RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:306661

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

medium confidenceSubtype of disorder

Also known as: Hypercalcemic tumoral calcinosis

Publications

204

71.7th percentile

Trials

14

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

FGF23

Strong

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — FGF23

  2. LiteraturePresent

    204 matched papers (135 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (1 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?

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

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?

204

204 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.

204 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).

135 in the last 10 years · medium confidence · 71.7th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 14 trials are registered for calcinosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).

medium confidence · 93.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

14 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

12 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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"

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" OR "FGF23"

Recall-expansion terms: FGF23

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 14 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"calcinosis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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

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