Complement factor D deficiency

Preferred Label : Complement factor D deficiency;

Symbol : CFDD;

CISMeF acronym : CFDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Factor D deficiency;

Description : Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement factor D gene (CFD, 134350.0001);

Laboratory abnormalities : Decreased complement factor D; Decreased activity of complement factor D;

Prefixed ID : #613912;

Details

Origin ID

613912;

UMLS CUI

C0398764;

Automatic exact mappings (from CISMeF team)
- Factor X deficiency [PASCAL descriptor]
- Recurrent Neisseria infections due to factor D deficiency [ORDO Disease]
- factor v deficiency [MeSH Descriptor]
- factor x deficiency [MeSH Descriptor]
- hypoprothrombinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Factor D deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with factor D anomaly [ICD-11 Sub-sub category]
- complement factor D deficiency [MeSH concept]
- complement factor D deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Complement factor D [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Complement deficiency [HPO term]
- Recurrent bacterial infections [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Recurrent Neisseria infections due to factor D deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor D deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with factor D anomaly [ICD-11 Sub-sub category]
- Recurrent Neisseria infections due to factor D deficiency [ORDO Disease]
- complement factor D deficiency [MeSH Supplementary Concept]
- complement factor D deficiency [MeSH concept]

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