ORPHA:71275
Rh deficiency syndrome
Also known as: Rh-null syndrome
Publications
2,258
Trials
0
Interventional, condition-specific
Researchers
204
Distinct authors in sample
Gene link
RHAG, RHCE
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019107
- MeSH:C562717
- OMIM:268150
- UMLS:C0272052
Additional Mondo synonyms (1)
anemia, hemolytic, Rh-null, regulator type
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 — RHAG, RHCE
- LiteraturePresent
2,258 matched papers (1,237 in last 10 years) Source
- Phenotype characterisedPresent
24 HPO annotations (e.g. Stomatocytosis; Increased red cell osmotic fragility; Tachypnea) 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 (RHAG, RHCE).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
24
Associated phenotypes · MONDO:0019107
- Stomatocytosis
- Increased red cell osmotic fragility
- Tachypnea
Showing 3 of 24 — 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?
2,258
2,258 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,258 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).
1,237 in the last 10 years · low confidence
Phrase hits: 43 · MeSH hits: 2
Who's working on it?
204
Distinct author names in 43 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.
- 01Cartron JP7 papers · 2013
INSERM U76 INTS, 6 rue Alexandre Cabanel, 75015, Paris, France. cartron@idf.inserm.fr
Papers in Europe PMC - 02Huang CH6 papers · 2010
Lindsley F. Kimball Research Institute, New York Blood Center, NY 10021, USA.
Papers in Europe PMC - 03Raynal V5 papers · 2000Papers in Europe PMC
- 04Chérif-Zahar B4 papers · 2000
INSERM U76, Institut National de la Transfusion Sanguine, Paris, France.
Papers in Europe PMC - 05Chen Y3 papers · 1999Papers in Europe PMC
- 06Colin Y3 papers · 1996Papers in Europe PMC
- 07Anstee DJ2 papers · 2011
Bristol Institute for Transfusion Sciences, NHS Blood and Transplant, Bristol, U.K.
Papers in Europe PMC - 08Bailly P2 papers · 1996Papers in Europe PMC
- 09Bell AJ2 papers · 2016
School of Biochemistry, Medical Sciences Building, University of Bristol, University Walk, Bristol, U.K.
Papers in Europe PMC - 10Gane P2 papers · 1998Papers 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 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.
low 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.
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 63 · after dedupe 63 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 63 · 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 (63)
- isrctn·ISRCTN20573724·Recruiting·A study to assess the safety and efficacy of an experimental malaria vaccine by infecting vaccinated and unvaccinated volunteers with malaria parasites
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12174271·No longer recruiting·Controlled human malaria infection transmission model - Mali
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15174417·No longer recruiting·Efficacy and safety of delayed cord clamping versus umbilical cord milking in term neonates
skipped — LLM skipped (--skip-llm)
- 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·2025-523544-12-00·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·2025-523475-33-00·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·2024-519709-37-00·Authorised·A Single Arm Study to Evaluate the Efficacy and Safety of Pozelimab and Cemdisiran Combination Therapy in Patients with Paroxysmal Nocturnal Hemoglobinuria with Inadequate Control of Intravascular Hemolysis on Currently Available C5 Inhibitor Therapy
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·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 Rh deficiency syndrome — 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.
("Rh deficiency syndrome" OR "Rh-null syndrome" OR "anemia, hemolytic, Rh-null, regulator type") OR (MESH:"Rh Deficiency Syndrome") OR ("RHAG" OR "RHAG syndrome" OR "RHAG-related" OR "RHCE" OR "RHCE syndrome" OR "RHCE-related")MeSH descriptor terms unioned into the query: Rh Deficiency Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rh deficiency syndrome" OR "Rh-null syndrome" OR "anemia, hemolytic, Rh-null, regulator type"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2258) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T01:40:15.340Z