ORPHA:93623
Dent disease type 2
Publications
86
62.1th percentile
Trials
0
Interventional, condition-specific
Researchers
474
Distinct authors in sample
Gene link
OCRL
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010359
- MeSH:C564487
- OMIM:300555
- UMLS:C1845167
Additional Mondo synonyms (4)
Dent disease caused by mutation in OCRL · OCRL Dent disease · dent disease 2, X-linked recessive · nephrolithiasis type 2
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — OCRL
- LiteraturePresent
86 matched papers (78 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (OCRL).
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?
86
86 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.
86 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).
78 in the last 10 years · high confidence · 62.1th percentile (publications denominator)
Phrase hits: 84 · MeSH hits: 3
Who's working on it?
474
Distinct author names in 86 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Anglani F5 papers · 2024
Laboratory of Histomorphology and Molecular Biology of the Kidney, Clinical Nephrology, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Papers in Europe PMC - 02Del Prete D4 papers · 2021
Laboratory of Histomorphology and Molecular Biology of the Kidney, Clinical Nephrology, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Papers in Europe PMC - 03Gianesello L4 papers · 2021
Laboratory of Histomorphology and Molecular Biology of the Kidney, Clinical Nephrology, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Papers in Europe PMC - 04Priante G4 papers · 2024
Laboratory of Histomorphology and Molecular Biology of the Kidney, Clinical Nephrology, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Papers in Europe PMC - 05Ceol M3 papers · 2021
Laboratory of Histomorphology and Molecular Biology of the Kidney, Clinical Nephrology, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Papers in Europe PMC - 06Harris PC3 papers · 2021
Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minnesota Biochemistry and Molecular Biology, Mayo Clinic College of Medicine, Rochester, Minnesota.
Papers in Europe PMC - 07Lieske JC3 papers · 2021
O'Brien Urology Research Center, Mayo Clinic College of Medicine, Rochester, Minnesota Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minnesota Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota.
Papers in Europe PMC - 08Ludwig M3 papers · 2020
Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 09Zhang H3 papers · 2022
Department of Nephrology, Children's Hospital Affiliated to Shandong University, Jinan, China.
Papers in Europe PMC - 10Bockenhauer D2 papers · 2021
Department of Renal Medicine, University College London, London, United Kingdom.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Dent disease type 2" OR "OCRL Dent disease" OR "dent disease 2, X-linked recessive" OR "nephrolithiasis type 2"
MeSH descriptor terms unioned into the query: Dent Disease 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dent disease type 2" OR "OCRL Dent disease" OR "dent disease 2, X-linked recessive" OR "nephrolithiasis type 2" OR "Dent Disease 2" OR "OCRL"
Recall-expansion terms: OCRL
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: Dent disease caused by mutation in OCRL
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 2026-07-27T04:29:54.203Z