RARE DISEASERESEARCH ATLAS

ORPHA:2197

Idiopathic hypercalciuria

low confidenceDisorder

Publications

1,530

Trials

6

Interventional, condition-specific

Researchers

1,063

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.

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

Orphanet entry

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,530 matched papers (451 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

    6 matched on ClinicalTrials.gov

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)

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?

1,530

1,530 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,530 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).

451 in the last 10 years · low confidence

Phrase hits: 1,530 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,063

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
    Alexander RT4 papers · 2025

    Membrane Protein Disease Research Group, University of Alberta, Edmonton, Alberta, Canada.

    Papers in Europe PMC
  2. 02
    Curry JN4 papers · 2024

    Department of Molecular and Integrative Physiology and.

    Papers in Europe PMC
  3. 03
    García Nieto VM4 papers · 2024

    Sección de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, España. Electronic address: vgarcianieto@gmail.com.

    Papers in Europe PMC
  4. 04
    Spivacow FR4 papers · 2023

    Department of Nephrology, Instituto de Investigaciones Metabólicas, Buenos Aires 1012, Argentina.

    Papers in Europe PMC
  5. 05
    Wang X4 papers · 2026

    Department of Urology, Beijing Friendship Hospital, Capital Medical University, China.

    Papers in Europe PMC
  6. 06
    Chiodini I3 papers · 2026

    Unit for Bone Metabolism Disease and Diabetes and Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano IRCCS, Via Magnasco 2, 20149, Milan, Italy. iacopo.chiodini@unimi.it.

    Papers in Europe PMC
  7. 07
    Das S3 papers · 2026

    Pediatrics, All India Institute of Medical Sciences, Deoghar, Deoghar, IND.

    Papers in Europe PMC
  8. 08
    Gomes SA3 papers · 2025

    Faculdade de Medicina da Universidade de São Paulo, Laboratório de Nefrologia Celular, Genética e Molecular, Departamento de Clínica Médica, São Paulo, Brasil.

    Papers in Europe PMC
  9. 09
    Heilberg IP3 papers · 2026

    Nutrition Post Graduation Program, Universidade Federal de São Paulo, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  10. 10
    Liu Y3 papers · 2025

    Guangdong Provincial Key Laboratory of Urological Diseases, Department of Urology, Guangdong Engineering Research Center of Urinary Minimally Invasive Surgery Robot and Intelligent Equipment, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

low confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

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.

"Idiopathic hypercalciuria"

Run this search on Europe PMC

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

"Idiopathic hypercalciuria"

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: 6 interventional · 1 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 (1530) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:25:58.852Z