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hereditary arterial and articular multiple calcification syndrome (CALJA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary arterial and articular multiple calcification syndrome

MONDO:0008895

Also known as:CALJAcalcification of joints and arteriesACDC

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Overview

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.

GeneticsAutosomal recessive · NT5E (chr 6)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intermittent claudication, Femoral arterial calcification, and Iliac arterial calcification; and very common findings: Tibial arterial calcification. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Coronary artery calcification

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NT5E encodes 5'-nucleotidase ecto (574 aa). Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, with AMP being the preferred substrate. Highest expression in Cells Cultured fibroblasts (191.9 TPM) and Cervix Ectocervix (81.7 TPM).

Hereditary arterial and articular multiple calcification syndrome is associated with mutations in the NT5E gene on chromosome 6.

The NT5E protein participates in CMP or TMP or UMP + H2O = cytidine, thymidine, or uridine + orthophosphate [NT5E], NT5E:Zn2+ hydrolyses NAD+, and NT5E:Zn2+ hydrolyses NMN pathways.

NT5E is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and External Side Of Plasma Membrane categories) with score 5.5.

Diagnosis

Genetic testing for NT5E is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for hereditary arterial and articular multiple calcification syndrome. Research spans Review / Meta-Analysis (43%), Other (29%), and Basic Science / Preclinical (29%).

Recent Publications

Towler DA (2026). [PMID: 41802024](https://pubmed.ncbi.nlm.nih.gov/41802024/). *Circulation*. [Review / Meta-Analysis]
Sakuma T (2026). [PMID: 41899397](https://pubmed.ncbi.nlm.nih.gov/41899397/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Wang B (2026). [PMID: 41286125](https://pubmed.ncbi.nlm.nih.gov/41286125/). *Eur J Nucl Med Mol Imaging*. [Basic Science / Preclinical]
Derudder R (2026). [PMID: 41376271](https://pubmed.ncbi.nlm.nih.gov/41376271/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Nakano S (2025). [PMID: 40183481](https://pubmed.ncbi.nlm.nih.gov/40183481/). *J Dermatol*. [Other]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211800

Orphanet

European rare disease database

Orphanet:289601

GARD

Genetic and Rare Diseases Info Center

GARD:10762

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary arterial and articular multiple calcification syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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