ORPHA:289601
Hereditary arterial and articular multiple calcification syndrome
Also known as: CALJA · Calcification of joints and arteries
Publications
80
58.1th percentile
Trials
0
Interventional, condition-specific
Researchers
442
Distinct authors in sample
Gene link
NT5E
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of 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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008895
- MeSH:C565891
- OMIM:211800
- UMLS:C1859372
Additional Mondo synonyms (1)
calcification of joints and arteries
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — NT5E
- LiteraturePresent
80 matched papers (63 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (NT5E).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
80
80 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
80 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
63 in the last 10 years · high confidence · 58.1th percentile (publications denominator)
Phrase hits: 80 · MeSH hits: 3
Who's working on it?
442
Distinct author names in 80 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Martin L9 papers · 2024
UMR CNRS 6015-Inserm 1083, School of Medicine, Bretagne Loire University, 49045 Angers, France. LuMartin@chu-angers.fr.
Papers in Europe PMC - 02Le Saux O8 papers · 2026
Department Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI 96813, USA. lesaux@hawaii.edu.
Papers in Europe PMC - 03St Hilaire C5 papers · 2022
Division of Cardiology, Department of Medicine, and the Pittsburgh Heart, Lung, and Blood Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, United States.
Papers in Europe PMC - 04Pomozi V4 papers · 2026
Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA; Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences, Budapest, Hungary.
Papers in Europe PMC - 05Váradi A4 papers · 2026
Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences, Budapest, Hungary.
Papers in Europe PMC - 06Boehm M3 papers · 2022
National Heart, Lung, and Blood Institute, Bethesda, MD, USA.
Papers in Europe PMC - 07Gahl WA3 papers · 2022
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20814, USA.
Papers in Europe PMC - 08Kauffenstein G3 papers · 2024
UMR CNRS 6015-Inserm 1083, School of Medicine, Bretagne Loire University, 49045 Angers, France. gilles.kauffenstein@gmail.com.
Papers in Europe PMC - 09Kuo S3 papers · 2021
Department of Pediatrics Kapi'olani Medical Center for Women and Children and University of Hawaii, John A. Burns School of Medicine, Honolulu, Hawaii, USA.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Hereditary arterial and articular multiple calcification syndrome" OR "CALJA" OR "Calcification of joints and arteries" OR "Calcification of the joints and arteries"
MeSH descriptor terms unioned into the query: Calcification of Joints and Arteries
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary arterial and articular multiple calcification syndrome" OR "CALJA" OR "Calcification of joints and arteries" OR "Calcification of the joints and arteries" OR "NT5E"
Recall-expansion terms: NT5E
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:16:08.255Z