ORPHA:976
Adenine phosphoribosyltransferase deficiency
Also known as: 2,8-dihydroxyadenine urolithiasis · APRT deficiency
Publications
3,370
88.3th percentile
Trials
1
Interventional, condition-specific
Researchers
970
Distinct authors in sample
Gene link
APRT
Definitive
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013869
- MeSH:C538228
- OMIM:614723
- UMLS:C0268120
- NCIT:C121564
Additional Mondo synonyms (2)
2,8-dihydroxyadeninuria disease · adenine phosphoribosyltransferase deficiency
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — APRT
- LiteraturePresent
3,370 matched papers (1,219 in last 10 years) Source
- Phenotype characterisedPresent
28 HPO annotations (e.g. Urolithiasis; Hematuria; Oliguria) Source
- Animal modelPresent
3 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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 (APRT).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
28
Associated phenotypes · MONDO:0013869
- Urolithiasis
- Hematuria
- Oliguria
- Kidney stone
- Metabolic acidosis
Showing 5 of 28 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Aprttm1Jat/Aprttm1Jat [background:] involves: 129S2/SvPas * Black Swiss·MGI:2449114·Mus musculus
- Aprttm1Jat/Aprttm1Jat [background:] involves: 129S2/SvPas * C57BL/6J·MGI:2449115·Mus musculus
- Aprttm1Dwm/Aprttm1Dwm [background:] involves: 129P2/OlaHsd * BALB/c·MGI:2449123·Mus musculus
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?
3,370
3,370 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.
3,370 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).
1,219 in the last 10 years · high confidence · 88.3th percentile (publications denominator)
Phrase hits: 460 · MeSH hits: 0
Who's working on it?
970
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Edvardsson VO21 papers · 2026
Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
Papers in Europe PMC - 02Palsson R20 papers · 2026
Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. runolfur@landspitali.is.
Papers in Europe PMC - 03Runolfsdottir HL14 papers · 2026
Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. hilda_linnet@hotmail.com.
Papers in Europe PMC - 04Daudon M11 papers · 2023
Service d'Explorations Fonctionnelles, AP-HP, Hôpital Tenon, Paris, France.
Papers in Europe PMC - 05Ceballos-Picot I10 papers · 2024
Metabolomic and Proteomic Biochemistry Laboratory, Necker-Enfants Malades Hospital and Paris Cité University, Paris, France.
Papers in Europe PMC - 06Kamatani N10 papers · 2004
Institute of Rheumatology, Tokyo Women's Medical College, Japan.
Papers in Europe PMC - 07Sahota A10 papers · 2015
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
Papers in Europe PMC - 08Thorsteinsdottir M8 papers · 2025
University of Iceland, Reykjavik, Iceland; ArcticMass, Reykjavik, Iceland. Electronic address: margreth@hi.is.
Papers in Europe PMC - 09Thorsteinsdottir UA7 papers · 2025
University of Iceland, Reykjavik, Iceland; ArcticMass, Reykjavik, Iceland. Electronic address: u.thorsteinsdottir@gmail.com.
Papers in Europe PMC - 10Tischfield JA7 papers · 2001Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
high confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
6 observational studies match 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
- NCT02026388·RECRUITING·Rare Kidney Stone Consortium Biobank
Not reviewed·Conditions: Primary Hyperoxaluria · Dent Disease · APRT Deficiency · Cystinuria·Matched via name phrase
- NCT02780297·RECRUITING·Prospective Research Rare Kidney Stones (ProRKS)
Not reviewed·Conditions: Hyperoxaluria · Cystinuria · Dent Disease · Lowe Syndrome·Matched via name phrase
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Not reviewed·Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
- NCT00588562·RECRUITING·Rare Kidney Stone Consortium Patient Registry
Not reviewed·Conditions: Primary Hyperoxaluria · Dent Disease · Cystinuria · APRT Deficiency·Matched via name phrase
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Not reviewed·Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (60)
- ctis·2026-525382-47-00·Authorised·A Phase 2 Study of Alisertib in Combination with Paclitaxel in Patients with Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-525106-37-00·Authorised·Comparative study of two vaccination schedules for the subunit Herpes Zoster vaccine in Multiple Sclerosis and Neuromyelitis optica spectrum disease patients treated with anti-CD20 therapy: an open-label randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524003-68-00·Authorised·OBINUSS - Safety and efficacy of obinutuzumab in systemic sclerosis: a phase II, randomized, double-blinded versus placebo-controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525933-22-00·Authorised·STRategiEs for Antiplatelet Management foLlowIng acute coroNary syndromE (STREAMLINE)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525484-40-00·Authorised·A Phase 1 Study of PRT12396 in Participants with Select Myeloproliferative Neoplasms
skipped — LLM skipped (--skip-llm)
- ctis·2026-526368-18-00·Authorised·A Randomized Controlled Study Evaluating Short-Term Dual Antiplatelet Therapy with Low-Dose Ticagrelor (60 mg) Followed by Monotherapy versus Standard-Duration Dual Antiplatelet Therapy with Clopidogrel in Patients with Chronic Coronary Syndrome Undergoing Percutaneous Coronary Intervention: the STELAR trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524233-45-00·Authorised·A first-in-human, randomized, double-blind, placebo-controlled, 3-part study assessing the safety, tolerability, pharmacodynamics and pharmacokinetics of GL0071 after single and repeated ascending subcutaneous doses in healthy normal weight, overweight and obese participants, as well as a 12-week treatment randomized, double blind, placebo-controlled exploratory Proof-of-Concept study in overweight and obese participants.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522757-19-00·Authorised·A Cancer Research UK Phase II trial of CY-101 given via intratumoural administration in locally advanced or metastatic adrenocortical carcinoma (CLARITY)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524816-13-00·Authorised·A Phase 2 Study Evaluating the Safety and Efficacy of Neoadjuvant Amivantamab in Combination with Lazertinib or Chemotherapy in Resectable EGFR-Mutated Non-Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522488-14-00·Authorised·A clinical study to compare efficacy and safety of two different doses of CagriSema and semaglutide in participants with obesity with or without type 2 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-523819-11-00·Authorised·A Phase 3 Randomized, Open Label, Multicenter Study to Evaluate the Safety and Efficacy of ABBV-706 versus Standard of Care in Subjects with Relapsed/Refractory Small Cell Lung Cancer (SCLC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-524688-19-00·Authorised·A Phase III Randomized, Double-blind, Placebo-controlled Multicenter Master Protocol to Evaluate the Efficacy and Safety of Elecoglipron in Participants with Obesity or Overweight with or without Type 2 Diabetes Mellitus (Embold)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2026-525862-23-00·Authorised·Evaluation of the effect of botulinum toxin on refractory upper limb rest tremor in parkinsonian patients, double-blind, placebo-controlled cross-over study : TOX PARK
skipped — LLM skipped (--skip-llm)
- ctis·2025-525040-18-00·Authorised·DECREASE-IPC 2025-068 : De-Ecalating neoadjuvant Chemoimmunotherapy in early triple-negative BREASt cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523650-14-00·Authorised·functional imaging of digital osteoarthritis and rheumatoid arthritis using 99mTc-NTP15-5 in nuclear medicine : phase II clinical study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2026-525417-31-00·Authorised·A randomised active-controlled trial to assess the safety and pharmacodynamics of two blinded doses of vortosiran and open-label apixaban in patients with non-valvular atrial fibrillation
skipped — LLM skipped (--skip-llm)
- ctis·2025-523994-41-00·Authorised·A Phase III, Randomized, Double-blind, Parallel-group, Placebo-controlled Multicenter Study to Evaluate the Effect of Elecoglipron in Reducing Renal Outcomes and Mortality in Participants with Chronic Kidney Disease (Elevate-CKD)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525185-21-00·Authorised·IKF-099/D-FLOT-TNT
Total Neoadjuvant Treatment with preoperative FLOT/Durvalumab plus postoperative Durvalumab for Resectable Gastroesophageal Adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-522263-14-00·Authorised·A Phase 2/3 Randomized, Double Blind, Placebo-Controlled, Dose Ranging Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants with Huntington’s Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524418-27-00·Authorised·A Phase 1/2, dose escalation and expansion study of TRI-611, an oral ALK molecular glue degrader in participants with advanced ALK-positive NSCLC
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523435-18-00·Authorised·Colchicine for the Reduction of Dependency and Vascular Events after an Acute Intracerebral Hemorrhage (CoVasc-ICH2)
skipped — LLM skipped (--skip-llm)
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 Adenine phosphoribosyltransferase deficiency — check Associations / patient organisations on that page.
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.
("Adenine phosphoribosyltransferase deficiency" OR "2,8-dihydroxyadenine urolithiasis" OR "APRT deficiency" OR "2,8-dihydroxyadeninuria disease") OR ("APRT" OR "APRT syndrome" OR "APRT-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adenine phosphoribosyltransferase deficiency" OR "2,8-dihydroxyadenine urolithiasis" OR "APRT deficiency" OR "2,8-dihydroxyadeninuria disease"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-26T16:04:58.707Z