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ORPHA:417

Neonatal severe primary hyperparathyroidism

high confidenceDisorder

Also known as: NSHPT

Publications

417

79.8th percentile

Trials

1

Interventional, condition-specific

Researchers

955

Distinct authors in sample

Gene link

CASR

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

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.

Additional Mondo synonyms (1)

hyperparathyroidism, neonatal

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

    Definitive — CASR

  2. LiteraturePresent

    417 matched papers (216 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

    1 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 (CASR).

GenCC classification: Definitive.

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?

417

417 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.

417 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).

216 in the last 10 years · high confidence · 79.8th percentile (publications denominator)

Phrase hits: 417 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

955

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
    Thakker RV15 papers · 2024

    Academic Endocrine UnitRadcliffe Department of Medicine, University of Oxford, Oxford, UK rajesh.thakker@ndm.ox.ac.uk.

    Papers in Europe PMC
  2. 02
    Hannan FM11 papers · 2022

    Academic Endocrine UnitRadcliffe Department of Medicine, University of Oxford, Oxford, UK Department of Musculoskeletal BiologyInstitute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.

    Papers in Europe PMC
  3. 03
    Levine MA7 papers · 2020

    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, and the University of Pennsylvania Perelman School of Medicine. Electronic address: levinem@chop.edu.

    Papers in Europe PMC
  4. 04
    Marx SJ7 papers · 2020

    Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  5. 05
    Brandi ML6 papers · 2025

    Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy. marialuisa.brandi@unifi.it.

    Papers in Europe PMC
  6. 06
    Brown EM4 papers · 2016

    Center for Diagnostics and Therapeutics, Georgia State UniversityAtlanta, GA, USA; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's HospitalBoston, MA, USA.

    Papers in Europe PMC
  7. 07
    Gorvin CM4 papers · 2022

    Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.

    Papers in Europe PMC
  8. 08
    Palermo A4 papers · 2023

    Unit of Endocrinology and Diabetes, University Campus Bio-Medico, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Simonds WF4 papers · 2022

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  10. 10
    Al-Ashwal A3 papers · 2024

    Diabetes and Endocrinology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 55 trials are registered for primary hyperparathyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: primary hyperparathyroidism

55

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

3 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

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.

"Neonatal severe primary hyperparathyroidism" OR "NSHPT" OR "hyperparathyroidism, neonatal"

Run this search on Europe PMC

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

"Neonatal severe primary hyperparathyroidism" OR "NSHPT" OR "hyperparathyroidism, neonatal" OR "CASR"

Recall-expansion terms: CASR

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: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"primary hyperparathyroidism"

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

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 2026-07-26T13:47:29.990Z