RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:306661

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

low confidenceSubtype of disorder

Also known as: Hypercalcemic tumoral calcinosis

Publications

12,631

Trials

0

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

FGF23

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

HFTC · familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome · hypercalcemic tumoral calcinosis · hyperphosphatemic familial tumoral calcinosis

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 identifiedPresent

    Strong — FGF23

  2. LiteraturePresent

    12,631 matched papers (9,177 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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?

Yes — we know a specific gene responsible (FGF23).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

12,631

12,631 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,631 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).

9,177 in the last 10 years · low confidence

Phrase hits: 204 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,057

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
    White KE14 papers · 2019

    Department of Medical and Molecular Genetics, Department of Medicine, Indiana University School of Medicine, 975 West Walnut St., IB130, Indianapolis, IN, 46202, USA, kenewhit@iupui.edu.

    Papers in Europe PMC
  2. 02
    Collins MT13 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
    Gafni RI12 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
  4. 04
    Sprecher E11 papers · 2011

    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. elisp@tasmc.health.gov.il

    Papers in Europe PMC
  5. 05
    Econs MJ9 papers · 2018

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

    Papers in Europe PMC
  6. 06
    Ichikawa S9 papers · 2018

    Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.

    Papers in Europe PMC
  7. 07
    Uitto J9 papers · 2022

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, 233 S. 10th Street, Philadelphia, PA, United States. Electronic address: Jouni.Uitto@Jefferson.edu.

    Papers in Europe PMC
  8. 08
    Ten Hagen KG7 papers · 2024

    Developmental Glycobiology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4370, USA.

    Papers in Europe PMC
  9. 09
    Clinkenbeard EL6 papers · 2019

    Division of Molecular Genetics and Gene Therapy, Department of Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis, Indiana.

    Papers in Europe PMC
  10. 10
    Li Q6 papers · 2022

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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.

low 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

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 2026-07-30

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 hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome — 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 hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome" OR "Hypercalcemic tumoral calcinosis" OR "hyperphosphatemic familial tumoral calcinosis") OR ("FGF23" OR "FGF23 syndrome" OR "FGF23-related")

Run this search on Europe PMC

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

"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome" OR "Hypercalcemic tumoral calcinosis" OR "hyperphosphatemic familial tumoral calcinosis"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: HFTC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (12631) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T12:49:09.784Z