ORPHA:712
Hemolytic anemia due to glucophosphate isomerase deficiency
Also known as: GPI deficiency · Glucose-6-phosphate isomerase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
370
78th percentile
Trials
0
Interventional, condition-specific
Researchers
1,279
Distinct authors in sample
Gene link
GPI
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hemolytic anemia due to a defect of the glycolytic glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.
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:0013275
- OMIM:613470
- UMLS:C0272064
Additional Mondo synonyms (4)
CNSHA4 · anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient · glucosephosphate isomerase deficiency · hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase 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.”
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
Strong — GPI
- LiteraturePresent
370 matched papers (191 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 (GPI).
GenCC classification: Strong.
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?
370
370 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.
370 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).
191 in the last 10 years · medium confidence · 78th percentile (publications denominator)
Phrase hits: 370 · MeSH hits: 0
Who's working on it?
1,279
Distinct author names in 200 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.
- 01Kinoshita T32 papers · 2026
Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan.
Papers in Europe PMC - 02Murakami Y32 papers · 2026
Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan.
Papers in Europe PMC - 03Campeau PM13 papers · 2025
Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.
Papers in Europe PMC - 04Nguyen TTM9 papers · 2021
Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.
Papers in Europe PMC - 05Inoue N6 papers · 2022
Department of Molecular Genetics, Wakayama Medical University, Wakayama, Japan.
Papers in Europe PMC - 06Matsumoto N6 papers · 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
Papers in Europe PMC - 07van Wijk R6 papers · 2024
Department of Clinical Chemistry and Hematology, University Medical Center Utrecht Utrecht, the Netherlands.
Papers in Europe PMC - 08Barcellini W5 papers · 2022
UOS Fisiopatologia delle Anemie, UOC Ematologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 09Bianchi P5 papers · 2020
UOS Fisiopatologia delle Anemie, UOC Ematologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 10Kato M5 papers · 2025
Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8555, Japan.
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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Hemolytic anemia due to glucophosphate isomerase deficiency" OR "GPI deficiency" OR "Glucose-6-phosphate isomerase deficiency" OR "CNSHA4" OR "anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient" OR "glucosephosphate isomerase deficiency" OR "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hemolytic anemia due to glucophosphate isomerase deficiency" OR "GPI deficiency" OR "Glucose-6-phosphate isomerase deficiency" OR "CNSHA4" OR "anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient" OR "glucosephosphate isomerase deficiency" OR "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" OR "GPI" OR "congenital nonspherocytic hemolytic anemia" OR "anemia due to erythrocyte enzyme disorder" OR "congenital anemia"
Recall-expansion terms: GPI, congenital nonspherocytic hemolytic anemia, anemia due to erythrocyte enzyme disorder, congenital anemia
Study-type breakdown: 0 interventional · 0 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
- Publication count (370) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T14:59:46.888Z