Complement component 3 deficiency, autosomal recessive

Preferred Label : Complement component 3 deficiency, autosomal recessive;

Symbol : C3D;

CISMeF acronym : C3D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C3 deficiency, autosomal recessive;

Description : The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in the upper and lower respiratory tract, including pneumonia, episodes of sinusitis, tonsillitis, and otitis, are the most frequent consequence of the C3 deficiency. Approximately 26% of patients with C3 deficiency develop immune complex-mediated autoimmune diseases resembling systemic lupus erythematosus (see 152700), and about 26% of patients develop mesangiocapillary or membranoproliferative glomerulonephritis, resulting in renal failure (summary by Reis et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component 3 gene (C3, 120700.0001);

Laboratory abnormalities : Decreased C3 activity; Decreased C3 antigen;

Prefixed ID : #613779;

Details

Origin ID

613779;

UMLS CUI

C3151071;

Automatic exact mappings (from CISMeF team)
- Complement C3d [NCIt concept]
- Lymphocyte antigen CD21 (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- C3D Format [NCIt concept]
- Complement component 3 deficiency [ORDO Disease]
- complement component 3 deficiency [DO Concept]
- complement component 3 deficiency, autosomal recessive [MeSH concept]
- complement component 3 deficiency, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- complement component 3 deficiency [DO Concept]
Genes related to phenotype
- Complement component 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased serum complement C3 [HPO term]
- Membranoproliferative glomerulonephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Recurrent bacterial infections [HPO term]
- Renal insufficiency [HPO term]
- Systemic lupus erythematosus [HPO term]
ORDO concept(s)
- Complement component 3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement component 3 deficiency [ORDO Disease]
- complement component 3 deficiency, autosomal recessive [MeSH Supplementary Concept]
- complement component 3 deficiency, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- C3 Deficiency [NCIt concept]
- Complement component 3 deficiency (disorder) [SNOMED CT concept]

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