Complement deficiency

Summary

Complement deficiency (MONDO:0003832) is a disease (an umbrella term covering 8 Mondo subtypes) whose subtypes are caused by variants in CFI, C3, C1QA, and 17 other genes. It is a genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited (Mondo). This page aggregates 1 registered clinical trial. A subtype of inborn error of immunity — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• Clinical trials: 1

Clinical features

Clinical description

Mondo: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.

Identifiers

Disease identifiers

Field	Value
Canonical name	complement deficiency
Mondo ID	MONDO:0003832
Orphanet	459345
DOID	DOID:626
NCIT	C4691
SNOMED CT	24743004
UMLS	C0272242
MedGen	82898
Is cancer (heuristic)	no

Also known as: complement activation disease · complement deficiency · disorder of complement activation · immunodeficiency due to a complement cascade component deficiency

Disease family

This is a subtype of inborn error of immunity. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level. The broader term carries 13 cohort genes, 48 clinical trials, 3 approved drugs — aggregated across all inborn error of immunity, not specific to this subtype. See the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › inborn error of immunity › complement deficiency Also classified under: immunodeficiency disease

Sibling subtypes (40): B cell deficiency, phagocyte bactericidal dysfunction, trichohepatoenteric syndrome, hepatic veno-occlusive disease-immunodeficiency syndrome, immunodeficiency with defective T-cell response to interleukin 1, Say-Barber-Miller syndrome, familial isolated congenital asplenia, X-linked immunoneurologic disorder, ectodermal dysplasia and immune deficiency, immunodeficiency 33, immunodeficiency 47, combined immunodeficiency due to moesin deficiency, properdin deficiency, X-linked, combined immunodeficiency with faciooculoskeletal anomalies, recurrent infections associated with rare immunoglobulin isotypes deficiency, immunodeficiency 28, autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity, immunodeficiency 37, immunodeficiency 39, BENTA disease, … (+20 more under inborn error of immunity)

Subtypes (8): complement factor I deficiency, recurrent Neisseria infections due to factor D deficiency, immunodeficiency due to a late component of complement deficiency, atypical hemolytic-uremic syndrome, … (+4 more)

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated or in trials for this disease

This subtype has no disease-direct ChEMBL indication of its own. The drugs below are recorded at the broader parent-term level (inborn error of immunity) — not specific to this subtype.

1 approved drug for inborn error of immunity (parent-term ChEMBL indications):

Drug	Status
Human Immunoglobulin G	Approved (phase 4)

8 drugs in trials for inborn error of immunity (phase 2–3, investigational):

Drug	Highest phase
Anise Oil	Phase 2
Busulfan	Phase 2
Fludarabine	Phase 2
Licorice	Phase 2
Mycophenolate Mofetil	Phase 2
Omega-3 Fatty Acids	Phase 2
Quinine	Phase 2
Sirolimus	Phase 2

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

1 trials:

NCT	Phase	Status	Sponsor	Title
NCT02972281	Not specified	COMPLETED	University Hospital, Lille	Systematic Search for Primary Immunodeficiency in Adults With Infections

Other drugs named in trials

Drugs named in these trials’ interventions but not in the ChEMBL table above — includes investigational drugs not yet in ChEMBL. Linked where an Atlas drug page exists.

1 drugs named in trials:

Drug	Max trial phase
Immunological diagnosis tests	Not specified