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ORPHA:169464

Primary CD59 deficiency

high confidenceDisorder

Publications

7

21.7th percentile

Trials

1

Interventional, condition-specific

Researchers

37

Distinct authors in sample

Gene link

CD59

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

primary CD59 deficiency

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.

  1. Gene identifiedPresent

    Strong — CD59

  2. LiteraturePresent

    7 matched papers (6 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (CD59).

GenCC classification: Strong.

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?

7

7 papers have ever been indexed 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.

7 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).

6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)

Phrase hits: 5 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

37

Distinct author names in 7 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.

  1. 01
    Eshed-Eisenbach Y2 papers · 2023

    Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

    Papers in Europe PMC
  2. 02
    Karbian N2 papers · 2023

    Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

    Papers in Europe PMC
  3. 03
    Mevorach D2 papers · 2023

    Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

    Papers in Europe PMC
  4. 04
    Morgan BP2 papers · 2023

    Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

    Papers in Europe PMC
  5. 05
    Peles E2 papers · 2023

    Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

    Papers in Europe PMC
  6. 06
    Tabib A2 papers · 2023

    Rheumatology Research Center (N.K., A.T., H.H., D.M.), Center of Rare Diseases, and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem; The Weizmann Institute (Y.E.-E., E.P.), Rehovot, Israel; Systems Immunity Research Institute (B.P.M.), Cardiff University, Cardiff, Wales, UK; and Hebrew University (O.S.-F., D.M.), Jerusalem, Israel.

    Papers in Europe PMC
  7. 07
    Ali AK1 paper · 2023

    From King Hamad University Hospital (Almutawea), Busaiteen, Bahrain, and from the Department of Pediatrics and Neonatology (Almutawea), Department of Genetic (Al Hajeri, Bushail), Department of Pathology (Farid), Department of Neuroscience (Ali), Salmaniya Medical Complex, Manama, Bahrain.

    Papers in Europe PMC
  8. 08
    Almutawea LM1 paper · 2023

    From King Hamad University Hospital (Almutawea), Busaiteen, Bahrain, and from the Department of Pediatrics and Neonatology (Almutawea), Department of Genetic (Al Hajeri, Bushail), Department of Pathology (Farid), Department of Neuroscience (Ali), Salmaniya Medical Complex, Manama, Bahrain.

    Papers in Europe PMC
  9. 09
    Avgerinos K1 paper · 2020

    Laboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health (NIA/NIH), Baltimore, MD 21224, USA.

    Papers in Europe PMC
  10. 10
    Bushail MY1 paper · 2023

    From King Hamad University Hospital (Almutawea), Busaiteen, Bahrain, and from the Department of Pediatrics and Neonatology (Almutawea), Department of Genetic (Al Hajeri, Bushail), Department of Pathology (Farid), Department of Neuroscience (Ali), Salmaniya Medical Complex, Manama, Bahrain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 observational studies match 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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Primary CD59 deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: CD59 Deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Primary CD59 deficiency" OR "CD59 Deficiency" OR "CD59"

Recall-expansion terms: CD59

Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

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 2026-07-27T08:37:12.011Z