ORPHA:79233
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Also known as: HPRT deficiency, grade I · HPRT partial deficiency · HPRT-related gout · HPRT-related hyperuricemia · HPRT1 partial deficiency · Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I · Kelley-Seegmiller syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
15,341
Trials
0
Interventional, condition-specific
Researchers
405
Distinct authors in sample
Gene link
HPRT1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction leading to urolithiasis, and early-onset gout, and a continuum spectrum of neurological manifestations, depending on the degree of the deficiency, without self-injurious behavior.
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:0010299
- MeSH:C562583
- OMIM:300323
- UMLS:C0268117
Additional Mondo synonyms (3)
hyperuricemia, HRPT-related, X-linked recessive · hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency · hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
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.
- Gene identifiedPresent
Strong — HPRT1
- LiteraturePresent
15,341 matched papers (10,335 in last 10 years) Source
- Phenotype characterisedPresent
23 HPO annotations (e.g. Self-mutilation; Renal insufficiency; Kidney stone) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (HPRT1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
23
Associated phenotypes · MONDO:0010299
- Self-mutilation
- Renal insufficiency
- Kidney stone
- Podagra
- Hyperuricosuria
Showing 5 of 23 — 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?
15,341
15,341 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
15,341 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).
10,335 in the last 10 years · low confidence
Phrase hits: 81 · MeSH hits: 0
Who's working on it?
405
Distinct author names in 81 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.
- 01Yamada Y8 papers · 2014
Department of Genetics, Inst. Developmental Res., Aichi Human Service Center, Aichi, Japan.
Papers in Europe PMC - 02Torres RJ6 papers · 2025
Division of Clinical Biochemistry and Genetic Institute, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain.
Papers in Europe PMC - 03Wakamatsu N6 papers · 2014Papers in Europe PMC
- 04Fairbanks LD5 papers · 2017
Purine Research Unit, Department of Chemical Pathology, GKT, Guy's Hospital, London SE1 9RT, U.K. lynette.fairbanks@kcl.ac.uk
Papers in Europe PMC - 05
- 06Yamada K5 papers · 2014Papers in Europe PMC
- 07Fujimori S4 papers · 2014Papers in Europe PMC
- 08Kaneko K4 papers · 2014Papers in Europe PMC
- 09Nomura N4 papers · 2014Papers in Europe PMC
- 10Jacomelli G3 papers · 2025
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 26 · after dedupe 25 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 25 · 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).
Uncertain / not reviewed (25)
- ctis·2024-516196-32-00·Authorised, ongoing·Substantially improving the cure rate of high-risk BRCA1-like breast cancer patients with personalized therapy (SUBITO) - an international randomized phase III trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-518179-76-00·Cancelled·Randomized, multi-center, double-blind, two-armed, parallel active groups, prospective trial, to evaluate, in pediatric population undergoing 'Calcaneo stop' surgery or Inguinal hernia repair, the efficacy and safety of chloroprocaine 1% and 2% for peripheral nerve block based on concentration-response relationships.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514242-36-00·Authorised, ongoing·LEVOSAH - Pilot study comparing the effectiveness of adding treatment with Levosimendan to usual care for the management of the acute phase of aneurysmal subarachnoid hemorrhages
skipped — LLM skipped (--skip-llm)
- ctis·2024-513063-45-00·Cancelled·Randomized, controlled, double-blind, multi-center trial to evaluate the efficacy and safety of an Esflurbiprofen Topical System (EFTS) vs. placebo in the local symptomatic and short-term treatment of pain in ankle sprains.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514948-89-00·Cancelled·An Open-Label Phase I/II Study of Relatlimab (BMS-986016) with Nivolumab (BMS-936558) in Combination with 5-Azacytidine for Relapsed/Refractory Acute Myeloid Leukemia and in Combination with 5-Azacytidine and Venetoclax for Newly Diagnosed, Previously Untreated Patients with Acute Myeloid Leukemia Negative for NPM1 and IDH 1/2 Mutations Who Are Ineligible for Intensive Chemotherapy (AARON)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516494-73-00·Cancelled·FORMAT Study : Use of fibrinogen in the treatment of bleeding in thrombopenic patients after intensive chemotherapy refractory to platelet transfusion - evaluation by rotem viscoelastometry (pilot single-center study).
skipped — LLM skipped (--skip-llm)
- ctis·2024-510690-16-00·Authorised, ongoing·SYMPHONY-1: A PHASE 1B/3 DOUBLE-BLIND, RANDOMIZED, ACTIVE-CONTROLLED, 3-STAGE, BIOMARKER ADAPTIVE STUDY OF TAZEMETOSTAT OR PLACEBO IN COMBINATION WITH LENALIDOMIDE PLUS RITUXIMAB IN SUBJECTS WITH RELAPSED/REFRACTORY FOLLICULAR LYMPHOMA
skipped — LLM skipped (--skip-llm)
- ctis·2024-512321-84-00·Authorised, ongoing·Treatment of chemo-refractory viral infections after allogeneic stem cell transplantation with multispecific T cells against CMV, EBV and AdV: A phase III, prospective, multicentre clinical trial (TRACE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511747-25-00·Expired·AN OPEN-LABEL STUDY TO ASSESS THE ANTI-TUMOR ACTIVITY AND SAFETY OF REGN1979, AN ANTI CD20 X ANTI-CD3 BISPECIFIC ANTIBODY, IN PATIENTS WITH RELAPSED OR REFRACTORY B CELL NON-HODGKIN LYMPHOMA
skipped — LLM skipped (--skip-llm)
- ctis·2023-510553-41-00·Cancelled·TAZEMETOSTAT ROLLOVER STUDY (TRUST): AN OPEN-LABEL, ROLLOVER STUDY
skipped — LLM skipped (--skip-llm)
- ctis·2023-505628-67-00·Expired·A Phase 3, Open-Label Study to Evaluate Safety and Efficacy of Epcoritamab in Combination with Rituximab and Lenalidomide (R2) compared to R2 in Subjects with Relapsed or Refractory Follicular Lymphoma (EPCORE™ FL-1)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509975-17-00·Cancelled·An International, Phase 2, Open-Label, Randomized Study of BGB-3111 Combined With Obinutuzumab Compared With Obinutuzumab Monotherapy in Relapsed/ Refractory Follicular Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-508091-11-00·Cancelled·Clinical efficacy and safety of sequential therapy with cryotherapy and topical tirbanibulin 1% in actinic keratoses in transplant recipients: a randomised clinical trial.
skipped — LLM skipped (--skip-llm)
- ctis·2022-502616-37-00·Expired·An Open-Label, Phase I/II Study to Evaluate the Safety, Pharmacokinetics and Preliminary Anti-Tumor Activity of Englumafusp Alfa (RO7227166, a CD19 Targeted 4-1BB Ligand) in Combination with Obinutuzumab and in Combination with Glofitamab Following a Pre-Treatment Dose of Obinutuzumab Administered in Participants with Relapsed/Refractory B-Cell Non-Hodgkin’s Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-507271-21-00·Cancelled·A Multicenter, Randomized, Double-blind, Placebo-controlled Phase 3 Study of the Bruton’s Tyrosine Kinase (BTK) Inhibitor, Ibrutinib, in Combination with Rituximab versus Placebo in Combination with Rituximab in Treatment Naïve Subjects with Follicular Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-505884-35-00·Authorised, ongoing·Absorbed Tumor Dose in Peptide Receptor Radionuclide Therapy with long-acting Somatostatin Analogues – ATSA trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-502113-28-00·Authorised, ongoing·A Phase 3, Open-Label, Randomized Study To Compare the Efficacy and Safety of Odronextamab (REGN1979), an Anti-CD20 x Anti-CD3 Bispecific Antibody, Combined with Chemotherapy versus Rituximab Combined with Chemotherapy in Previously Untreated Participants with Follicular Lymphoma (OLYMPIA-2)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504555-27-00·Authorised, ongoing·Phase III study comparing GVHD prophylaxis with ATG-thymoglobulin to ATLG-grafalon in elderly patients with acute myeloid leukemia or myelodysplastic syndrome and receiving an allogeneic hematopoietic stem cell transplantation with a 10/10 HLA matched unrelated donor following a reduced intensity conditioning regimen by fludarabine-treosulfan (OPTISAGE)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503452-27-00·Expired·A randomized, open-label, multi-center phase III trial comparing tisagenlecleucel to standard of care in adult participants with relapsed or refractory follicular lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2022-502548-12-00·Authorised, recruiting·A Phase 3 Randomized, Open-Label, Multicenter Study of Zanubrutinib (BGB 3111) Plus Anti-CD20 Antibodies Versus Lenalidomide Plus Rituximab in Patients With Relapsed/Refractory Follicular or Marginal Zone Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-505214-23-00·Authorised, ongoing·PRODIGE 87 FOXTROT II : Personalising and refining neo-adjuvant chemotherapy in locally advanced but resectable colon cancer in the elderly of 70 years old or more
skipped — LLM skipped (--skip-llm)
- ctis·2022-500293-34-01·Authorised, recruiting·Phase I single arm, dose escalating and phase II double blind, randomized, placebo-controlled dose finding clinical trial assessing safety, and efficacy of intratracheal administration of allogeneic umbilical mesenchymal cells-derived extracellular vesicles in preventing bronchopulmonary dysplasia in extremely preterm newborns.
skipped — LLM skipped (--skip-llm)
- ctis·2022-502292-39-00·Authorised, ongoing·Does adding patient-controlled sedation with propofol during repair of obstetric perineal lacerations grade I and II improve patient experiences - a randomized control trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-500100-21-01·Expired·Phase II multicenter clinical trial: Mosunetuzumab for early relapse of follicular lymphoma in the Nordic countries (MERLIN/NLG-FL6/ML43841)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501138-49-00·Cancelled·ME-401 combined with rituximab-bendamustine for high-risk and rituximab with a 1:1 randomization to ME-401 for low-risk follicular lymphoma as primary treatment: a phase II study – NLG-FL5 (Follicular lymphoma and ME-401: FLAME)
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 Hypoxanthine guanine phosphoribosyltransferase partial 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.
("Hypoxanthine guanine phosphoribosyltransferase partial deficiency" OR "HPRT deficiency, grade I" OR "HPRT partial deficiency" OR "HPRT-related gout" OR "HPRT-related hyperuricemia" OR "HPRT1 partial deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" OR "Kelley-Seegmiller syndrome" OR "hyperuricemia, HRPT-related, X-linked recessive") OR (MESH:"Gout, HPRT-Related") OR ("HPRT1" OR "HPRT1 syndrome" OR "HPRT1-related")MeSH descriptor terms unioned into the query: Gout, HPRT-Related
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypoxanthine guanine phosphoribosyltransferase partial deficiency" OR "HPRT deficiency, grade I" OR "HPRT partial deficiency" OR "HPRT-related gout" OR "HPRT-related hyperuricemia" OR "HPRT1 partial deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" OR "Kelley-Seegmiller syndrome" OR "hyperuricemia, HRPT-related, X-linked recessive" OR "Gout, HPRT-Related"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (15341) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T02:05:51.405Z