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ORPHA:402041

Autosomal recessive distal renal tubular acidosis

low confidenceSubtype of disorder

Also known as: AR dRTA · Autosomal recessive distal RTA

Publications

1,478

Trials

0

Interventional, condition-specific

Researchers

547

Distinct authors in sample

Gene link

FOXI1

Strong

Readiness

4/6

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.”

4/6 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

    1,478 matched papers (989 in last 10 years) Source

  3. Phenotype characterisedPresent

    59 HPO annotations (e.g. Distal renal tubular acidosis; Hypercalciuria; Failure to thrive) 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 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)

59

Associated phenotypes · MONDO:0018440

  • Distal renal tubular acidosis
  • Hypercalciuria
  • Failure to thrive
  • Muscle weakness
  • Constipation

Showing 5 of 59 — 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?

1,478

1,478 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.

1,478 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).

989 in the last 10 years · low confidence

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 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.

low 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 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Autosomal recessive distal 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.

("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 "FOXI1 syndrome" OR "FOXI1-related")

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (1478) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T15:31:12.950Z