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 always present findings: Discoid lupus rash, Recurrent bacterial meningitis, Antinuclear antibody positivity, and Decreased circulating C1q concentration; and common findings: Neonatal omphalitis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Discoid lupus rash |
C1QC encodes complement C1q C 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 (1,196 TPM) and Lung (299.3 TPM).
C1Q deficiency 3 is associated with mutations in the C1QC gene on chromosome 1.
C1QC is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 0.6.
Genetic testing for C1QC is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 1 common feature.
No clinical trials have been registered for C1Q deficiency 3.
18 publications have been identified in PubMed for C1Q deficiency 3. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (22%), and Clinical Trial Publication (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 50% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC
Online Mendelian Inheritance in Man
Common questions about C1Q deficiency 3
1 |
Recurrent bacterial meningitis |
Lab test results | 1 | Antinuclear antibody positivity |
Pregnancy and birth | 1 | Neonatal omphalitis |
4 |
22% |
Clinical study results | 3 | 17% |
Research summaries | 1 | 6% |
Disease patterns and progression | 1 | 6% |
Bianchi C (2026). [PMID: 41807955](https://pubmed.ncbi.nlm.nih.gov/41807955/). *Pediatr Rheumatol Online J*. [Case Report / Case Series]
Mottaghipisheh H (2026). [PMID: 42147803](https://pubmed.ncbi.nlm.nih.gov/42147803/). *Case Reports Immunol*. [Case Report / Case Series]
Jiang Q (2026). [PMID: 41907518](https://pubmed.ncbi.nlm.nih.gov/41907518/). *Gut Microbes Rep*. [Basic Science / Preclinical]
Haque I (2025). [PMID: 40556690](https://pubmed.ncbi.nlm.nih.gov/40556690/). *Rheumatology advances in practice*. [Clinical Trial Publication]
Arslanoglu Aydin E (2025). [PMID: 39843834](https://pubmed.ncbi.nlm.nih.gov/39843834/). *Clinical rheumatology*. [Case Report / Case Series]
Tian X (2025). [PMID: 40793975](https://pubmed.ncbi.nlm.nih.gov/40793975/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Basic Science / Preclinical]
Al-Mayouf SM (2025). [PMID: 41170730](https://pubmed.ncbi.nlm.nih.gov/41170730/). *Lupus*. [Case Report / Case Series]
Peristeri AM (2025). [PMID: 40981122](https://pubmed.ncbi.nlm.nih.gov/40981122/). *Reports (MDPI)*. [Case Report / Case Series]
Parlar K (2025). [PMID: 40316395](https://pubmed.ncbi.nlm.nih.gov/40316395/). *Reumatologia clinica*. [Case Report / Case Series]
Jiao M (2024). [PMID: 39109334](https://pubmed.ncbi.nlm.nih.gov/39109334/). *Frontiers in genetics*. [Epidemiology / Natural History]