ORPHA:51608
Generalized arterial calcification of infancy
Also known as: Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy · Infantile arteriosclerosis · Occlusive infantile arteriopathy
Publications
677
88.6th percentile
Trials
6
Interventional, condition-specific
Researchers
1,046
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018870
- MeSH:C537440
- UMLS:C1859727
Additional Mondo synonyms (7)
Generalized Arterial Calcification of Infancy · generalised arterial calcification of infancy · generalized arterial calcification of infancy · idiopathic infantile arterial calcification · idiopathic obliterative arteriopathy · infantile arteriosclerosis · occlusive infantile arteriopathy
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
677 matched papers (420 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 trialPresent
6 matched on ClinicalTrials.gov (2 recruiting in sample)
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
677
677 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
677 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).
420 in the last 10 years · high confidence · 88.6th percentile (publications denominator)
Phrase hits: 677 · MeSH hits: 6
Who's working on it?
1,046
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Li Q19 papers · 2026
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, the PXE International Center of Excellence in Research and Clinical Care, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: qiaoli.li@jefferson.edu.
Papers in Europe PMC - 02Ferreira CR16 papers · 2025
7 National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, USA.
Papers in Europe PMC - 03Rutsch F16 papers · 2025
Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer-Campus 1, D-48149, Münster, Germany. frank.rutsch@ukmuenster.de.
Papers in Europe PMC - 04Uitto J13 papers · 2023
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, the PXE International Center of Excellence in Research and Clinical Care, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Papers in Europe PMC - 05Nitschke Y10 papers · 2025
Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer-Campus 1, D-48149, Münster, Germany.
Papers in Europe PMC - 06Braddock DT8 papers · 2025
Department of Pathology, Yale University, New Haven, CT, USA.
Papers in Europe PMC - 07Mughal MZ8 papers · 2026
Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK.
Papers in Europe PMC - 08Sabbagh Y8 papers · 2025
Research and Development, Inozyme Pharma, Boston, MA 02210, United States.
Papers in Europe PMC - 09Gafni RI7 papers · 2025
6 Section on Skeletal Disorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.
Papers in Europe PMC - 10Ziegler SG7 papers · 2026
10 Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
high confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05734196·RECRUITING·The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency · Autosomal Recessive Hypophosphatemic Rickets · Generalized Arterial Calcification of Infancy · ATP-Binding Cassette Subfamily C Member 6 Deficiency·Matched via name + MeSH
- NCT07473973·RECRUITING·ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency
Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency · Autosomal Recessive Hypophosphatemic Rickets · Generalized Arterial Calcification of Infancy 1·Matched via name + MeSH
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Generalized arterial calcification of infancy" OR "Generalized arterial calcification of the infancy" OR "Idiopathic infantile arterial calcification" OR "Idiopathic obliterative arteriopathy" OR "Infantile arteriosclerosis" OR "Occlusive infantile arteriopathy" OR "generalised arterial calcification of infancy" OR "generalised arterial calcification of the infancy"
MeSH descriptor terms unioned into the query: Arterial calcification of infancy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Generalized arterial calcification of infancy" OR "Generalized arterial calcification of the infancy" OR "Idiopathic infantile arterial calcification" OR "Idiopathic obliterative arteriopathy" OR "Infantile arteriosclerosis" OR "Occlusive infantile arteriopathy" OR "generalised arterial calcification of infancy" OR "generalised arterial calcification of the infancy" OR "Arterial calcification of infancy"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; 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 2026-07-27T00:46:28.504Z