MCID: PRP033
MIFTS: 13

Properdin Deficiency

Categories: Rare diseases

Aliases & Classifications for Properdin Deficiency

MalaCards integrated aliases for Properdin Deficiency:

Name: Properdin Deficiency 20
Properdin Deficiency Disease 70

Classifications:



External Ids:

UMLS 70 C0398762

Summaries for Properdin Deficiency

MalaCards based summary : Properdin Deficiency, also known as properdin deficiency disease, is related to properdin deficiency, x-linked and neisseria meningitidis infection. An important gene associated with Properdin Deficiency is CFP (Complement Factor Properdin). Affiliated tissues include monocytes.

Wikipedia : 73 Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor... more...

Related Diseases for Properdin Deficiency

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 properdin deficiency, x-linked 11.8
2 neisseria meningitidis infection 10.4
3 meningococcal infection 10.3
4 bacterial infectious disease 10.0
5 complement deficiency 10.0
6 meningococcemia 10.0
7 otitis media 9.9
8 immune deficiency disease 9.9
9 disease by infectious agent 9.9
10 paroxysmal nocturnal hemoglobinuria 9.9
11 meningococcal meningitis 9.9
12 mucositis 9.9
13 neutropenia 9.9
14 toxic shock syndrome 9.9
15 ectodermal dysplasia 9.9
16 agammaglobulinemia 9.9
17 glomerulonephritis 9.9
18 iga glomerulonephritis 9.9
19 hemoglobinuria 9.9
20 bacterial meningitis 9.9
21 meningitis 9.9
22 bronchiectasis 9.9
23 c3 glomerulopathy 9.9
24 dense deposit disease 9.9
25 discoid lupus erythematosus 9.9

Graphical network of the top 20 diseases related to Properdin Deficiency:



Diseases related to Properdin Deficiency

Symptoms & Phenotypes for Properdin Deficiency

Drugs & Therapeutics for Properdin Deficiency

Search Clinical Trials , NIH Clinical Center for Properdin Deficiency

Genetic Tests for Properdin Deficiency

Anatomical Context for Properdin Deficiency

MalaCards organs/tissues related to Properdin Deficiency:

40
Monocytes

Publications for Properdin Deficiency

Articles related to Properdin Deficiency:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Neisseria meningitidis inside neutrophils, revealing properdin deficiency. 61
32717395 2020
2
[Inflammatory myopathy following acute meningoccemia in a properdin-deficient patient: A case report]. 61
31735371 2020
3
The role of properdin in complement-mediated renal diseases: a new player in complement-inhibiting therapy? 61
30141176 2019
4
Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience. 61
30593745 2018
5
[Assessment of health information available online regarding meningococcal B vaccine recommendations]. 61
29741515 2018
6
Properdin deficiency protects from 5-fluorouracil-induced small intestinal mucositis in a complement activation-independent, interleukin-10-dependent mechanism. 61
28052346 2017
7
The collectins CL-L1, CL-K1 and CL-P1, and their roles in complement and innate immunity. 61
27377710 2016
8
Background Paper for the update of meningococcal vaccination recommendations in Germany: use of the serogroup B vaccine in persons at increased risk for meningococcal disease. 61
26487381 2015
9
Properdin deficiency-associated bronchiectasis. 61
24793003 2014
10
Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. 61
23204401 2013
11
A novel mutation W388X underlying properdin deficiency in a Finnish family. 61
22229731 2012
12
Genetic and therapeutic targeting of properdin in mice prevents complement-mediated tissue injury. 61
20941861 2010
13
Properdin in childhood and its association with wheezing and atopy. 61
20337960 2010
14
[Properdin mutations a risk factor for meningitis]. 61
20593630 2010
15
Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. 61
19328743 2009
16
Properdin deficiency in murine models of nonseptic shock. 61
18453618 2008
17
Properdin deficiency in a boy with fulminant meningococcal septic shock. 61
17062484 2006
18
Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis. 61
16337490 2006
19
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 61
19388594 2006
20
[Neisseria meningitidis infection. Clinical criteria orienting towards a deficiency in the proteins of the complement]. 61
15902872 2005
21
Pulmonary complications of primary immunodeficiencies. 61
14980276 2004
22
Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 61
10909851 2000
23
The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. 61
10792385 2000
24
[Properdin deficiency]. 61
11212699 2000
25
Properdin deficiency and meningococcal disease--identifying those most at risk. 61
10540177 1999
26
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). 61
10540191 1999
27
Properdin deficiency: molecular basis and disease association. 61
10698340 1999
28
Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. 61
10028078 1999
29
Protection against meningococcal serogroup ACYW disease in complement-deficient individuals vaccinated with the tetravalent meningococcal capsular polysaccharide vaccine. 61
9844044 1998
30
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. 61
9710744 1998
31
Properdin deficiency: rare presentation with meningococcal bone and joint infections. 61
9576400 1998
32
Human properdin deficiency has a heterogeneous genetic background. 61
9476131 1997
33
Carrier detection by microsatellite haplotyping in 10 properdin type 1-deficient families. 61
8911864 1996
34
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. 61
8871668 1996
35
[Apropos of partial properdin deficiency disclosed by Neisseria meningitidis septicemia]. 61
8685117 1996
36
Fulminant meningococcal septic shock in a boy with combined inherited properdin and protein C deficiency. 61
7586681 1995
37
[Partial properdin deficiency revealed by a septicemia caused by Neisseria meningitidis]. 61
7501623 1995
38
Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. 61
8530058 1995
39
Recurrent meningococcal septicaemia and properdin deficiency. 61
8522838 1995
40
Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite. 61
7576715 1995
41
Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity. 61
8045746 1994
42
Hereditary properdin deficiency in three families of Tunisian Jews. 61
8241670 1993
43
[Complement deficiencies and meningococcal disease in The Netherlands]. 61
8316311 1993
44
Low prevalence of complement deficiencies among patients with meningococcal disease in Norway. 61
8469932 1993
45
Properdin: approaching four decades of research. 61
8288944 1993
46
Carrier detection in families with properdin deficiency by microsatellite haplotyping. 61
8423238 1993
47
Linkage analysis in properdin deficiency families: refined location in proximal Xp. 61
1516231 1992
48
The molecular basis of X-linked immunodeficiency disease. 61
1528025 1992
49
[Occurrence of complement defects in meningococcal disease: who should be examined?]. 61
1902602 1991
50
Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. 61
2397612 1990

Variations for Properdin Deficiency

Expression for Properdin Deficiency

Search GEO for disease gene expression data for Properdin Deficiency.

Pathways for Properdin Deficiency

GO Terms for Properdin Deficiency

Sources for Properdin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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