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ORPHA:18

Distal renal tubular acidosis

low confidenceDisorder

Also known as: Classic RTA · Familial distal primary acidosis · Renal tubular acidosis type 1 · dRTA

Publications

3,069

Trials

2

Interventional, condition-specific

Researchers

1,028

Distinct authors in sample

Gene link

ATP6V1C2

Limited

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic or acquired renal tubular disease characterized by hyperchloremic . Primary distal renal tubular (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.

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 (5)

Primary Distal Renal Tubular Acidosis · classic RTA · distal renal tubular acidosis (disease) · familial distal primary acidosis · renal tubular acidosis type 1

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — ATP6V1C2

  2. LiteraturePresent

    3,069 matched papers (1,595 in last 10 years) Source

  3. Phenotype characterisedPresent

    107 HPO annotations (e.g. Distal renal tubular acidosis; Hypercalciuria; Failure to thrive) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. tripotassium citrate monohydrate;potassium hydrogen carbonate 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?

Possibly — only limited evidence so far for ATP6V1C2.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

107

Associated phenotypes · MONDO:0015827

  • Distal renal tubular acidosis
  • Hypercalciuria
  • Failure to thrive
  • Nephrocalcinosis

Showing 4 of 107 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA tripotassium citrate monohydrate;potassium hydrogen carbonateTreatment of distal renal tubular acidosis · 20/06/2017 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

3,069

3,069 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.

3,069 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).

1,595 in the last 10 years · low confidence

Phrase hits: 2,671 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,028

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
    Boyer O6 papers · 2026

    Necker Hospital, Paris, France.

    Papers in Europe PMC
  2. 02
    Chelangarimiyandoab F6 papers · 2026

    Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.

    Papers in Europe PMC
  3. 03
    Cordat E6 papers · 2026

    Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.

    Papers in Europe PMC
  4. 04
    Essuman G6 papers · 2026

    Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.

    Papers in Europe PMC
  5. 05
    Guo W5 papers · 2025

    School of Medicine,Nankai University, Tianjin, 300071, China.

    Papers in Europe PMC
  6. 06
    Krishnamurthy S5 papers · 2026

    Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India. drsriramk@yahoo.com.

    Papers in Europe PMC
  7. 07
    Liu Z5 papers · 2026

    Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.

    Papers in Europe PMC
  8. 08
    Ariceta G4 papers · 2026

    Hospital Universitario Vall d'Hebron, Barcelona, Spain.

    Papers in Europe PMC
  9. 09
    Bertholet-Thomas A4 papers · 2026

    Centre de référence Maladies rénales rares, Bron, France.

    Papers in Europe PMC
  10. 10
    Bhatt GC4 papers · 2026

    Department of Pediatrics, All India Institute of Medical Sciences, Bhopal, India.

    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 · last trial check 28 July 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).

low 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

2 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 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 Distal renal tubular acidosis — 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.

("Distal renal tubular acidosis" OR "Classic RTA" OR "Familial distal primary acidosis" OR "Renal tubular acidosis type 1" OR "Primary Distal Renal Tubular Acidosis" OR "distal renal tubular acidosis (disease)") OR ("ATP6V1C2" OR "ATP6V1C2 syndrome" OR "ATP6V1C2-related")

Run this search on Europe PMC

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

"Distal renal tubular acidosis" OR "Classic RTA" OR "Familial distal primary acidosis" OR "Renal tubular acidosis type 1" OR "Primary Distal Renal Tubular Acidosis" OR "distal renal tubular acidosis (disease)"

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 · 2 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

Synonyms dropped by stoplist: dRTA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3069) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:07:02.797Z