Complement factor I deficiency

Preferred Label : Complement factor I deficiency;

Symbol : CFID;

CISMeF acronym : CFID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C3 inactivator deficiency; Complement component 3 inactivator deficiency; C3G2; C3 glomerulopathy 2;

Description : Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). See also complement factor H deficiency (609814), which shows overlapping clinical features.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement factor I gene (CFI, 217030.0001);

Prefixed ID : #610984;

Details

Origin ID

610984;

UMLS CUI

C3463916;

Currated CISMeF NLP mapping
- Deficiency factor I [MedDRA LLT]
- Factor I Deficiency [NCIt concept]
- Factor I deficiency [MedDRA Preferred Term]
- Factor I deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with factor I anomaly [ICD-11 More detail]
- Immunodeficiency with factor I anomaly [ORDO Disease]
- Immunodeficiency with factor I anomaly (disorder) [SNOMED CT concept]
- blood clotting factor i deficiency [Disease (Nov.)]
- complement factor I deficiency [DO Concept]
- complement factor I deficiency [MeSH concept]
- complement factor I deficiency [MeSH Supplementary Concept]
DO Cross reference
- complement factor I deficiency [DO Concept]
Genes related to phenotype
- Complement factor I [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased serum complement C3 [HPO term]
- Decreased serum complement factor B [HPO term]
- Decreased serum complement factor H [HPO term]
- Decreased serum complement factor I [HPO term]
- Glomerulonephritis [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Pyelonephritis [HPO term]
- Recurrent Haemophilus influenzae infections [HPO term]
- Recurrent meningitis [HPO term]
- Recurrent meningococcal disease [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent skin infections [HPO term]
- Recurrent streptococcus pneumoniae infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal insufficiency [HPO term]
- Septic arthritis [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Immunodeficiency with factor I anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor I deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with factor I anomaly [ORDO Disease]
- complement factor I deficiency [MeSH Supplementary Concept]
- complement factor I deficiency [MeSH concept]
- complement factor I deficiency [DO Concept]

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