RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:93623

Dent disease type 2

low confidenceSubtype of disorder

Publications

1,744

Trials

0

Interventional, condition-specific

Researchers

474

Distinct authors in sample

Gene link

OCRL

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — OCRL

  2. LiteraturePresent

    1,744 matched papers (1,116 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Umbilical hernia; Nephrocalcinosis; Elevated circulating creatine kinase activity) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

15

Associated phenotypes · MONDO:0010359

  • Umbilical hernia
  • Nephrocalcinosis
  • Elevated circulating creatine kinase activity
  • Low-molecular-weight proteinuria
  • Elevated circulating aspartate aminotransferase concentration

Showing 5 of 15 — 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)

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?

1,744

1,744 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.

1,744 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).

1,116 in the last 10 years · low confidence

Phrase hits: 84 · MeSH hits: 3

Open Europe PMC search

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.

  1. 01
    Anglani 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
  2. 02
    Del 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
  3. 03
    Gianesello 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
  4. 04
    Priante 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
  5. 05
    Ceol 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
  6. 06
    Harris 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
  7. 07
    Lieske 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
  8. 08
    Ludwig M3 papers · 2020

    Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  9. 09
    Zhang H3 papers · 2022

    Department of Nephrology, Children's Hospital Affiliated to Shandong University, Jinan, China.

    Papers in Europe PMC
  10. 10
    Bockenhauer 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30

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 (6)

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 Dent disease type 2 — 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.

("Dent disease type 2" OR "OCRL Dent disease" OR "dent disease 2, X-linked recessive" OR "nephrolithiasis type 2") OR (MESH:"Dent Disease 2") OR ("OCRL" OR "OCRL syndrome" OR "OCRL-related")

Run this search on Europe PMC

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"

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

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (1744) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:29:54.203Z