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ORPHA:53715

Familial tumoral calcinosis

high confidenceDisorder

Publications

493

71.4th percentile

Trials

0

Interventional, condition-specific

Researchers

950

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    493 matched papers (242 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Achilles tendon calcification; Fatigue; Osteopenia) Source

  4. Animal modelPresent

    6 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 trialPartial

    None under the specific name; 14 for broader category calcinosis

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)

61

Associated phenotypes · MONDO:0018891

  • Achilles tendon calcification
  • Fatigue
  • Osteopenia
  • Headache
  • Elevated circulating calcitriol concentration

Showing 5 of 61 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

493

493 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=3967) is 59.

493 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).

242 in the last 10 years · high confidence · 71.4th percentile (publications denominator)

Phrase hits: 493 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

950

Distinct author names in 200 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.

  1. 01
    Collins MT12 papers · 2025

    Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Gafni RI10 papers · 2024

    Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  3. 03
    Ichikawa S9 papers · 2019

    Department of Medicine, Indiana University School of Medicine, 1120 West Michigan St, CL459, Indianapolis, IN, USA.

    Papers in Europe PMC
  4. 04
    Ten Hagen KG6 papers · 2024

    Developmental Glycobiology Section, Laboratory of Cell and Developmental Biology, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4370; Kelly.Tenhagen@nih.gov.

    Papers in Europe PMC
  5. 05
    Uitto J6 papers · 2022

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA

    Papers in Europe PMC
  6. 06
    Econs MJ5 papers · 2018

    Department of Medicine, Indiana University School of Medicine, 1120 West Michigan St, CL459, Indianapolis, IN, USA.

    Papers in Europe PMC
  7. 07
    Hartley IR5 papers · 2024

    Skeletal Disorders and Mineral Homeostasis Section, National Institutes of Dental and Craniofacial Research. National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  8. 08
    Li Q5 papers · 2022

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

    Papers in Europe PMC
  9. 09
    Boyce AM4 papers · 2024

    Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA Bone Health Program, Division of Orthopedics and Sports Medicine, Children's National Medical Center, Washington, DC, USA Division of Endocrinology and Diabetes, Children's National Medical Center, Washington, DC, USA.

    Papers in Europe PMC
  10. 10
    Gray AK4 papers · 2019

    Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

    Papers in Europe PMC

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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 14 trials are registered for calcinosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

14 interventional trials matched calcinosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: calcinosis

14

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches 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.

Recruiting or not-yet-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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Familial tumoral calcinosis — 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.

"Familial tumoral calcinosis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial tumoral calcinosis"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"calcinosis"

Query health: ok — strategies attempted: phrase; with hits: phrase

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 2026-07-27T00:54:26.750Z