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ORPHA:51608

Generalized arterial calcification of infancy

high confidenceDisorder

Also known as: Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy · Infantile arteriosclerosis · Occlusive infantile arteriopathy

Publications

677

81.4th percentile

Trials

6

Interventional, condition-specific

Researchers

1,046

Distinct authors in sample

Gene link

—

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    677 matched papers (420 in last 10 years) Source

  3. Phenotype characterisedPresent

    92 HPO annotations (e.g. Hyperphosphaturia; Myocardial calcification; Encephalomalacia) Source

  4. Animal modelPresent

    8 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

92

Associated phenotypes · MONDO:0018870

  • Hyperphosphaturia
  • Myocardial calcification
  • Encephalomalacia
  • Arterial calcification
  • Generalized arterial calcification

Showing 5 of 92 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical · 15 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Vitamin K · therapeutic

Pathways: Purine metabolism; Pyrimidine metabolism; Starch and sucrose metabolism; Riboflavin metabolism; Nicotinate and nicotinamide metabolism; Pantothenate and CoA biosynthesis; Metabolic pathways; ABC transporters

MyDisease.info · MONDO:0018870

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=3967) is 59.

677 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

420 in the last 10 years · high confidence · 81.4th percentile (publications denominator)

Phrase hits: 677 · MeSH hits: 6

Open Europe PMC search

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.

  1. 01
    Li 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
  2. 02
    Ferreira CR16 papers · 2025

    7 National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, USA.

    Papers in Europe PMC
  3. 03
    Rutsch 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
  4. 04
    Uitto 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
  5. 05
    Nitschke Y10 papers · 2025

    Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer-Campus 1, D-48149, Münster, Germany.

    Papers in Europe PMC
  6. 06
    Braddock DT8 papers · 2025

    Department of Pathology, Yale University, New Haven, CT, USA.

    Papers in Europe PMC
  7. 07
    Mughal MZ8 papers · 2026

    Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK.

    Papers in Europe PMC
  8. 08
    Sabbagh Y8 papers · 2025

    Research and Development, Inozyme Pharma, Boston, MA 02210, United States.

    Papers in Europe PMC
  9. 09
    Gafni 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
  10. 10
    Ziegler 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 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

high confidence · 90.1th 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.

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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Generalized arterial calcification of infancy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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