Properdin deficiency, X-linked

Preferred Label : Properdin deficiency, X-linked;

Symbol : CFPD;

CISMeF acronym : CFPD; PFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Properdin p factor deficiency; Complement factor properdin deficiency; Properdin deficiency, type I; PFD;

Included titles and symbols : Properdin deficiency, type II; Properdin deficiency, type III;

Description : Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the properdin P factor gene (PFC, 300383.0001);

Laboratory abnormalities : Deficiency of serum properdin P factor;

Prefixed ID : #312060;

Details

Origin ID

312060;

UMLS CUI

C1839454;

Automatic exact mappings (from CISMeF team)
- CFD wt Allele [NCIt concept]
- CFP wt Allele [NCIt concept]
- Polyostotic fibrous dysplasia [ICD-11 More detail]
- X-linked properdin deficiency [DO Concept]
- properdin deficiency, type II [MeSH concept]
- properdin deficiency, type II [MeSH Supplementary Concept]
- properdin deficiency, type III [MeSH concept]
- properdin deficiency, type III [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Immunodeficiency with properdin deficiency [ICD-11 More detail]
- Properdin deficiency [ORDO Disease]
- Properdin deficiency disease (disorder) [SNOMED CT concept]
- Properdin deficiency, X-linked [MeSH concept]
- properdin deficiency disease [SNOMED Notion]
- properdin deficiency, X-linked [MeSH Supplementary Concept]
DO Cross reference
- X-linked properdin deficiency [DO Concept]
Genes related to phenotype
- Complement factor properdin [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Dysfunctional alternative complement pathway [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Properdin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Properdin deficiency, X-linked [MeSH concept]
- properdin deficiency, X-linked [MeSH Supplementary Concept]

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