ORPHA:93608
Autosomal dominant distal renal tubular acidosis
Also known as: AD dRTA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
46
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
283
Distinct authors in sample
Gene link
ATP6V1B1, SLC4A1, SLC4A3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of distal renal tubular characterized by hyperchloremic often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.
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.
Additional Mondo synonyms (6)
DRTA1 · RTA, classic type · RTA, distal type, autosomal dominant · RTA, gradient type · distal renal tubular acidosis (disease), autosomal dominant · renal tubular acidosis, distal 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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ATP6V1B1, SLC4A1, SLC4A3
- LiteraturePresent
46 matched papers (18 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 distal 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?
Yes — we know a specific gene responsible (ATP6V1B1, SLC4A1, SLC4A3).
GenCC classification: Definitive.
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?
46
46 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
46 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).
18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 0
Who's working on it?
283
Distinct author names in 46 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.
- 01Yenchitsomanus PT4 papers · 2005
Division of Medical Molecular Biology and BIOTEC-Medical Biotechnology Unit, Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Papers in Europe PMC - 02Alper SL3 papers · 2010Papers in Europe PMC
- 03Vasuvattakul S3 papers · 2010
Renal Division, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Papers in Europe PMC - 04Chen AP2 papers · 2014Papers in Europe PMC
- 05Cordat E2 papers · 2005Papers in Europe PMC
- 06Cuthbert AW2 papers · 2012Papers in Europe PMC
- 07Devonald MA2 papers · 2004
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital Box 139, Cambridge CB2 2XY, UK.
Papers in Europe PMC - 08Dong J2 papers · 2023
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.
Papers in Europe PMC - 09Emma F2 papers · 2021
Division of Nephrology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Papers in Europe PMC - 10Iijima K2 papers · 2020
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe, Hyogo, 650-0017, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for distal 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.
high 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 distal renal tubular acidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: distal 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.
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.
"Autosomal dominant distal renal tubular acidosis" OR "AD dRTA" OR "DRTA1" OR "RTA, classic type" OR "RTA, distal type, autosomal dominant" OR "RTA, gradient type" OR "distal renal tubular acidosis (disease), autosomal dominant" OR "renal tubular acidosis, distal 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant distal renal tubular acidosis" OR "AD dRTA" OR "DRTA1" OR "RTA, classic type" OR "RTA, distal type, autosomal dominant" OR "RTA, gradient type" OR "distal renal tubular acidosis (disease), autosomal dominant" OR "renal tubular acidosis, distal 1" OR "ATP6V1B1" OR "SLC4A1" OR "SLC4A3" OR "inherited distal renal tubular acidosis" OR "autosomal genetic disease"
Recall-expansion terms: ATP6V1B1, SLC4A1, SLC4A3, inherited distal renal tubular acidosis, autosomal genetic disease
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"distal renal tubular acidosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:28:24.964Z