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ORPHA:93607

Autosomal recessive proximal renal tubular acidosis

low confidenceSubtype of disorder

Also known as: AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

Publications

2,290

Trials

0

Interventional, condition-specific

Researchers

117

Distinct authors in sample

Gene link

SLC4A4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of proximal renal tubular characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic , usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.

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)

proximal renal tubular acidosis with ocular abnormalities and intellectual disability · proximal renal tubular acidosis, autosomal recessive · renal tubular acidosis, proximal, with ocular abnormalities

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — SLC4A4

  2. LiteraturePresent

    2,290 matched papers (1,591 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Impaired renal tubular reabsorption of bicarbonate; Glaucoma; Bicarbonate-wasting renal tubular acidosis) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (SLC4A4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0011422

  • Impaired renal tubular reabsorption of bicarbonate
  • Glaucoma
  • Bicarbonate-wasting renal tubular acidosis
  • Metabolic acidosis
  • Increased red cell osmotic resistance

Showing 5 of 16 — 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?

2,290

2,290 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.

2,290 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).

1,591 in the last 10 years · low confidence

Phrase hits: 25 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

117

Distinct author names in 25 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
    Kurtz I6 papers · 2013

    Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689; Brain Research Institute, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.

    Papers in Europe PMC
  2. 02
    Abuladze N5 papers · 2013

    Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.

    Papers in Europe PMC
  3. 03
    Azimov R5 papers · 2013

    Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.

    Papers in Europe PMC
  4. 04
    Kao L5 papers · 2013

    Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.

    Papers in Europe PMC
  5. 05
    Liu W5 papers · 2013

    Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.

    Papers in Europe PMC
  6. 06
    Newman D5 papers · 2013

    Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.

    Papers in Europe PMC
  7. 07
    Pushkin A4 papers · 2010
    Papers in Europe PMC
  8. 08
    Zhu Q4 papers · 2013

    Division of Nephrology, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1689, USA.

    Papers in Europe PMC
  9. 09
    Sassani P2 papers · 2008
    Papers in Europe PMC
  10. 10
    Wright JT2 papers · 2023

    Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina, Chapel Hill, NC, USA tim_wright@unc.edu.

    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.

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.

Broader category proximal renal tubular acidosis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: proximal renal tubular acidosis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. 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 proximal 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 proximal renal tubular acidosis" OR "AR pRTA" OR "Proximal renal tubular acidosis with ocular abnormalities and intellectual disability" OR "proximal renal tubular acidosis, autosomal recessive" OR "renal tubular acidosis, proximal, with ocular abnormalities") OR (MESH:"Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation") OR ("SLC4A4" OR "SLC4A4 syndrome" OR "SLC4A4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation

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

"Autosomal recessive proximal renal tubular acidosis" OR "AR pRTA" OR "Proximal renal tubular acidosis with ocular abnormalities and intellectual disability" OR "proximal renal tubular acidosis, autosomal recessive" OR "renal tubular acidosis, proximal, with ocular abnormalities" OR "Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"proximal renal tubular acidosis"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (2290) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:28:14.884Z