C1Q deficiency 1 | Kisho | Kisho

C1Q deficiency 1

Rare Disease

MONDO:0958182

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Feb 7, 2026

Associated Genes

1 gene

C1QA

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Recessive

Inheritance patterns describe how genetic conditions are passed from parents to children.

Associated Genes

1 gene

C1QA

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Recessive

Inheritance patterns describe how genetic conditions are passed from parents to children.

Overview

C1Q deficiency 1 is a rare condition documented in the OMIM database (OMIM:613652). It is associated with the C1QA gene, which suggests that the immune system may be involved. Detailed information regarding the full range of clinical features and description of the condition is currently limited for this condition.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is linked to the C1QA gene. The available information indicates that changes in this gene are associated with C1Q deficiency 1. However, more details about the exact genetic mechanisms and risk factors have not been well established in the public sources.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research is currently limited for this condition.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

1 gene

C1QA

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Recessive

Inheritance patterns describe how genetic conditions are passed from parents to children.

Treatment

Support

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613652

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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C1Q deficiency 1

Patient-Friendly Information

Associated Genes

Inheritance Pattern

Associated Genes

Inheritance Pattern

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Inheritance Pattern

Treatment

Support

External Resources

OMIM

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?