ORPHA:363727
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
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)
A rare X-linked dyserythropoietic anemia characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow findings of trilineage with hypocellularity of erythroid and granulocytic lineages. Peripheral blood shows anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Platelet count is typically normal, although platelet morphology may be abnormal.
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:0010444
- OMIM:300835
- UMLS:C3550856
Additional Mondo synonyms (1)
anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive
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
10 HPO annotations (e.g. Anisocytosis; Impaired platelet aggregation; Macrocytic anemia) 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)
10
Associated phenotypes · MONDO:0010444
- Anisocytosis
- Impaired platelet aggregation
- Macrocytic anemia
- Thrombocytopenia
- Decreased total neutrophil count
Showing 5 of 10 — 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?
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).
Data as of 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
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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 (60)
- ctis·2025-523555-66-00·Authorised·A Phase 3, Randomized, Double-Blind, Active-Control Study of Pelabresib (DAK539) and Ruxolitinib vs. Placebo and Ruxolitinib in Adult Patients with Myelofibrosis who are JAK inhibitor naive
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523544-12-00·Authorised, ongoing·A Phase 3, Multicenter, Open-Label, Randomized Trial to Compare the Efficacy and Safety of Elritercept versus Epoetin Alfa for the Treatment of Anemia Due to IPSS-R Very Low, Low, or Intermediate Risk Myelodysplastic Syndromes in ESA-naïve Adult Participants Who Require Red Blood Cell Transfusions
skipped — LLM skipped (--skip-llm)
- ctis·2025-522246-43-00·Authorised·Study in healthy male participants to compare the blood levels after epoetin alfa (Blau EPO) and Erypo, administered as multiple intravenous injections as well as safety, tolerability and the effects on certain blood values.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522244-40-00·Authorised·Study in healthy volunteers to compare the blood levels after epoetin alfa (Blau EPO) and Erypo, administered as a single intravenous injection as well as safety, tolerability and the effects on certain blood values.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523845-90-00·Authorised, recruiting·Safety and Preliminary Efficacy of CTX112 in Adult Participants with Relapsed/Refractory Hematologic Autoimmune Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-521286-27-00·Authorised, ongoing·INCA000585-201 - A PHASE 2A, OPEN-LABEL, MULTI-CENTER STUDY OF TAFASITAMAB IN ADULT PARTICIPANTS WITH AUTOIMMUNE BLOOD CELL DISORDERS
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-523475-33-00·Authorised, ongoing·Caffeine Administration for Preterms: Pharmacokinetics, Utilization and Correlation Inhibiting Nociception Outcome
skipped — LLM skipped (--skip-llm)
- ctis·2024-519881-32-00·Authorised·A Single Arm, Open Label, Phase 1/2 Study to Evaluate the Pharmacokinetics and Safety of Etavopivat in Pediatric Patients with Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522509-39-00·Authorised, ongoing·Pacritinib For The Reduction Of Bone Marrow Fibrosis In Patients With Myelofibrosis Who Have Thrombocytopenia; A Multicenter, Open-Label, Single Arm, Phase II Exploratory Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-521257-17-00·Authorised, ongoing·DREPAMIR - A Phase 1/2 Open Label Cohort Comparative Study Evaluating the Efficacy and the safety of Gene Therapy of the Sickle Cell Disease by Transplantation of an Autologous CD34+ enriched cell fraction that contains autologous CD34+ cells transduced ex vivo by the bifunctional βAS3m/miR7m lentiviral vector expressing the βAS3m and a micro-RNA (miRNA) targeting specifically the endogenous βS-globin mRNA in Patients with Sickle Cell Disease (SCD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518231-11-00·Cancelled·Exploratory Study of Ianalumab in Adults with Primary Immune Thrombocytopenia (ITP) and Warm-antibody Autoimmune Hemolytic Anemia (wAIHA) who Have
Previously Benefited from Ianalumab (VAY RE-HIT)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517753-27-01·Authorised·A multicenter, randomized clinical trial comparing the efficacy and safety of certolizumab pegol and belimumab in patients with moderate or severe activity of systemic lupus erythematosus (CERT-SLE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520473-40-00·Authorised, ongoing·A Multicentre, Parallel-group, Phase IIb, Randomised, Double blind, Placebo-controlled, 4-Arm, 24-Week Study to Evaluate the Efficacy and Safety of AZD6793 Tablets in Adult Participants with Moderate to Very Severe Chronic Obstructive Pulmonary Disease (PRESTO).
skipped — LLM skipped (--skip-llm)
- ctis·2025-521838-29-00·Authorised, ongoing·Study of IADADEMSTAT for the Treatment of Sickle Cell Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521701-41-00·Authorised, ongoing·Darbepoetin in patients candidates for liver transplant: randomized clinical trial (EPO_LT trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519928-24-00·Authorised, ongoing·A Phase 2, Randomized, Open-label, Study of Momelotinib in Participants with Anemia due to Low-risk Myelodysplastic Syndrome.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519746-70-01·Expired·A Phase 2, Double-blind, Randomized, Placebo-Controlled, Multicenter, Dose-Finding, Efficacy, and Safety Study of Tebapivat in Participants With Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-517972-39-00·Authorised, ongoing·A phase 3, multicenter, randomized, double-blind, placebo- controlled, parallel-group study with an open-label period and long-term extension to assess the efficacy and safety of rilzabrutinib in participants with warm autoimmune hemolytic anemia (wAIHA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518886-89-00·Expired·Phase II randomized study on efficacy of nintedanib for treatment of epistaxis in hereditary haemorrhagic telangiectasia (HHT) patients - EPISTOP
skipped — LLM skipped (--skip-llm)
- ctis·2024-513440-29-00·Cancelled·A Phase 2 / Phase 3, Multicenter, Randomized, Multiple-Dose, Double-Blind, Placebo-Controlled Adaptive Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of CSL889 in Adults and Adolescents with Sickle Cell Disease during Vaso-Occlusive Crisis
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 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia — 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.
"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" OR "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" OR "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: broken — strategies attempted: phrase; with hits: none
Parent literature probe: congenital dyserythropoietic anemia (MONDO:0019403) — 1147 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 dyserythropoietic anemia has 1147 — literature likely indexed under a broader name
Ingested 2026-07-27T14:43:39.320Z · excluded from neglect metrics