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ORPHA:143

Parathyroid carcinoma

low confidenceDisorder

Publications

5,823

Trials

7

Interventional, condition-specific

Researchers

1,033

Distinct authors in sample

Gene link

CDC73

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (12)

adenocarcinoma of parathyroid · adenocarcinoma of parathyroid gland · adenocarcinoma of the parathyroid · adenocarcinoma of the parathyroid gland · carcinoma of parathyroid · carcinoma of parathyroid gland · carcinoma of the parathyroid · carcinoma of the parathyroid gland · parathyroid adenocarcinoma · parathyroid carcinoma · parathyroid gland adenocarcinoma · parathyroid gland carcinoma

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — CDC73

  2. LiteraturePresent

    5,823 matched papers (3,411 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Parathyroid carcinoma; Hyperparathyroidism; Hypercalcemia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. cinacalcet Source

  6. Interventional trialPresent

    7 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?

Yes — we know a specific gene responsible (CDC73).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0012004

  • Parathyroid carcinoma
  • Hyperparathyroidism
  • Hypercalcemia
  • Fibroma
  • Pancreatitis

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA cinacalcet (Sensipar)Parathyroid Carcinoma · 2003-05-12

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0012004

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,823

5,823 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.

5,823 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).

3,411 in the last 10 years · low confidence

Phrase hits: 4,020 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,033

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
    Hu Y9 papers · 2026

    Department of General Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  2. 02
    Chen T7 papers · 2026

    Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  3. 03
    Xiao J7 papers · 2026

    Department of General Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  4. 04
    Zheng Q7 papers · 2026

    Department of General Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  5. 05
    Cetani F6 papers · 2026

    Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy.

    Papers in Europe PMC
  6. 06
    Cui M6 papers · 2026

    Department of General Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  7. 07
    Liao Q6 papers · 2026

    Department of General Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China. lqpumc@126.com.

    Papers in Europe PMC
  8. 08
    Marcocci C5 papers · 2026

    Unit of Endocrinology, University Hospital of Pisa, 56124 Pisa, Italy.

    Papers in Europe PMC
  9. 09
    Torregrossa L5 papers · 2026

    Department of Surgical, Medical, Molecular Pathology and Clinical Area, University Hospital of Pisa, Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Wei B5 papers · 2026

    Department of Thyroid and Neck Surgery, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Parathyroid carcinoma — 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.

("Parathyroid carcinoma" OR "adenocarcinoma of parathyroid" OR "adenocarcinoma of the parathyroid" OR "adenocarcinoma of parathyroid gland" OR "adenocarcinoma of the parathyroid gland" OR "carcinoma of parathyroid" OR "carcinoma of the parathyroid" OR "carcinoma of parathyroid gland" OR "carcinoma of the parathyroid gland" OR "parathyroid adenocarcinoma" OR "parathyroid gland adenocarcinoma" OR "parathyroid gland carcinoma") OR ("CDC73" OR "CDC73 syndrome" OR "CDC73-related")

Run this search on Europe PMC

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

"Parathyroid carcinoma" OR "adenocarcinoma of parathyroid" OR "adenocarcinoma of the parathyroid" OR "adenocarcinoma of parathyroid gland" OR "adenocarcinoma of the parathyroid gland" OR "carcinoma of parathyroid" OR "carcinoma of the parathyroid" OR "carcinoma of parathyroid gland" OR "carcinoma of the parathyroid gland" OR "parathyroid adenocarcinoma" OR "parathyroid gland adenocarcinoma" OR "parathyroid gland carcinoma"

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

Study-type breakdown: 7 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (5823) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:37:53.152Z