ORPHA:47159
Proximal renal tubular acidosis
Also known as: Renal tubular acidosis type 2 · pRTA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
801
88.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,020
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008369
- OMIM:179830
- UMLS:C0268435
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
801 matched papers (402 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 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)
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?
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=5449) is 41.
801 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).
402 in the last 10 years · medium confidence · 88.1th percentile (publications denominator)
Phrase hits: 801 · MeSH hits: 0
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.
- 01Kumar A4 papers · 2026
Department of Internal Medicine, University of Tennessee Health Science Center, Memphis, TN, USA.
Papers in Europe PMC - 02Parker 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 - 03Fujigaki Y3 papers · 2026
Department of Internal Medicine, Teikyo University School of Medicine, Japan.
Papers in Europe PMC - 04Houillier P3 papers · 2026
Université Paris Cité, Sorbonne Université, Centre de Recherche des Cordeliers, INSERM, CNRS-ERL8228, F-75006 Paris, France.
Papers in Europe PMC - 05Kumagai N3 papers · 2024
Department of Pediatrics, Fujita Health University School of Medicine.
Papers in Europe PMC - 06Liu Y3 papers · 2024
Department of Nephrology, Tianjin Children's Hospital, Tianjin 300134, China.
Papers in Europe PMC - 07Marshall 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 - 08Shibata S3 papers · 2026
Department of Internal Medicine, Teikyo University School of Medicine, Japan.
Papers in Europe PMC - 09Wang W3 papers · 2026
Department of Nephrology, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, China.
Papers in Europe PMC - 10Yamazaki 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 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.
medium 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.
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
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
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.
"Proximal renal tubular acidosis" OR "Renal tubular acidosis type 2" OR "Type 2 RTA" OR "Type 2 renal tubular acidosis"
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" OR "acidosis disorder" OR "renal tubular transport disease" OR "renal tubule disorder"
Recall-expansion terms: acidosis disorder, renal tubular transport disease, renal tubule disorder
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: suspect — strategies attempted: phrase, recall-expansion; 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