Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include sometimes findings: Membranoproliferative glomerulonephritis and Systemic lupus erythematosus. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Autoimmunity, Recurrent infections |
C1QA encodes complement C1q A chain (245 aa). Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. Highest expression in Spleen (1,383 TPM) and Lung (363.8 TPM).
C1Q deficiency 1 is associated with mutations in the C1QA gene on chromosome 1.
The C1QA protein participates in C1Q subunit (C1QA:C1QB:C1QC heterotrimer) pathway.
C1QA is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 52.2.
Genetic testing for C1QA is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for C1Q deficiency 1 has been reported in the published literature.
No clinical trials have been registered for C1Q deficiency 1.
39 publications have been identified in PubMed for C1Q deficiency 1. Research spans Basic Science / Preclinical (64%), Case Report / Case Series (18%), and Epidemiology / Natural History (10%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 25 | 64% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:12 PM UTC
Online Mendelian Inheritance in Man
Common questions about C1Q deficiency 1
1 |
Membranoproliferative glomerulonephritis |
Skin | 1 | Systemic lupus erythematosus |
7 |
18% |
Disease patterns and progression | 4 | 10% |
Clinical study results | 2 | 5% |
Testing and diagnosis research | 1 | 3% |
H Ibraheim M (2026). [PMID: 42117492](https://pubmed.ncbi.nlm.nih.gov/42117492/). *J Biomol Struct Dyn*. [Basic Science / Preclinical]
Perez-Toledo M (2026). [PMID: 41738756](https://pubmed.ncbi.nlm.nih.gov/41738756/). *mBio*. [Case Report / Case Series]
Jiang Q (2026). [PMID: 41907518](https://pubmed.ncbi.nlm.nih.gov/41907518/). *Gut Microbes Rep*. [Basic Science / Preclinical]
Bianchi C (2026). [PMID: 41807955](https://pubmed.ncbi.nlm.nih.gov/41807955/). *Pediatr Rheumatol Online J*. [Case Report / Case Series]
Han S (2026). [PMID: 41485053](https://pubmed.ncbi.nlm.nih.gov/41485053/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Basic Science / Preclinical]
Bicho D (2026). [PMID: 41876981](https://pubmed.ncbi.nlm.nih.gov/41876981/). *Mol Med*. [Basic Science / Preclinical]
Andersh KM (2026). [PMID: 41728092](https://pubmed.ncbi.nlm.nih.gov/41728092/). *Frontiers in aging neuroscience*. [Basic Science / Preclinical]
Lan H (2026). [PMID: 42106020](https://pubmed.ncbi.nlm.nih.gov/42106020/). *Genet Res (Camb)*. [Basic Science / Preclinical]
Fan H (2026). [PMID: 41568145](https://pubmed.ncbi.nlm.nih.gov/41568145/). *iScience*. [Basic Science / Preclinical]
Tuncer E (2026). [PMID: 41929519](https://pubmed.ncbi.nlm.nih.gov/41929519/). *Front Immunol*. [Basic Science / Preclinical]