ORPHA:566175
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Also known as: CD55 deficiency · CHAPLE syndrome
Publications
188
74.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,143
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed.
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.
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
188 matched papers (151 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
188
188 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.
188 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).
151 in the last 10 years · high confidence · 74.1th percentile (publications denominator)
Phrase hits: 188 · MeSH hits: 0
Who's working on it?
1,143
Distinct author names in 188 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.
- 01Ozen A12 papers · 2026
Division of Allergy and Immunology, Department of Pediatrics, School of Medicine, Marmara University, Istanbul, Turkey. ahmet.ozen@marmara.edu.tr.
Papers in Europe PMC - 02Brodsky RA10 papers · 2026
Division of Hematology, Johns Hopkins Department of Medicine, Johns Hopkins University, Ross Research Building, Room 1025, 720 Rutland Avenue, Baltimore, Maryland 21205, USA.
Papers in Europe PMC - 03Lenardo MJ8 papers · 2025
Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States; Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, United States. Electronic address: mlenardo@niaid.nih.gov.
Papers in Europe PMC - 04Kurolap A7 papers · 2025
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel.
Papers in Europe PMC - 05Klein C5 papers · 2025
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Papers in Europe PMC - 06Baris Feldman H4 papers · 2023
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: hagitbf@tlvmc.gov.il.
Papers in Europe PMC - 07Baris S4 papers · 2026
Division of Allergy and Immunology, Department of Pediatrics, School of Medicine, Marmara University, Istanbul, Turkey.
Papers in Europe PMC - 08Can S4 papers · 2026
Division of Allergy and Immunology, Department of Pediatrics, School of Medicine, Marmara University, Istanbul, Türkiye.
Papers in Europe PMC - 09Casanova JL4 papers · 2020
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Papers in Europe PMC - 10Cunningham-Rundles C4 papers · 2025
Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, NewYork, NY, USA.
Papers 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.
high 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.
"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome" OR "CD55 deficiency" OR "CHAPLE syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome" OR "CD55 deficiency" OR "CHAPLE syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-27T18:25:42.368Z