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type I complement component 8 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

type I complement component 8 deficiency

MONDO:0013422

Also known as:C8 deficiency, type IC8A classic complement early component deficiencyclassic complement early component deficiency caused by mutation in C8A

Overview

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.

GeneticsAutosomal recessive · C8A (chr 1)

Clinical Presentation

Features include: Meningitis, Decreased circulating complement C8 concentration, and Systemic lupus erythematosus.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Meningitis
Skin	1	Systemic lupus erythematosus

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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.

C8A encodes complement C8 alpha chain (584 aa). Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis. Highest expression in Liver (274.1 TPM) and Kidney Medulla (0.2 TPM).

Type I complement component 8 deficiency is associated with mutations in the C8A gene on chromosome 1.

C8A is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for C8A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for type I complement component 8 deficiency has been reported in the published literature.

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 type I complement component 8 deficiency.

11 publications have been identified in PubMed for type I complement component 8 deficiency. Research spans Basic Science / Preclinical (64%), Case Report / Case Series (18%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Laboratory research	7	64%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613790

GARD

Genetic and Rare Diseases Info Center

GARD:10626

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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type I complement component 8 deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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