MCID: PRP038
MIFTS: 30

Properdin Deficiency, X-Linked

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Properdin Deficiency, X-Linked

MalaCards integrated aliases for Properdin Deficiency, X-Linked:

Name: Properdin Deficiency, X-Linked 57 53 29 13 6 40 73
Pfd 57 53 75
Properdin P Factor Deficiency 57 53
Properdin Deficiency 59 75
Complement Factor Properdin Deficiency 57
Properdin P Factor Deficiency; Pfd 57
Properdin Deficiency, Type I 57
Properdin Deficiency, Type 1 53
Properdin Deficiency Disease 73
Cfpd 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
increased susceptibility to neisseria infections


HPO:

32
properdin deficiency, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 312060
Orphanet 59 ORPHA2966
MESH via Orphanet 45 C537241
UMLS via Orphanet 74 C0398762 C1839454
ICD10 via Orphanet 34 D84.1

Summaries for Properdin Deficiency, X-Linked

OMIM : 57 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). (312060)

MalaCards based summary : Properdin Deficiency, X-Linked, also known as pfd, is related to properdin deficiency and mccune-albright syndrome. An important gene associated with Properdin Deficiency, X-Linked is CFP (Complement Factor Properdin). Affiliated tissues include monocytes, testes and small intestine, and related phenotypes are abnormality of metabolism/homeostasis and dysfunctional alternative complement pathway

UniProtKB/Swiss-Prot : 75 Properdin deficiency: Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III).

Related Diseases for Properdin Deficiency, X-Linked

Diseases related to Properdin Deficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 properdin deficiency 12.4
2 mccune-albright syndrome 11.0
3 fundus dystrophy, pseudoinflammatory, recessive form 11.0
4 pseudoinflammatory fundus dystrophy 11.0
5 pancreatitis 10.1
6 neisseria meningitidis infection 10.0
7 pancreatic agenesis 1 9.9
8 meningococcal infection 9.9
9 meningococcemia 9.9
10 otitis media 9.8
11 glomerulonephritis 9.8
12 neutropenia 9.8
13 paroxysmal nocturnal hemoglobinuria 9.8
14 mucositis 9.8
15 iga glomerulonephritis 9.8
16 pneumonia 9.8
17 hemoglobinuria 9.8
18 lupus erythematosus 9.8
19 bronchiectasis 9.8
20 c3 glomerulopathy 9.8
21 47, xxy 9.8
22 discoid lupus erythematosus 9.8

Graphical network of the top 20 diseases related to Properdin Deficiency, X-Linked:



Diseases related to Properdin Deficiency, X-Linked

Symptoms & Phenotypes for Properdin Deficiency, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Immunology:
deficiency of properdin p factor
dysfunctional alternative complement pathway

Laboratory Abnormalities:
deficiency of serum properdin p factor


Clinical features from OMIM:

312060

Human phenotypes related to Properdin Deficiency, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 dysfunctional alternative complement pathway 32 HP:0005423

Drugs & Therapeutics for Properdin Deficiency, X-Linked

Search Clinical Trials , NIH Clinical Center for Properdin Deficiency, X-Linked

Genetic Tests for Properdin Deficiency, X-Linked

Genetic tests related to Properdin Deficiency, X-Linked:

# Genetic test Affiliating Genes
1 Properdin Deficiency, X-Linked 29 CFP

Anatomical Context for Properdin Deficiency, X-Linked

MalaCards organs/tissues related to Properdin Deficiency, X-Linked:

41
Monocytes, Testes, Small Intestine, Bone

Publications for Properdin Deficiency, X-Linked

Articles related to Properdin Deficiency, X-Linked:

(show all 36)
# Title Authors Year
1
Properdin deficiency protects from 5-fluorouracil induced small intestinal mucositis in a complement activation independent, IL-10 dependent mechanism. ( 28052346 )
2017
2
Properdin deficiency-associated bronchiectasis. ( 24793003 )
2014
3
Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. ( 23204401 )
2013
4
A novel mutation W388X underlying properdin deficiency in a Finnish family. ( 22229731 )
2012
5
Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. ( 19328743 )
2009
6
Properdin deficiency in murine models of nonseptic shock. ( 18453618 )
2008
7
Properdin deficiency in a boy with fulminant meningococcal septic shock. ( 17062484 )
2006
8
Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n). ( 10540191 )
1999
9
Properdin deficiency and meningococcal disease--identifying those most at risk. ( 10540177 )
1999
10
Properdin deficiency: molecular basis and disease association. ( 10698340 )
1999
11
Properdin deficiency: rare presentation with meningococcal bone and joint infections. ( 9576400 )
1998
12
Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations. ( 9710744 )
1998
13
Human properdin deficiency has a heterogeneous genetic background. ( 9476131 )
1997
14
Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. ( 8871668 )
1996
15
Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. ( 8530058 )
1995
16
[Partial properdin deficiency revealed by a septicemia caused by Neisseria meningitidis]. ( 7501623 )
1995
17
Recurrent meningococcal septicaemia and properdin deficiency. ( 8522838 )
1995
18
Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite. ( 7576715 )
1995
19
Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity. ( 8045746 )
1994
20
Hereditary properdin deficiency in three families of Tunisian Jews. ( 8241670 )
1993
21
Carrier detection in families with properdin deficiency by microsatellite haplotyping. ( 8423238 )
1993
22
Linkage analysis in properdin deficiency families: refined location in proximal Xp. ( 1516231 )
1992
23
Granulocyte functions and Neisseria meningitidis: influence of properdin-deficient serum. ( 1958352 )
1991
24
Complement and immunoglobulin studies in 15 cases of chronic meningococcemia: properdin deficiency and hypoimmunoglobulinemia. ( 2320962 )
1990
25
Familial properdin deficiency associated with chronic discoid lupus erythematosus. ( 2736801 )
1989
26
Another Swedish family with complete properdin deficiency: association with fulminant meningococcal disease in one male family member. ( 2502833 )
1989
27
Properdin deficiency. ( 2891989 )
1988
28
Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome. ( 2900806 )
1988
29
A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. ( 3141111 )
1988
30
Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination. ( 3102964 )
1987
31
Congenital properdin deficiency and meningococcal infection. ( 3608246 )
1987
32
Properdin deficiency in a family with fulminant meningococcal infections. ( 7151327 )
1982
33
Properdin deficiency with IgA nephropathy. ( 7278936 )
1981
34
Partial properdin deficiency. ( 6903190 )
1980
35
46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency. ( 957385 )
1976
36
Paroxysmal nocturnal hemoglobinuria: a case report with a negative Ham presumptive test associated with serum properdin deficiency. ( 13584477 )
1958

Variations for Properdin Deficiency, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Properdin Deficiency, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 CFP p.Arg100Trp VAR_002002 rs132630259
2 CFP p.Gln343Arg VAR_002003
3 CFP p.Tyr414Asp VAR_002004 rs132630261
4 CFP p.Gly298Val VAR_013139 rs28935480

ClinVar genetic disease variations for Properdin Deficiency, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFP NM_002621.2(CFP): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs132630258 GRCh37 Chromosome X, 47486963: 47486963
2 CFP NM_002621.2(CFP): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs132630258 GRCh38 Chromosome X, 47627564: 47627564
3 CFP NM_002621.2(CFP): c.893G> T (p.Gly298Val) single nucleotide variant Pathogenic rs28935480 GRCh37 Chromosome X, 47486219: 47486219
4 CFP NM_002621.2(CFP): c.893G> T (p.Gly298Val) single nucleotide variant Pathogenic rs28935480 GRCh38 Chromosome X, 47626820: 47626820
5 CFP NM_002621.2(CFP): c.617C> G (p.Ser206Ter) single nucleotide variant Pathogenic rs132630260 GRCh37 Chromosome X, 47486689: 47486689
6 CFP NM_002621.2(CFP): c.617C> G (p.Ser206Ter) single nucleotide variant Pathogenic rs132630260 GRCh38 Chromosome X, 47627290: 47627290

Expression for Properdin Deficiency, X-Linked

Search GEO for disease gene expression data for Properdin Deficiency, X-Linked.

Pathways for Properdin Deficiency, X-Linked

GO Terms for Properdin Deficiency, X-Linked

Sources for Properdin Deficiency, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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73 UMLS
74 UMLS via Orphanet
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