ORPHA:75564
Acquired idiopathic sideroblastic anemia
Also known as: AISA · Primary acquired sideroblastic anemia · RARS · Refractory anemia with ringed sideroblasts
Publications
5,175
90.5th percentile
Trials
19
Interventional, condition-specific
Researchers
1,518
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019157
- UMLS:C4016601
- NCIT:C4036
Additional Mondo synonyms (15)
MDS with ring sideroblasts · MDS-RS · Pure sideroblastic Anaemia · Pure sideroblastic Anemia · acquired idiopathic sideroblastic anaemia · acquired idiopathic sideroblastic anemia · myelodysplastic syndrome with Ring sideroblasts · primary acquired sideroblastic anaemia · primary acquired sideroblastic anemia · refractory Anaemia with Ring sideroblasts · refractory Anaemia with ringed sideroblasts · refractory Anemia with Ring sideroblasts · refractory Anemia with ringed sideroblasts · refractory anaemia with ringed sideroblasts · refractory anemia with ringed sideroblasts
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5,175 matched papers (1,922 in last 10 years) Source
- Phenotype characterisedPresent
28 HPO annotations (e.g. Normochromic anemia; Normocytic anemia; Abnormal fingernail morphology) 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 trialPresent
19 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
28
Associated phenotypes · MONDO:0019157
- Normochromic anemia
- Normocytic anemia
- Abnormal fingernail morphology
- Hypochromic anemia
- Increased total leukocyte count
Showing 5 of 28 — 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?
5,175
5,175 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.
5,175 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).
1,922 in the last 10 years · medium confidence · 90.5th percentile (publications denominator)
Phrase hits: 5,175 · MeSH hits: 0
Who's working on it?
1,518
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01
- 02Hou HA6 papers · 2026
Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan. hsinanhou@ntu.edu.tw.
Papers in Europe PMC - 03Park S6 papers · 2026
Department of Haematology CHU Grenoble Alpes Grenoble France.
Papers in Europe PMC - 04Patnaik MM6 papers · 2022
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 05Tefferi A6 papers · 2022
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 06Tien HF6 papers · 2026
Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Papers in Europe PMC - 07Barbosa I5 papers · 2025
Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, Huddinge, Sweden.
Papers in Europe PMC - 08Chou WC5 papers · 2026
Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Papers in Europe PMC - 09Creignou M5 papers · 2026
Phase 1 unit, Center for Clinical Cancer Studies, Karolinska University Hospital, Stockholm, Sweden.
Papers in Europe PMC - 10Li X5 papers · 2026
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science and Peking Union Medical College, 288 Nanjing Road, Tianjin, 300020, People's Republic of China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
19
interventional trials for this specific condition
19 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial are registered for sideroblastic anemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026
19 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.6th percentile).
medium confidence · 94.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
19 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04869683·RECRUITING·Biocollection in MyeloDysplastic Syndrome (P-MDS)
Not reviewed·Conditions: Myelodysplastic Syndromes · Myelodysplastic Anemia · Myelodysplastic Syndrome With Isolated Del(5Q) · Myelodysplastic Syndrome With Ring Sideroblasts·Matched via name phrase
Broader category: sideroblastic anemia
1
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.
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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-30
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).
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 Acquired idiopathic sideroblastic anemia — 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.
"Acquired idiopathic sideroblastic anemia" OR "Primary acquired sideroblastic anemia" OR "Refractory anemia with ringed sideroblasts" OR "MDS with ring sideroblasts" OR "MDS-RS" OR "Pure sideroblastic Anaemia" OR "Pure sideroblastic Anemia" OR "acquired idiopathic sideroblastic anaemia" OR "myelodysplastic syndrome with Ring sideroblasts" OR "primary acquired sideroblastic anaemia" OR "refractory Anaemia with Ring sideroblasts" OR "refractory Anaemia with ringed sideroblasts" OR "refractory Anemia with Ring sideroblasts"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acquired idiopathic sideroblastic anemia" OR "Primary acquired sideroblastic anemia" OR "Refractory anemia with ringed sideroblasts" OR "MDS with ring sideroblasts" OR "MDS-RS" OR "Pure sideroblastic Anaemia" OR "Pure sideroblastic Anemia" OR "acquired idiopathic sideroblastic anaemia" OR "myelodysplastic syndrome with Ring sideroblasts" OR "primary acquired sideroblastic anaemia" OR "refractory Anaemia with Ring sideroblasts" OR "refractory Anaemia with ringed sideroblasts" OR "refractory Anemia with Ring sideroblasts"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 19 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sideroblastic anemia"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AISA; RARS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:50:21.215Z