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ORPHA:402041

Autosomal recessive distal renal tubular acidosis

high confidenceSubtype of disorder

Also known as: AR dRTA · Autosomal recessive distal RTA

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

85

47.5th percentile

Trials

0

Interventional, condition-specific

Researchers

547

Distinct authors in sample

Gene link

FOXI1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of proximal renal tubular (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.

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)

autosomal recessive distal RTA · autosomal recessive distal renal tubular acidosis (disease) · distal renal tubular acidosis (disease), autosomal recessive

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 identifiedPresent

    Strong — FOXI1

  2. LiteraturePresent

    85 matched papers (36 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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 (FOXI1).

GenCC classification: Strong.

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?

85

85 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.

85 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).

36 in the last 10 years · high confidence · 47.5th percentile (publications denominator)

Phrase hits: 85 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

547

Distinct author names in 85 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
    Yenchitsomanus PT9 papers · 2022

    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
  2. 02
    Karet FE6 papers · 2011

    Howard Hughes Medical Institute, Departments of Medicine and Genetics, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06510, USA.

    Papers in Europe PMC
  3. 03
    Vasuvattakul S6 papers · 2010

    Renal Division, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

    Papers in Europe PMC
  4. 04
    Sawasdee N5 papers · 2022

    Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.

    Papers in Europe PMC
  5. 05
    Malasit P4 papers · 2004
    Papers in Europe PMC
  6. 06
    Nimmannit S4 papers · 2004
    Papers in Europe PMC
  7. 07
    Rungroj N4 papers · 2022

    Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

    Papers in Europe PMC
  8. 08
    Bakkaloglu A3 papers · 2002
    Papers in Europe PMC
  9. 09
    Emma F3 papers · 2025

    Division of Nephrology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Fuster DG3 papers · 2024

    Swiss National Centres of Competence in Research Kidney.CH and TransCure and Divisions of Nephrology, Hypertension and Clinical Pharmacology, Clinical Research, Bern University Hospital, University of Bern, Switzerland; and Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland; Daniel.Fuster@ibmm.unibe.ch.

    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 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.

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

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 2026-07-26

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.

"Autosomal recessive distal renal tubular acidosis" OR "AR dRTA" OR "Autosomal recessive distal RTA" OR "autosomal recessive distal renal tubular acidosis (disease)" OR "distal renal tubular acidosis (disease), autosomal recessive"

Run this search on Europe PMC

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

"Autosomal recessive distal renal tubular acidosis" OR "AR dRTA" OR "Autosomal recessive distal RTA" OR "autosomal recessive distal renal tubular acidosis (disease)" OR "distal renal tubular acidosis (disease), autosomal recessive" OR "FOXI1" OR "inherited distal renal tubular acidosis" OR "autosomal genetic disease"

Recall-expansion terms: FOXI1, inherited distal renal tubular acidosis, autosomal genetic disease

Study-type breakdown: 0 interventional · 1 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 2026-07-27T15:31:12.950Z