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primary CD59 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary CD59 deficiency

MONDO:0012858

Also known as:CD59 deficiencyHACD59hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy

Overview

GeneticsAutosomal recessive · CD59 (chr 11)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Skeletal muscle atrophy, Polyneuropathy, Low muscle tone (hypotonia), and Paroxysmal nocturnal hemoglobinuria and 6 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Skeletal muscle atrophy, Low muscle tone (hypotonia), Generalized hypotonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CD59 encodes CD59 molecule (CD59 blood group) (128 aa). Potent inhibitor of the complement membrane attack complex (MAC) action, which protects human cells from damage during complement activation. Highest expression in Cells Cultured fibroblasts (804.7 TPM) and Nerve Tibial (732.2 TPM).

Primary CD59 deficiency is associated with mutations in the CD59 gene on chromosome 11.

The CD59 protein participates in CD59 inhibits MAC formation and TMED2:TMED10 tetramer:GPI-CD59, GPI-FOLR1 pathways.

CD59 is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 26.1.

Diagnosis

Genetic testing for CD59 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary CD59 deficiency has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for primary CD59 deficiency.

138 publications have been identified in PubMed for primary CD59 deficiency. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Research summaries	55	40%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612300

Orphanet

European rare disease database

Orphanet:169464

GARD

Genetic and Rare Diseases Info Center

GARD:17054

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

primary CD59 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for Patients with Inborn Errors of Immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC).

primary CD59 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for Patients with Inborn Errors of Immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC).