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properdin deficiency, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

properdin deficiency, X-linked

MONDO:0010713

Also known as:properdin deficiency, X-linked, X-linked recessiveCFPDPFD

Overview

A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.

GeneticsX-linked · CFP (chr X)

Clinical Presentation

Features include: Dysfunctional alternative complement pathway and Abnormality of metabolism/homeostasis.

Organ System	Phenotype Count	Example Features
Metabolism	1	Abnormality of metabolism/homeostasis

Explore clinical features

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.

CFP encodes complement factor properdin (469 aa). A positive regulator of the alternate pathway (AP) of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes. Highest expression in Whole Blood (232.1 TPM) and Spleen (114.7 TPM).

Properdin deficiency, X-linked is associated with mutations in the CFP gene on chromosome X.

CFP is classified as a druggable target (Cell Surface, Druggable Genome, and Enzyme categories) with score 0.0.

Diagnosis

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:312060

Orphanet

European rare disease database

Orphanet:2966

GARD

Genetic and Rare Diseases Info Center

GARD:4513

Questions for Your Care Team

→Should female family members consider carrier screening for CFP?
→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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properdin deficiency, X-linked

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team