C3 Deficiency - CISMeF

Preferred Label : C3 Deficiency;

NCIt definition : A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.;

Alternative definition : NICHD: Lack of production of functional C3 protein, due to a genetic defect. Patients present at an early age with overwhelming infections with encapsulated bacteria. Patients may also present with systemic lupus erythematosus, autoimmune glomerulonephritis, or juvenile idiopathic arthritis-like syndromes.;

Details

Origin ID

C9468;

UMLS CUI

C1332655;

Currated CISMeF NLP mapping
- Complement 3 deficiency (disorder) [SNOMED CT concept]
- Complement component 3 deficiency [ORDO Disease]
- Complement component 3 deficiency (disorder) [SNOMED CT concept]
- complement component 3 deficiency [DO Concept]
DO Cross reference
- complement component 3 deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement component 3 deficiency (disorder) [SNOMED CT concept]
- complement component 3 deficiency [DO Concept]
Validated automatic mappings to BTNT
- Complement component 3 deficiency, autosomal recessive [OMIM Phenotype]
- complement component 3 deficiency, autosomal recessive [MeSH concept]
- complement component 3 deficiency, autosomal recessive [MeSH Supplementary Concept]
associated_with_malfunction_of_gene_product
- Complement C3 [NCIt concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_has_associated_gene
- C3 Gene [NCIt concept]
- C3 wt Allele [NCIt concept]
disease_mapped_to_gene
- C3 Gene [NCIt concept]
related_to_genetic_biomarker
- C3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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