ORPHA:18
Distal renal tubular acidosis
Also known as: Classic RTA · Familial distal primary acidosis · Renal tubular acidosis type 1 · dRTA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,671
Trials
2
Interventional, condition-specific
Researchers
1,058
Distinct authors in sample
Gene link
ATP6V1C2
Limited
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015827
- UMLS:C1704380
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Limited — ATP6V1C2
- LiteraturePresent
2,671 matched papers (1,275 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 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)
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?
2,671
2,671 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.
2,671 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).
1,275 in the last 10 years · low confidence
Phrase hits: 2,671 · MeSH hits: 0
Who's working on it?
1,058
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.
- 01
- 02Chelangarimiyandoab F6 papers · 2026
Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.
Papers in Europe PMC - 03Cordat E6 papers · 2026
Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.
Papers in Europe PMC - 04Essuman G6 papers · 2026
Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.
Papers in Europe PMC - 05Gil-Peña H5 papers · 2023
Hospital Universitario Central de Asturias, Oviedo, Spain.
Papers in Europe PMC - 06Krishnamurthy 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 - 07Liu Z5 papers · 2026
Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Papers in Europe PMC - 08
- 09Bertholet-Thomas A4 papers · 2026
Centre de référence Maladies rénales rares, Bron, France.
Papers in Europe PMC - 10Bhatt 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th 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
- 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.
"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)"
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)" OR "ATP6V1C2"
Recall-expansion terms: ATP6V1C2
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: suspect — strategies attempted: phrase, recall-expansion; 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 (2671) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T12:07:02.797Z