ORPHA:35120
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Also known as: P5N deficiency · UMPH1 deficiency · Uridine 5'-monophosphate hydrolase deficiency
Publications
339
73.8th percentile
Trials
0
Interventional, condition-specific
Researchers
144
Distinct authors in sample
Gene link
NT5C3A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, , hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, , , gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009946
- MeSH:C564859
- OMIM:266120
- UMLS:C1849507
Additional Mondo synonyms (9)
anemia, congenital, nonspherocytic hemolytic, 8 · anemia, hemolytic, due to UMPH1 deficiency · hemolytic anemia due to P5N deficiency · hemolytic anemia due to UMPH1 deficiency · pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to · pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to · uridine 5'-monophosphate hydrolase deficiency · uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to · uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
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
Definitive — NT5C3A
- LiteraturePresent
339 matched papers (277 in last 10 years) Source
- Phenotype characterisedPresent
5 HPO annotations (e.g. Hyperbilirubinemia; Hemolytic anemia; Reticulocytosis) 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 (NT5C3A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
5
Associated phenotypes · MONDO:0009946
- Hyperbilirubinemia
- Hemolytic anemia
- Reticulocytosis
- Reduced circulating pyrimidine 5-prime-nucleotidase activity
- Hemoglobinuria
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?
339
339 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=3967) is 59.
339 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).
277 in the last 10 years · medium confidence · 73.8th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
144
Distinct author names in 33 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.
- 01Miwa S5 papers · 1987Papers in Europe PMC
- 02Fujii H4 papers · 1987Papers in Europe PMC
- 03Aguilar i Bascompte JL2 papers · 1984Papers in Europe PMC
- 04de Korte D2 papers · 1989
Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam.
Papers in Europe PMC - 05Ishida Y2 papers · 1981Papers in Europe PMC
- 06Kim N2 papers · 2023
Dong-A University, College of Medicine, Busan, Department of Pediatrics, Seoul, Korea.
Papers in Europe PMC - 07Lachant NA2 papers · 1989
Department of Medicine, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance 90502.
Papers in Europe PMC - 08Roos D2 papers · 1989Papers in Europe PMC
- 09Seip M2 papers · 1989Papers in Europe PMC
- 10Sijstermans JM2 papers · 1989Papers 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.
medium 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.
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
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Hemolytic anemia due to pyrimidine 5' nucleotidase 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.
("Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" OR "P5N deficiency" OR "UMPH1 deficiency" OR "Uridine 5'-monophosphate hydrolase deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 8" OR "anemia, hemolytic, due to UMPH1 deficiency" OR "hemolytic anemia due to P5N deficiency" OR "hemolytic anemia due to UMPH1 deficiency" OR "pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to" OR "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to" OR "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" OR "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to") OR ("NT5C3A" OR "NT5C3A syndrome" OR "NT5C3A-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" OR "P5N deficiency" OR "UMPH1 deficiency" OR "Uridine 5'-monophosphate hydrolase deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 8" OR "anemia, hemolytic, due to UMPH1 deficiency" OR "hemolytic anemia due to P5N deficiency" OR "hemolytic anemia due to UMPH1 deficiency" OR "pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to" OR "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to" OR "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" OR "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to"
Study-type breakdown: 0 interventional · 1 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
- Publication count (339) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T23:44:22.672Z