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ORPHA:976

Adenine phosphoribosyltransferase deficiency

high confidenceDisorder

Also known as: 2,8-dihydroxyadenine urolithiasis · APRT deficiency

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

Publications

460

76.1th percentile

Trials

1

Interventional, condition-specific

Researchers

970

Distinct authors in sample

Gene link

APRT

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — APRT

  2. LiteraturePresent

    460 matched papers (171 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 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)

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?

460

460 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.

460 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).

171 in the last 10 years · high confidence · 76.1th percentile (publications denominator)

Phrase hits: 460 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Edvardsson VO21 papers · 2026

    Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.

    Papers in Europe PMC
  2. 02
    Palsson R20 papers · 2026

    Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. runolfur@landspitali.is.

    Papers in Europe PMC
  3. 03
    Runolfsdottir HL14 papers · 2026

    Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. hilda_linnet@hotmail.com.

    Papers in Europe PMC
  4. 04
    Daudon M11 papers · 2023

    Service d'Explorations Fonctionnelles, AP-HP, Hôpital Tenon, Paris, France.

    Papers in Europe PMC
  5. 05
    Ceballos-Picot I10 papers · 2024

    Metabolomic and Proteomic Biochemistry Laboratory, Necker-Enfants Malades Hospital and Paris Cité University, Paris, France.

    Papers in Europe PMC
  6. 06
    Kamatani N10 papers · 2004

    Institute of Rheumatology, Tokyo Women's Medical College, Japan.

    Papers in Europe PMC
  7. 07
    Sahota A10 papers · 2015

    Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.

    Papers in Europe PMC
  8. 08
    Thorsteinsdottir M8 papers · 2025

    University of Iceland, Reykjavik, Iceland; ArcticMass, Reykjavik, Iceland. Electronic address: margreth@hi.is.

    Papers in Europe PMC
  9. 09
    Thorsteinsdottir UA7 papers · 2025

    University of Iceland, Reykjavik, Iceland; ArcticMass, Reykjavik, Iceland. Electronic address: u.thorsteinsdottir@gmail.com.

    Papers in Europe PMC
  10. 10
    Tischfield JA7 papers · 2001
    Papers 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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th 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

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.

"Adenine phosphoribosyltransferase deficiency" OR "2,8-dihydroxyadenine urolithiasis" OR "APRT deficiency" OR "2,8-dihydroxyadeninuria disease"

Run this search on Europe PMC

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" OR "APRT"

Recall-expansion terms: APRT

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: 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 2026-07-26T16:04:58.707Z