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ORPHA:1652

Dent disease

medium confidenceDisorder

Also known as: Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis · Renal Fanconi syndrome with nephrocalcinosis and renal stones · X-linked recessive hypercalciuric hypophosphatemic rickets · X-linked recessive nephrolithiasis

Publications

873

84.4th percentile

Trials

2

Interventional, condition-specific

Researchers

1,116

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.

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 (3)

X-linked recessive hypophosphatemic rickets · low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis · renal Fanconi syndrome with nephrocalcinosis and renal stones

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.”

4/6 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

    873 matched papers (575 in last 10 years) Source

  3. Phenotype characterisedPresent

    86 HPO annotations (e.g. Renal insufficiency; Renal tubular atrophy; Proteinuria) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    2 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)

86

Associated phenotypes · MONDO:0015612

  • Renal insufficiency
  • Renal tubular atrophy
  • Proteinuria
  • Enlargement of the wrists
  • Renal hypophosphatemia

Showing 5 of 86 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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

2

Drugs / clinical candidates · MONDO_0015612

CTD chemicals (MyDisease.info)

1 associated chemical · 3 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Hydrochlorothiazide · therapeutic

Pathways: Stimuli-sensing channels; Transmembrane transport of small molecules; Ion channel transport

MyDisease.info · MONDO:0015612

Literature

Is anyone studying this?

873

873 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.

873 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).

575 in the last 10 years · medium confidence · 84.4th percentile (publications denominator)

Phrase hits: 873 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,116

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
    Anglani F11 papers · 2026

    Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.

    Papers in Europe PMC
  2. 02
    Nozu K10 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  3. 03
    Sakakibara N8 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  4. 04
    Del Prete D7 papers · 2026

    Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.

    Papers in Europe PMC
  5. 05
    Horinouchi T7 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  6. 06
    Lieske JC7 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  7. 07
    Nagano C7 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan. china@med.kobe-u.ac.jp.

    Papers in Europe PMC
  8. 08
    Yamamura T7 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  9. 09
    Ceol M6 papers · 2026

    Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.

    Papers in Europe PMC
  10. 10
    Ishimori S6 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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

8 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · 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 (11)

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 — 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" OR "Dent syndrome" OR "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis" OR "Renal Fanconi syndrome with nephrocalcinosis and renal stones" OR "X-linked recessive hypercalciuric hypophosphatemic rickets" OR "X-linked recessive nephrolithiasis" OR "X-linked recessive hypophosphatemic rickets"

Run this search on Europe PMC

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

"Dent disease" OR "Dent syndrome" OR "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis" OR "Renal Fanconi syndrome with nephrocalcinosis and renal stones" OR "X-linked recessive hypercalciuric hypophosphatemic rickets" OR "X-linked recessive nephrolithiasis" OR "X-linked recessive hypophosphatemic rickets"

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: 2 interventional · 8 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:51:56.445Z