ORPHA:2197
Idiopathic hypercalciuria
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.
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,530 matched papers (451 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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)
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?
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=3967) is 59.
1,530 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).
451 in the last 10 years · low confidence
Phrase hits: 1,530 · MeSH hits: 0
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.
- 01Alexander RT4 papers · 2025
Membrane Protein Disease Research Group, University of Alberta, Edmonton, Alberta, Canada.
Papers in Europe PMC - 02
- 03García 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 - 04Spivacow FR4 papers · 2023
Department of Nephrology, Instituto de Investigaciones Metabólicas, Buenos Aires 1012, Argentina.
Papers in Europe PMC - 05Wang X4 papers · 2026
Department of Urology, Beijing Friendship Hospital, Capital Medical University, China.
Papers in Europe PMC - 06Chiodini 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 - 07Das S3 papers · 2026
Pediatrics, All India Institute of Medical Sciences, Deoghar, Deoghar, IND.
Papers in Europe PMC - 08Gomes 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 - 09Heilberg IP3 papers · 2026
Nutrition Post Graduation Program, Universidade Federal de São Paulo, São Paulo 04023-062, Brazil.
Papers in Europe PMC - 10Liu 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 11 September 2026
6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).
low confidence · 90.1th 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.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 Idiopathic hypercalciuria — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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"
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