestions is provided here.

Table: This table summarizes the core clinical and laboratory phenotypes reported for calcification of joints and arteries / arterial calcification due to CD73 deficiency, with suggested HPO terms and concise notes on onset, frequency, and severity where available. It is designed to support disease knowledge-base curation and phenotype annotation.

3.1 Age of onset and progression (from clinical evidence)

• Mean age for joint symptoms: ~17 years (pilot-study background). (ferrante2024pilotstudyto pages 1-3)
• Mean age for claudication: ~29 years (pilot-study background). (ferrante2024pilotstudyto pages 1-3)
• Disease can progress to severe occlusive disease: in the 2024 etidronate pilot cohort, all had activity-limiting claudication and “complete occlusion of most of the large lower-extremity arteries” was noted as baseline severity in many. (ferrante2024pilotstudyto pages 6-8)

3.2 Quality of life impact

Direct validated QoL instruments (EQ-5D/SF-36/PROMIS) were not found in the retrieved evidence. Functional limitation is strongly implied by activity-limiting claudication and severe joint pain/deformities in trial/case literature. (ferrante2024pilotstudyto pages 6-8, ferrante2024pilotstudyto pages 1-3)

4. Genetic / molecular information

4.1 Causal gene(s)

• NT5E (encodes CD73; ecto-5′-nucleotidase) is the established causal gene. (hilaire2011nt5emutationsandarterial pages 1-2)

4.2 Pathogenic variants (examples and classes)

Variant examples and classes are summarized here.

Table: This table summarizes NT5E pathogenic variants reported in the retrieved evidence for hereditary arterial and articular multiple calcification syndrome / CALJA / ACDC. It highlights variant class, inheritance context, and the main associated vascular and periarticular phenotypes for rapid knowledge-base curation.

Variant classes observed across reports include: nonsense, missense, frameshift, splice-site, and start-loss variants. (hilaire2011nt5emutationsandarterial pages 7-8, joolharzadeh2019cd73(clusterof pages 2-3, maffi2023calcificationofjoints pages 1-2)

ClinVar/gnomAD allele frequency data: not available in the retrieved full-text evidence; therefore, population frequencies cannot be reliably reported here.

4.3 Functional consequences

Primary data indicate NT5E mutations produced “essentially nonfunctional CD73,” with patient fibroblasts showing nearly absent CD73 activity and rescue of AMP-dependent phosphate production after CD73 re-expression. (hilaire2011nt5emutationsandarterial pages 7-8)

4.4 Pathways and mechanistic chain (current understanding)

Core pathway (disease-relevant extracellular purine/PPi axis): - ENPP1 converts extracellular ATP to AMP and pyrophosphate (PPi); CD73 (NT5E) converts AMP to adenosine and inorganic phosphate (Pi). (hilaire2011nt5emutationsandarterial pages 10-11) - PPi inhibits calcification; TNAP degrades PPi; adenosine inhibits TNAP. Thus, CD73 deficiency lowers adenosine, increasing TNAP activity and favoring calcification. (hilaire2011nt5emutationsandarterial pages 10-11)

Direct mechanistic evidence (patient cells): CD73-deficient fibroblasts showed increased TNAP staining/activity and calcium phosphate crystal formation that was prevented by CD73 rescue, adenosine supplementation, or a TNAP inhibitor (levamisole). (hilaire2011nt5emutationsandarterial pages 8-10)

Integration with broader ectopic calcification spectrum (recent review perspective, 2024): ABCC6, ENPP1, and CD73 are presented as a functional sequence generating two inhibitors of calcification—PPi and adenosine—and CALJA (NT5E/CD73 mutations) is described as part of a continuum with PXE and GACI. (kauffenstein2024thepurinergicnature pages 1-2)

Suggested ontology terms

• GO Biological Process (examples): extracellular nucleotide catabolic process; regulation of biomineral tissue development; regulation of alkaline phosphatase activity; biomineralization.
• GO Molecular Function (examples): 5′-nucleotidase activity; AMP phosphohydrolase activity.
• CL (cell types likely central): vascular smooth muscle cell (VSMC); fibroblast.

(These ontology suggestions reflect the mechanisms explicitly described in primary studies and reviews, but are not directly enumerated in the retrieved texts.) (hilaire2011nt5emutationsandarterial pages 8-10, joolharzadeh2019cd73(clusterof pages 2-3)

5. Environmental information

No disease-specific environmental, lifestyle, toxin, or infectious triggers were identified in the retrieved evidence. Murine work indicates that mineralization phenotypes can be influenced by dietary phosphorus/magnesium content and genetic background, but translation to human modifiable exposures remains unproven. (li2014juxtaarticularjointcapsulemineralization pages 6-7, li2014juxtaarticularjointcapsulemineralization pages 3-4)

6. Mechanism / pathophysiology

6.1 Causal chain (upstream → downstream)

1. Trigger: biallelic LOF variants in NT5E → absent/nonfunctional CD73. (hilaire2011nt5emutationsandarterial pages 1-2)
2. Upstream biochemical effect: impaired conversion of AMP to adenosine (reduced extracellular adenosine signaling). (hilaire2011nt5emutationsandarterial pages 10-11)
3. Intermediate regulatory effect: reduced adenosine-mediated inhibition of TNAP → increased TNAP activity and accelerated PPi breakdown. (hilaire2011nt5emutationsandarterial pages 10-11, hilaire2011nt5emutationsandarterial pages 8-10)
4. Downstream physicochemical effect: reduced local anti-mineralization capacity (functional PPi deficiency / increased Pi/PPi ratio) → calcium phosphate (hydroxyapatite) precipitation in susceptible tissues. (hilaire2011nt5emutationsandarterial pages 8-10, maffi2023calcificationofjoints pages 1-2)
5. Tissue pathology: medial arterial calcification (peripheral arteries) + periarticular calcific deposits. (ferrante2024pilotstudyto pages 1-3, mandalapu2024imagingfindingsof pages 1-2)
6. Clinical manifestations: claudication/ischemia and arthritis-like pain/deformity. (ferrante2024pilotstudyto pages 1-3, mandalapu2024imagingfindingsof pages 1-2)

6.2 Cell types and processes

• Human pathology is described as medial and nonatherosclerotic calcification with vascular smooth muscle disorganization/dysplasia in review summaries. (joolharzadeh2019cd73(clusterof pages 2-3)
• Patient-derived fibroblast models demonstrate TNAP upregulation and crystal formation under calcifying conditions. (hilaire2011nt5emutationsandarterial pages 8-10)

7. Anatomical structures affected

7.1 Organ/system level

• Cardiovascular system: lower-extremity arteries (femoral, popliteal, tibial and related beds) are the dominant vascular sites; trunk/coronaries may be relatively spared in some imaging cases. (mandalapu2024imagingfindingsof pages 1-2, maffi2023calcificationofjoints pages 5-6)
• Musculoskeletal system: periarticular tissues and small joints of hands/feet/wrists/ankles; can involve other joints (feet/shoulders/elbows/hips/spine) in the etidronate pilot cohort description. (ferrante2024pilotstudyto pages 6-8)

7.2 Tissue/cell level and suggested ontology mapping

• UBERON (examples): femoral artery; popliteal artery; tibial artery; wrist joint; metacarpophalangeal joint; periarticular region.
• CL (examples): vascular smooth muscle cell; fibroblast.
• GO cellular component (examples): extracellular region; plasma membrane (for GPI-anchored CD73).

(These are suggested mappings; the retrieved evidence provides strong anatomic specificity but does not itself enumerate UBERON/CL identifiers.) (mandalapu2024imagingfindingsof pages 1-2, ferrante2024pilotstudyto pages 6-8)

8. Temporal development

• Onset is typically adolescent-to-adult, with joint manifestations reported earlier than vascular claudication on average. (ferrante2024pilotstudyto pages 1-3)
• Course is progressive in many cases, potentially leading to occlusions and chronic limb-threatening ischemia. (ferrante2024pilotstudyto pages 6-8, maffi2023calcificationofjoints pages 5-6)

9. Inheritance and population

• Inheritance: autosomal recessive (supported by consanguinity, disease confined to one generation, and biallelic genotypes). (hilaire2011nt5emutationsandarterial pages 5-6, markello2011vascularpathologyof pages 2-4)
• Epidemiology: ultra-rare. A 2024 trial background states “fewer than 20 patients reported worldwide” and a prevalence “<1 in 1,000,000,” while a 2023 CALJA review states “Only 23 cases have been described so far.” (ferrante2024pilotstudyto pages 1-3, maffi2023calcificationofjoints pages 1-2)
• Population-specific variants/founder effects: not systematically established in the retrieved evidence.

10. Diagnostics

A structured diagnostics and management table is provided below.

Table: This table summarizes the main clinical diagnostic modalities and current management evidence for CALJA/ACDC, emphasizing how the disease is recognized in practice and what treatment approaches have supporting data. It is useful for translating case reports and the 2024 pilot study into a structured knowledge base format.

10.1 Imaging hallmarks (visual evidence)

Radiology figures from the 2024 case report demonstrate representative patterns of dense popliteal/femoral arterial calcification and tortuosity plus periarticular hand calcifications, consistent with the core phenotype. (mandalapu2024imagingfindingsof media 377fe2eb, mandalapu2024imagingfindingsof media 00a5cd92, mandalapu2024imagingfindingsof media a1258f08)

10.2 Differential diagnosis

Differential diagnoses highlighted in the 2024 imaging case include pseudoxanthoma elasticum, generalized arterial calcification of infancy, chronic renal failure/secondary hyperparathyroidism, gout, and scleroderma, with dual-energy CT used to exclude urate. (mandalapu2024imagingfindingsof pages 1-2, mandalapu2024imagingfindingsof pages 2-4)

10.3 Genetic testing approach (implementation)

Diagnosis is confirmed by identification of pathogenic NT5E variants; recent literature supports the utility of systematic NGS panel approaches for overlapping vascular calcification phenotypes (including NT5E and related genes such as ENPP1 and ABCC6). (maffi2023calcificationofjoints pages 1-2)

11. Outcome / prognosis

• Prognosis remains incompletely defined due to rarity. Severe morbidity can result from progressive lower-extremity arterial occlusion and debilitating joint pain. (ferrante2024pilotstudyto pages 6-8, ferrante2024pilotstudyto pages 1-3)
• Quantitative survival or life-expectancy statistics were not available in the retrieved disease-specific evidence.

12. Treatment

12.1 Targeted / disease-modifying evidence: etidronate

NIH pilot study (Vascular Medicine, Apr 2024; DOI: https://doi.org/10.1177/1358863X241235669; publication date Apr 2024): - Seven adults with genetically confirmed ACDC received intermittent etidronate (14 days every 3 months for 3 years). (ferrante2024pilotstudyto pages 3-4) - Primary endpoints included lower-extremity CT calcium score and ABI; authors conclude etidronate “appeared to have slowed the progression of further vascular calcification” but did not reverse existing vascular or periarticular calcifications; it was “safe and well tolerated.” (ferrante2024pilotstudyto pages 1-3) - Additional reported quantitative context includes coronary Agatston scores (mean prestudy 183 ± 43; posttreatment 226 ± 84) in the cohort description. (ferrante2024pilotstudyto pages 6-8)

Trial registration: ClinicalTrials.gov NCT01585402 (interventional; completed; enrollment 7; Phase 2). URL: https://clinicaltrials.gov/study/NCT01585402 (NCT01585402 chunk 2)

12.2 Symptom-directed and supportive management (real-world)

• Colchicine: in a CALJA case with persistent inflammatory marker elevation, colchicine “ameliorated articular symptoms and normalized inflammatory markers,” but claudication was unaffected. (maffi2023calcificationofjoints pages 1-2)
• NSAIDs: reported effective for acute joint flares in a rheumatology case report. (ichikawa2015arterialcalcificationdue pages 1-1)
• Revascularization surgery: femoral-to-posterior tibial bypass improved symptoms in a severe case (evidence of advanced PAD management). (markello2011vascularpathologyof pages 2-4)
• Antiplatelet/statin/vascular risk management: used in case-based management; a 2024 imaging case described stabilization with medical therapy and NIH trial participation. (mandalapu2024imagingfindingsof pages 1-2)

Suggested MAXO terms (examples)

• Etidronate therapy (bisphosphonate therapy)
• Antiplatelet therapy
• Vascular bypass surgery
• Colchicine therapy
• Nonsteroidal anti-inflammatory drug therapy

(MAXO identifiers were not present in the retrieved evidence; these are mapping suggestions for knowledge base use.)

13. Prevention

No primary prevention is established beyond: - Genetic counseling (autosomal recessive inheritance; cascade testing where a familial NT5E variant is known). (hilaire2011nt5emutationsandarterial pages 5-6) - Secondary/tertiary prevention: early recognition of the distinctive imaging pattern and ABI impairment to avoid misdiagnosis and inappropriate immunosuppression, and to implement vascular surveillance and symptom management. (maffi2023calcificationofjoints pages 1-2, mandalapu2024imagingfindingsof pages 1-2)

14. Other species / natural disease

No naturally occurring veterinary disease analogs were identified in the retrieved evidence.

15. Model organisms

15.1 Mouse model (Nt5e/CD73 deficiency)

A key model is the Nt5e−/− (CD73-deficient) mouse (Nt5e^tm1Jgsc). These mice develop juxta-articular/joint-capsule mineralization and show biochemical shifts consistent with a pro-mineralization state (increased serum Pi, decreased plasma PPi, increased Pi/PPi ratio), but lack overt vascular mineralization, indicating partial phenotypic recapitulation and important species/model limitations. (li2014juxtaarticularjointcapsulemineralization pages 1-3, li2014juxtaarticularjointcapsulemineralization pages 4-5)

15.2 Model limitations and implications

Species/model differences (including adenosine metabolism differences and tissue microenvironment differences) likely contribute to the absent vascular phenotype in mice, as emphasized in expert review. (joolharzadeh2019cd73(clusterof pages 3-4)

Recent developments and authoritative expert perspectives (2023–2024 emphasis)

• 2023: CALJA case report/review emphasizes frequent rheumatologic misdiagnosis, limited treatment options, and case-based response to colchicine in an inflammatory phenotype; it reiterates rarity (“Only 23 cases have been described so far.”). URL: https://doi.org/10.1007/s42399-023-01485-1 (published May 2023). (maffi2023calcificationofjoints pages 1-2)
• 2024: NIH pilot trial reports safety and signals of slowed vascular calcification progression with etidronate, providing the strongest prospective human interventional evidence to date. URL: https://doi.org/10.1177/1358863X241235669 (published Apr 2024). (ferrante2024pilotstudyto pages 1-3, ferrante2024pilotstudyto pages 6-8)
• 2024: A mechanistic review frames CALJA/NT5E within a broader “purinergic disease” continuum (ABCC6→ENPP1→CD73→TNAP) linking PPi and adenosine as dual anti-calcification factors. URL: https://doi.org/10.3390/biology13020074 (published Jan 2024). (kauffenstein2024thepurinergicnature pages 1-2)

Key gaps (evidence not found in retrieved sources)

• Orphanet/ICD-10/ICD-11/MeSH identifiers.
• Robust prevalence/incidence estimates beyond case counts and rough prevalence assertions.
• Systematic variant-level population frequencies (gnomAD) and ClinVar classifications.
• Standardized clinical diagnostic criteria and validated QoL instruments.
• Long-term survival/mortality statistics.

References (URLs and dates where available)

• St Hilaire et al. “NT5E mutations and arterial calcifications.” NEJM (Feb 2011). DOI/URL: https://doi.org/10.1056/NEJMoa0912923 (hilaire2011nt5emutationsandarterial pages 1-2)
• Ferrante et al. “Pilot study … etidronate … ACDC.” Vascular Medicine (Apr 2024). DOI/URL: https://doi.org/10.1177/1358863X241235669 (ferrante2024pilotstudyto pages 1-3)
• ClinicalTrials.gov NCT01585402 (posted 2012; completed). URL: https://clinicaltrials.gov/study/NCT01585402 (NCT01585402 chunk 2)
• Maffi et al. “Calcification of joints and arteries (CALJA) … case report and literature review.” SN Comprehensive Clinical Medicine (May 2023). DOI/URL: https://doi.org/10.1007/s42399-023-01485-1 (maffi2023calcificationofjoints pages 1-2)
• Mandalapu & Stevens. “Imaging findings … ACDC: A case study.” Journal of Radiology Case Reports (Feb 2024). DOI/URL: https://doi.org/10.3941/jrcr.v17i12.5175 (mandalapu2024imagingfindingsof pages 1-2)
• Li et al. “Juxta-articular joint-capsule mineralization in CD73 deficient mice …” Cell Cycle (Aug 2014). DOI/URL: https://doi.org/10.4161/15384101.2014.943567 (li2014juxtaarticularjointcapsulemineralization pages 1-3)
• Kauffenstein et al. “The purinergic nature of pseudoxanthoma elasticum.” Biology (Jan 2024). DOI/URL: https://doi.org/10.3390/biology13020074 (kauffenstein2024thepurinergicnature pages 1-2)

References

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2. (maffi2023calcificationofjoints pages 1-2): Michele Maffi, Giammarco De Mattia, Maria Rosa Mazzoni, Angela Michelucci, Benedetta Toschi, Caligo Maria Adelaide, Marta Mosca, and Maurizio Mazzantini. Calcification of joints and arteries (calja) is a rare cause of arthritis and lower limb ischemia: case report and literature review. SN Comprehensive Clinical Medicine, 5:1-8, May 2023. URL: https://doi.org/10.1007/s42399-023-01485-1, doi:10.1007/s42399-023-01485-1. This article has 2 citations and is from a peer-reviewed journal.

3. (maffi2023calcificationofjoints pages 6-7): Michele Maffi, Giammarco De Mattia, Maria Rosa Mazzoni, Angela Michelucci, Benedetta Toschi, Caligo Maria Adelaide, Marta Mosca, and Maurizio Mazzantini. Calcification of joints and arteries (calja) is a rare cause of arthritis and lower limb ischemia: case report and literature review. SN Comprehensive Clinical Medicine, 5:1-8, May 2023. URL: https://doi.org/10.1007/s42399-023-01485-1, doi:10.1007/s42399-023-01485-1. This article has 2 citations and is from a peer-reviewed journal.

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7. (maffi2023calcificationofjoints pages 2-5): Michele Maffi, Giammarco De Mattia, Maria Rosa Mazzoni, Angela Michelucci, Benedetta Toschi, Caligo Maria Adelaide, Marta Mosca, and Maurizio Mazzantini. Calcification of joints and arteries (calja) is a rare cause of arthritis and lower limb ischemia: case report and literature review. SN Comprehensive Clinical Medicine, 5:1-8, May 2023. URL: https://doi.org/10.1007/s42399-023-01485-1, doi:10.1007/s42399-023-01485-1. This article has 2 citations and is from a peer-reviewed journal.

8. (mandalapu2024imagingfindingsof pages 1-2): Aniruddh Mandalapu and Kathryn J Stevens. Imaging findings of arterial calcification due to deficiency of cd73: a case study. Journal of Radiology Case Reports, 17:27-33, Feb 2024. URL: https://doi.org/10.3941/jrcr.v17i12.5175, doi:10.3941/jrcr.v17i12.5175. This article has 1 citations.

9. (NCT01585402 chunk 2): Etidronate for Arterial Calcifications Due to Deficiency in CD73 (ACDC). National Heart, Lung, and Blood Institute (NHLBI). 2012. ClinicalTrials.gov Identifier: NCT01585402

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11. (li2014juxtaarticularjointcapsulemineralization pages 1-3): Qiaoli Li, Thea P Price, John P Sundberg, and Jouni Uitto. Juxta-articular joint-capsule mineralization in cd73 deficient mice: similarities to patients with nt5e mutations. Cell Cycle, 13:2609-2615, Aug 2014. URL: https://doi.org/10.4161/15384101.2014.943567, doi:10.4161/15384101.2014.943567. This article has 64 citations and is from a peer-reviewed journal.

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13. (kauffenstein2024thepurinergicnature pages 1-2): Gilles Kauffenstein, Ludovic Martin, and Olivier Le Saux. The purinergic nature of pseudoxanthoma elasticum. Biology, Jan 2024. URL: https://doi.org/10.3390/biology13020074, doi:10.3390/biology13020074. This article has 8 citations.

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15. (villabellosta2024vascularcalcificationa pages 1-2): Ricardo Villa-Bellosta. Vascular calcification: a passive process that requires active inhibition. Biology, 13:111, Feb 2024. URL: https://doi.org/10.3390/biology13020111, doi:10.3390/biology13020111. This article has 29 citations.

16. (villabellosta2024vascularcalcificationa pages 6-7): Ricardo Villa-Bellosta. Vascular calcification: a passive process that requires active inhibition. Biology, 13:111, Feb 2024. URL: https://doi.org/10.3390/biology13020111, doi:10.3390/biology13020111. This article has 29 citations.

17. (li2014juxtaarticularjointcapsulemineralization pages 3-4): Qiaoli Li, Thea P Price, John P Sundberg, and Jouni Uitto. Juxta-articular joint-capsule mineralization in cd73 deficient mice: similarities to patients with nt5e mutations. Cell Cycle, 13:2609-2615, Aug 2014. URL: https://doi.org/10.4161/15384101.2014.943567, doi:10.4161/15384101.2014.943567. This article has 64 citations and is from a peer-reviewed journal.

18. (li2014juxtaarticularjointcapsulemineralization pages 6-7): Qiaoli Li, Thea P Price, John P Sundberg, and Jouni Uitto. Juxta-articular joint-capsule mineralization in cd73 deficient mice: similarities to patients with nt5e mutations. Cell Cycle, 13:2609-2615, Aug 2014. URL: https://doi.org/10.4161/15384101.2014.943567, doi:10.4161/15384101.2014.943567. This article has 64 citations and is from a peer-reviewed journal.

19. (joolharzadeh2019cd73(clusterof pages 2-3): Pouya Joolharzadeh and Cynthia St. Hilaire. Cd73 (cluster of differentiation 73) and the differences between mice and humans. Arteriosclerosis, Thrombosis, & Vascular Biology, 39:339-348, Mar 2019. URL: https://doi.org/10.1161/atvbaha.118.311579, doi:10.1161/atvbaha.118.311579. This article has 60 citations and is from a domain leading peer-reviewed journal.

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21. (maffi2023calcificationofjoints pages 5-6): Michele Maffi, Giammarco De Mattia, Maria Rosa Mazzoni, Angela Michelucci, Benedetta Toschi, Caligo Maria Adelaide, Marta Mosca, and Maurizio Mazzantini. Calcification of joints and arteries (calja) is a rare cause of arthritis and lower limb ischemia: case report and literature review. SN Comprehensive Clinical Medicine, 5:1-8, May 2023. URL: https://doi.org/10.1007/s42399-023-01485-1, doi:10.1007/s42399-023-01485-1. This article has 2 citations and is from a peer-reviewed journal.

22. (mandalapu2024imagingfindingsof pages 2-4): Aniruddh Mandalapu and Kathryn J Stevens. Imaging findings of arterial calcification due to deficiency of cd73: a case study. Journal of Radiology Case Reports, 17:27-33, Feb 2024. URL: https://doi.org/10.3941/jrcr.v17i12.5175, doi:10.3941/jrcr.v17i12.5175. This article has 1 citations.

23. (joolharzadeh2019cd73(clusterof pages 4-5): Pouya Joolharzadeh and Cynthia St. Hilaire. Cd73 (cluster of differentiation 73) and the differences between mice and humans. Arteriosclerosis, Thrombosis, & Vascular Biology, 39:339-348, Mar 2019. URL: https://doi.org/10.1161/atvbaha.118.311579, doi:10.1161/atvbaha.118.311579. This article has 60 citations and is from a domain leading peer-reviewed journal.

24. (mandalapu2024imagingfindingsof pages 4-6): Aniruddh Mandalapu and Kathryn J Stevens. Imaging findings of arterial calcification due to deficiency of cd73: a case study. Journal of Radiology Case Reports, 17:27-33, Feb 2024. URL: https://doi.org/10.3941/jrcr.v17i12.5175, doi:10.3941/jrcr.v17i12.5175. This article has 1 citations.

25. (hilaire2011nt5emutationsandarterial pages 7-8): Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, Alfredo Brusco, Catherine Groden, Fred Gill, Hannah Carlson-Donohoe, Robert J. Lederman, Marcus Y. Chen, Dan Yang, Michael P. Siegenthaler, Carlo Arduino, Cecilia Mancini, Bernard Freudenthal, Horia C. Stanescu, Anselm A. Zdebik, R. Krishna Chaganti, Robert L. Nussbaum, Robert Kleta, William A. Gahl, and Manfred Boehm. nt5emutations and arterial calcifications. New England Journal of Medicine, 364:432-442, Feb 2011. URL: https://doi.org/10.1056/nejmoa0912923, doi:10.1056/nejmoa0912923. This article has 531 citations and is from a highest quality peer-reviewed journal.

26. (ferrante2024pilotstudyto pages 3-4): Elisa A Ferrante, Cornelia D Cudrici, Mahmood Rashidi, Yi-Ping Fu, Rebecca Huffstutler, Katherine Carney, Marcus Y Chen, Cynthia St Hilaire, Kevin Smith, Hadi Bagheri, James D Katz, Carlos R Ferreira, William A Gahl, Manfred Boehm, and Alessandra Brofferio. Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of cd73 (acdc). Vascular Medicine, 29:245-255, Apr 2024. URL: https://doi.org/10.1177/1358863x241235669, doi:10.1177/1358863x241235669. This article has 13 citations and is from a peer-reviewed journal.

27. (mandalapu2024imagingfindingsof media 377fe2eb): Aniruddh Mandalapu and Kathryn J Stevens. Imaging findings of arterial calcification due to deficiency of cd73: a case study. Journal of Radiology Case Reports, 17:27-33, Feb 2024. URL: https://doi.org/10.3941/jrcr.v17i12.5175, doi:10.3941/jrcr.v17i12.5175. This article has 1 citations.

28. (mandalapu2024imagingfindingsof media 00a5cd92): Aniruddh Mandalapu and Kathryn J Stevens. Imaging findings of arterial calcification due to deficiency of cd73: a case study. Journal of Radiology Case Reports, 17:27-33, Feb 2024. URL: https://doi.org/10.3941/jrcr.v17i12.5175, doi:10.3941/jrcr.v17i12.5175. This article has 1 citations.

29. (mandalapu2024imagingfindingsof media a1258f08): Aniruddh Mandalapu and Kathryn J Stevens. Imaging findings of arterial calcification due to deficiency of cd73: a case study. Journal of Radiology Case Reports, 17:27-33, Feb 2024. URL: https://doi.org/10.3941/jrcr.v17i12.5175, doi:10.3941/jrcr.v17i12.5175. This article has 1 citations.

30. (li2014juxtaarticularjointcapsulemineralization pages 4-5): Qiaoli Li, Thea P Price, John P Sundberg, and Jouni Uitto. Juxta-articular joint-capsule mineralization in cd73 deficient mice: similarities to patients with nt5e mutations. Cell Cycle, 13:2609-2615, Aug 2014. URL: https://doi.org/10.4161/15384101.2014.943567, doi:10.4161/15384101.2014.943567. This article has 64 citations and is from a peer-reviewed journal.

31. (joolharzadeh2019cd73(clusterof pages 3-4): Pouya Joolharzadeh and Cynthia St. Hilaire. Cd73 (cluster of differentiation 73) and the differences between mice and humans. Arteriosclerosis, Thrombosis, & Vascular Biology, 39:339-348, Mar 2019. URL: https://doi.org/10.1161/atvbaha.118.311579, doi:10.1161/atvbaha.118.311579. This article has 60 citations and is from a domain leading peer-reviewed journal.