ORPHA:93607
Autosomal recessive proximal renal tubular acidosis
Also known as: AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
Publications
25
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
117
Distinct authors in sample
Gene link
SLC4A4
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011422
- MeSH:C567038
- OMIM:604278
- UMLS:C1970309
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.”
2/6 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.
- Gene identifiedPresent
Definitive — SLC4A4
- LiteraturePresent
25 matched papers (13 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 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)
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?
25
25 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.
25 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 25 · MeSH hits: 2
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.
- 01Kurtz 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 - 02Abuladze N5 papers · 2013
Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.
Papers in Europe PMC - 03Azimov R5 papers · 2013
Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.
Papers in Europe PMC - 04Kao L5 papers · 2013
Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.
Papers in Europe PMC - 05Liu W5 papers · 2013
Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.
Papers in Europe PMC - 06Newman D5 papers · 2013
Department of Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California 90095-1689.
Papers in Europe PMC - 07Pushkin A4 papers · 2010Papers in Europe PMC
- 08Zhu Q4 papers · 2013
Division of Nephrology, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1689, USA.
Papers in Europe PMC - 09Sassani P2 papers · 2008Papers in Europe PMC
- 10Wright 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 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.
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
- 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.
"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"
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" OR "SLC4A4" OR "inherited renal tubular disease" OR "autosomal genetic disease" OR "renal tubule disorder"
Recall-expansion terms: SLC4A4, inherited renal tubular disease, autosomal genetic disease, renal tubule disorder
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, recall-expansion; 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
Ingested 2026-07-27T04:28:14.884Z