MCID: PRP033
MIFTS: 17

Properdin Deficiency

Categories: Rare diseases

Aliases & Classifications for Properdin Deficiency

MalaCards integrated aliases for Properdin Deficiency:

Name: Properdin Deficiency 53
Properdin Deficiency Disease 73

Classifications:



External Ids:

UMLS 73 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, testes and small intestine.

Wikipedia : 76 Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor, is... more...

Related Diseases for Properdin Deficiency

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 properdin deficiency, x-linked 12.6
2 neisseria meningitidis infection 10.0
3 meningococcal infection 9.9
4 meningococcemia 9.9
5 hemoglobinuria 9.8
6 lupus erythematosus 9.8
7 bronchiectasis 9.8
8 c3 glomerulopathy 9.8
9 47, xxy 9.8
10 otitis media 9.8
11 discoid lupus erythematosus 9.8
12 glomerulonephritis 9.8
13 neutropenia 9.8
14 paroxysmal nocturnal hemoglobinuria 9.8
15 mucositis 9.8
16 iga glomerulonephritis 9.8
17 pneumonia 9.8

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:

41
Monocytes, Testes, Small Intestine, Bone

Publications for Properdin Deficiency

Articles related to Properdin Deficiency:

(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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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