RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:47159

Proximal renal tubular acidosis

medium confidenceDisorder

Also known as: Renal tubular acidosis type 2 · pRTA

Publications

801

80.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,020

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic .

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)

Type 2 RTA · Type 2 renal tubular acidosis · renal tubular acidosis 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    801 matched papers (402 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Growth delay; Glaucoma; Cataract) 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 trialPartial

    None under the specific name; 2 for broader category renal tubular acidosis

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)

57

Associated phenotypes · MONDO:0008369

  • Growth delay
  • Glaucoma
  • Cataract
  • Band keratopathy
  • Mild postnatal growth retardation

Showing 5 of 57 — 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?

801

801 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.

801 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).

402 in the last 10 years · medium confidence · 80.8th percentile (publications denominator)

Phrase hits: 801 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,020

Distinct author names in 200 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
    Kumar A4 papers · 2026

    Department of Internal Medicine, University of Tennessee Health Science Center, Memphis, TN, USA.

    Papers in Europe PMC
  2. 02
    Parker MD4 papers · 2026

    Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo: The State University of New York, Buffalo, New York, NY, USA. parker28@buffalo.edu.

    Papers in Europe PMC
  3. 03
    Fujigaki Y3 papers · 2026

    Department of Internal Medicine, Teikyo University School of Medicine, Japan.

    Papers in Europe PMC
  4. 04
    Houillier P3 papers · 2026

    Université Paris Cité, Sorbonne Université, Centre de Recherche des Cordeliers, INSERM, CNRS-ERL8228, F-75006 Paris, France.

    Papers in Europe PMC
  5. 05
    Kumagai N3 papers · 2024

    Department of Pediatrics, Fujita Health University School of Medicine.

    Papers in Europe PMC
  6. 06
    Liu Y3 papers · 2024

    Department of Nephrology, Tianjin Children's Hospital, Tianjin 300134, China.

    Papers in Europe PMC
  7. 07
    Marshall A3 papers · 2024

    Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo: The State University of New York, Buffalo, New York, NY, USA.

    Papers in Europe PMC
  8. 08
    Shibata S3 papers · 2026

    Department of Internal Medicine, Teikyo University School of Medicine, Japan.

    Papers in Europe PMC
  9. 09
    Wang W3 papers · 2026

    Department of Nephrology, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, China.

    Papers in Europe PMC
  10. 10
    Yamazaki O3 papers · 2026

    Department of Internal Medicine, Teikyo University School of Medicine, Japan.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 2 trials are registered for renal tubular acidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

2 interventional trials matched renal tubular acidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: renal tubular acidosis

2

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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.

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 Proximal 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.

"Proximal renal tubular acidosis" OR "Renal tubular acidosis type 2" OR "Type 2 RTA" OR "Type 2 renal tubular acidosis"

Run this search on Europe PMC

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

"Proximal renal tubular acidosis" OR "Renal tubular acidosis type 2" OR "Type 2 RTA" OR "Type 2 renal tubular acidosis"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"renal tubular acidosis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: pRTA

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

Ingested 2026-07-27T00:12:58.973Z