ORPHA:99138
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, and mild hyperbilirubinemia. Other cells and tissues are not affected.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020458
- MeSH:C566314
- OMIM:102730
- OMIM:301083
- UMLS:C1863235
Additional Mondo synonyms (3)
adenosine deaminase, elevated, hemolytic anaemia due to · adenosine deaminase, elevated, hemolytic anemia due to · anemia, congenital, nonspherocytic hemolytic, 9
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.”
1/6 stages with a signal
Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteratureNot checked
Query returned nothing — not evidence of absence Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Erythroid hyperplasia; Stomatocytosis; Hyperbilirubinemia) 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 checked
Broken query — trial zero not trusted
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
6
Associated phenotypes · MONDO:0020458
- Erythroid hyperplasia
- Stomatocytosis
- Hyperbilirubinemia
- Hemolytic anemia
- Reduced erythrocyte adenosine triphosphate concentration
Showing 5 of 6 — 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 2026-07-27
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?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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). 2,114 trials are registered for anemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 9 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
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.
2,114 interventional trials matched anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: anemia
2,114
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06946394·NOT YET RECRUITING·Two Different Regiments of Pegmolesatide for Anemia in Patients With Chronic Kidney Disease Not Receiving Dialysis
Likely noise·Conditions: Renal Anemia in Non-dialysis Chronic Kidney Disease·Matched via name phraseBoth providers judged irrelevant.
- NCT06742528·RECRUITING·Comparison Of Efficacy Of Iron Polymaltose Complex And Ferrous Sulphate In Iron Deficiency Anemia In Pediatric Patients
Likely noise·Conditions: Iron Deficiency Anemia · Iron Deficiency, Anaemia in Children·Matched via name phraseBoth providers judged irrelevant.
- NCT07119372·RECRUITING·Study of the Efficacy and Safety of BCD-131 and Mircera® in the Treatment of Anemia in Patients With Chronic Kidney Disease on Dialysis
Likely noise·Conditions: Anemia · Chronic Kidney Disease · Chronic Kidney Disease Patients on Hemodialysis · Chronic Kidney Disease 5D·Matched via name phraseBoth providers judged irrelevant.
- NCT07563582·RECRUITING·Efficacy of Oral Sucrosomial Iron Supplementation in Children With Celiac Disease and Iron Deficiency or Anemia
Likely noise·Conditions: Celiac Disease in Children · Anemia · Iron Deficiencies·Matched via name phraseBoth providers judged irrelevant.
- NCT06648096·RECRUITING·Afatinib in Patients With Fanconi Anemia (FA) and Advanced Head and Neck Squamous Cell Carcinoma (HNSCC)
Likely noise·Conditions: Fanconi Anemia · Head and Neck Squamous Cell Carcinoma·Matched via name phraseBoth providers judged irrelevant.
- NCT04869683·RECRUITING·Biocollection in MyeloDysplastic Syndrome (P-MDS)
Likely noise·Conditions: Myelodysplastic Syndromes · Myelodysplastic Anemia · Myelodysplastic Syndrome With Isolated Del(5Q) · Myelodysplastic Syndrome With Ring Sideroblasts·Matched via name phraseBoth providers judged irrelevant.
- NCT07091370·NOT YET RECRUITING·Inaticabtagene Autoleucel Injection in the Treatment of Autoimmune Hemolytic Anemia After Three or More Lines of Therapy
Likely noise·Conditions: AIHA - Cold Autoimmune Hemolytic Anemia·Matched via name phraseBoth providers judged irrelevant.
- NCT06124586·RECRUITING·Early Percutaneous Transluminal Angioplasty in Diabetic Foot Syndrome (PTA-DFS)
Likely noise·Conditions: Diabetic Foot · Diabetes Mellitus · Peripheral Arterial Disease · Diabetic Neuropathies·Matched via name phraseBoth providers judged irrelevant.
- NCT07441525·RECRUITING·UCAR-T Targeting CD19/BCMA in Subjects With Autoantibody-Mediated Autoimmune Benign Hematological Diseases
Likely noise·Conditions: Autoimmune Hemolytic Anemia · Primary Immune Thrombocytopenic Purpura · Evans Syndrome·Matched via name phraseBoth providers judged irrelevant.
- NCT07038330·NOT YET RECRUITING·DOSE FINDING PROSPECTIVE ANALYSIS AFTER HEART SURGERY for Sucrosomial Iron
Likely noise·Conditions: Anemia·Matched via name phraseBoth providers judged irrelevant.
- NCT07163390·NOT YET RECRUITING·Iron Deficiency Anemia in the Second and Third Trimester of Pregnancy
Likely noise·Conditions: Anemia, Iron Deficiency · Pregnancy Anemia·Matched via name phraseBoth providers judged irrelevant.
- NCT07079579·NOT YET RECRUITING·Enarodustat Tablets at Different Initial Doses for Anemia in Non-dialysis CKD Patients
Likely noise·Conditions: Renal Anemia in Non-dialysis Chronic Kidney Disease·Matched via name phraseBoth providers judged irrelevant.
- NCT07569172·NOT YET RECRUITING·Improved Child Nutrition and Development Through Social Transfers
Likely noise·Conditions: Breastfeeding · Breastfeeding Education · Breastfeeding Duration · Breastfeeding Continuation·Matched via name phraseBoth providers judged irrelevant.
- NCT06560164·RECRUITING·Restrictive Versus Liberal Thresholds for RBC Transfusion in ECMO
Likely noise·Conditions: Transfusion · Red Blood Cell · Extracorporeal Membrane Oxygenation · Anemia·Matched via name phraseBoth providers judged irrelevant.
- NCT06487299·NOT YET RECRUITING·Iron Administration Via Colonic TET Combined With WMT for ID
Likely noise·Conditions: Iron Deficiency Anemia in Childbirth·Matched via name phraseBoth providers judged irrelevant.
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 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · dropped 40 · fetched 2026-07-27
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 (19)
- ctis·2023-505641-12-00·Expired·A Phase 3 Randomized, Placebo-Controlled Trial With a Longitudinal Natural History Run-In and Open-Label Extension to Evaluate BIIB067 Initiated in Clinically Presymptomatic Adults With a Confirmed Superoxide Dismutase 1 Mutation (ATLAS)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515883-30-00·Authorised, ongoing·COMPARE STEMI ONE- Comparison Of reduced DAPT followed by P2Y12 inhibitor Monotherapy with Prasugrel vs tAndard Regimen in STEMI patients treated with OCT-guided vs aNgio-guided completE revascularization.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-512483-59-00·Cancelled·TRACK - Treatment of cardiovascular disease with low dose Rivaroxaban in Advanced CKD.
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-508132-65-00·Authorised, ongoing·Efficacy of methylprednisolone pulses in neuroendocrine cells hyperplasia of infancy: an early phase study (CORTICONEHI).
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-510888-39-00·Expired·AHEAD 3-45 Study: A Placebo-Controlled, Double-Blind, Parallel Treatment Arm, 216 Week Study with an Extension Phase to Evaluate Efficacy and Safety of Treatment With BAN2401 in Subjects With Preclinical Alzheimer’s Disease and Elevated Amyloid (A45 Trial) and in Subjects With Early Preclinical Alzheimer’s Disease and Intermediate Amyloid (A3 Trial)
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-506494-35-00·Cancelled·A Therapeutic Non-Inferiority, Randomized, Observer-blind, Active-reference, Two-arm, Parallel Group, Multi-center Clinical Trial for Comparing the Efficacy and Tolerability of a Generic Fixed Combination of Brinzolamide 10mg/ml + Timolol 5mg/ml Eye Drops versus Azarga® 10mg/ml + 5mg/ml Eye Drops in the Treatment of Intraocular Pressure in Patients with Open Angle Glaucoma or Ocular Hypertension
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-508292-37-00·Expired·A randomized double-blind, placebo-controlled, multicenter trial assessing the impact of lipoprotein (a) lowering with pelacarsen (TQJ230) on major cardiovascular events in patients with established cardiovascular disease
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-508585-15-00·Cancelled·Optimization of Albuminuria-Lowering Therapies for Individual Patients with Type 2 Diabetes Using Empagliflozin and Finerenone in a Pilot Remote Clinical Trial
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-509747-27-00·Cancelled·C3651011 - A PHASE 2, DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED, 4-ARM STUDY TO INVESTIGATE SYMPTOMS, FUNCTION, HEALTH-RELATED QUALITY OF LIFE AND SAFETY WITH REPEATED SUBCUTANEOUS ADMINISTRATION OF PONSEGROMAB VERSUS PLACEBO IN ADULT PARTICIPANTS WITH HEART FAILURE
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-507348-35-00·Authorised, ongoing·Anti-viral action against Type 1 diabetes autoimmunity
GPPAD-05-AVAnT1A
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-510446-24-00·Cancelled·C3651003 A PHASE 2, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED STUDY TO INVESTIGATE THE EFFICACY, SAFETY AND TOLERABILITY OF PONSEGROMAB IN PATIENTS WITH CANCER, CACHEXIA, AND ELEVATED CONCENTRATIONS OF GDF-15, FOLLOWED BY AN OPTIONAL OPEN-LABEL TREATMENT PERIOD (PROACC -1)
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-509397-39-00·Cancelled·An Adaptive, Open-Label, Dose-Finding, Phase 1/2 Study Investigating the Safety, Pharmacokinetics, and Clinical Activity of Rilzabrutinib (PRN1008), an Oral BTK Inhibitor, in Patients with Relapsed Immune Thrombocytopenia
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-508120-35-00·Cancelled·Impact on gastric emptying measured by antral gastric ultrasound of erythromycin administration in stroke patients with indication for mechanical thrombectomy.
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-509091-42-00·Cancelled·A phase 2, randomised, double-blind, placebo-controlled trial to evaluate safety and local tolerability of four weekly administrations of A24110He in subjects with elevated triglyceride plasma concentrations
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-505542-26-00·Cancelled·A first-in-human, randomized, participant and investigator blinded, placebo-controlled single and multiple ascending dose study to assess the safety, tolerability and pharmacokinetics of HJB647 in healthy participants and otherwise healthy participants with elevated blood pressure, with an open-label CYP3A inhibitor drug-drug interaction part
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-503611-16-00·Expired·A single arm, open label extension (OLE), multicenter study to evaluate long-term safety and tolerability of pelacarsen (TQJ230) in patients with cardiovascular disease who have successfully completed the Frontiers Apheresis parent study
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-503831-17-00·Cancelled·A Phase 2 Study of Olaparib in Combination with Pembrolizumab in Participants with Previously Treated, Homologous Recombination Repair Mutation (HRRm) and/or Homologous Recombination Deficiency (HRD)-Positive Advanced Cancer
skipped — Beyond per-disease secondary LLM cap
- ctis·2022-501343-33-00·Expired·(21492 ARASTEP) A randomized, double-blind, placebo-controlled Phase 3 study of darolutamide plus androgen deprivation therapy (ADT) compared with placebo plus ADT in patients with high-risk biochemical recurrence (BCR) of prostate cancer
skipped — Beyond per-disease secondary LLM cap
- ctis·2022-502724-46-00·Suspended·A Phase 1/2a, Randomized, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Antiviral Activity of BJT-778 in Healthy Volunteers and in Subjects with Chronic Hepatitis B Infection, Including Subjects with Chronic Hepatitis D Infection
skipped — Beyond per-disease secondary LLM cap
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 erythrocyte adenosine deaminase overproduction — 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 erythrocyte adenosine deaminase overproduction" OR "adenosine deaminase, elevated, hemolytic anaemia due to" OR "adenosine deaminase, elevated, hemolytic anemia due to" OR "anemia, congenital, nonspherocytic hemolytic, 9"
MeSH descriptor terms unioned into the query: Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction" OR "adenosine deaminase, elevated, hemolytic anaemia due to" OR "adenosine deaminase, elevated, hemolytic anemia due to" OR "anemia, congenital, nonspherocytic hemolytic, 9" OR "congenital nonspherocytic hemolytic anemia" OR "anemia due to enzyme disorder" OR "congenital anemia"
Recall-expansion terms: congenital nonspherocytic hemolytic anemia, anemia due to enzyme disorder, congenital anemia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"anemia"
Query health: broken — strategies attempted: phrase, mesh, recall-expansion; with hits: none
Parent literature probe: congenital nonspherocytic hemolytic anemia (MONDO:0006506) — 133 hits
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
- Zero publications but parent term congenital nonspherocytic hemolytic anemia has 133 — literature likely indexed under a broader name
Ingested 2026-07-26T01:51:06.720Z · excluded from neglect metrics