Properdin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PROPERDIN DEFICIENCY, TYPE I PROPERDIN DEFICIENCY, TYPE II, INCLUDED
COMPLEMENT FACTOR PROPERDIN DEFICIENCY
PROPERDIN DEFICIENCY, TYPE III, INCLUDED
PROPERDIN P FACTOR DEFICIENCY
CFPD
PFD
Number of Symptoms 5
OrphanetNr: 2966
OMIM Id: 312060
ICD-10: D84.1
UMLs: C0398762
MeSH: C537241
MedDRA:
Snomed: 81166004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Immunodeficiency due to a complement cascade protein anomaly
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(HPO:0005423) Dysfunctional alternative complement pathway 1 / 7739
3
(OMIM) Deficiency of serum properdin P factor 1 / 7739
4
(HPO:0001419) X-linked recessive inheritance 189 / 7739
5
(OMIM) Deficiency of properdin P factor 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM In a brother and maternal uncle of the 2 brothers first mentioned by Densen et al. (1987), properdin deficiency was found by laboratory tests. Unaffected male relatives showed properdin antigen levels averaging 128.0 ELISA units/ml whereas 5 obligate ...
Clinical Description OMIM Sjoholm et al. (1982) described a kindred in which 3 males, each in a different sibship (2 maternal first cousins and a maternal uncle of both), were shown to have a selective deficiency of properdin. One of the ...
Molecular genetics OMIM Westberg et al. (1995) used direct solid-phase sequencing of the PFC gene to identify point mutations in type I (300383.0001) and type II (300383.0002) properdin deficiency defined as absent or low serum properdin, respectively. In a Dutch family, ...
Population genetics OMIM In a study of complement deficiencies among patients with meningococcal disease in Israel, Schlesinger et al. (1990) observed properdin deficiency only in Sephardic Jews of Tunisian origin. A pedigree pattern consistent with X-linked recessive inheritance was described. ...