ORPHA:71275
Rh deficiency syndrome
Also known as: Rh-null syndrome
Publications
43
32th percentile
Trials
0
Interventional, condition-specific
Researchers
204
Distinct authors in sample
Gene link
RHAG, RHCE
Definitive
Readiness
2/6
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.”
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
Definitive — RHAG, RHCE
- LiteraturePresent
43 matched papers (14 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 (RHAG, RHCE).
GenCC classification: Definitive.
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?
43
43 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.
43 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).
14 in the last 10 years · medium confidence · 32th percentile (publications denominator)
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 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.
"Rh deficiency syndrome" OR "Rh-null syndrome" OR "anemia, hemolytic, Rh-null, regulator type"
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" OR "RHAG" OR "RHCE"
Recall-expansion terms: RHAG, RHCE
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T01:40:15.340Z