CFPD
MCID: PRP038
MIFTS: 38

Properdin Deficiency, X-Linked (CFPD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Properdin Deficiency, X-Linked

MalaCards integrated aliases for Properdin Deficiency, X-Linked:

Name: Properdin Deficiency, X-Linked 57 20 29 13 6 44 39 70
Pfd 57 20 72
Complement Factor Properdin Deficiency 57 12
Properdin P Factor Deficiency 57 20
X-Linked Properdin Deficiency 12 15
Properdin Deficiency 58 72
Cfpd 57 12
Properdin P Factor Deficiency; Pfd 57
Properdin Deficiency, Type I 57
Properdin Deficiency, Type 1 20
Properdin Deficiency Disease 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
increased susceptibility to neisseria infections


HPO:

31
properdin deficiency, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111768
OMIM® 57 312060
MeSH 44 C537241
SNOMED-CT 67 81166004
MESH via Orphanet 45 C537241
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 71 C0398762 C1839454
Orphanet 58 ORPHA2966
UMLS 70 C0398762 C1839454

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) (Updated 05-Apr-2021)

MalaCards based summary : Properdin Deficiency, X-Linked, also known as pfd, is related to properdin deficiency and fundus dystrophy, pseudoinflammatory, recessive form. An important gene associated with Properdin Deficiency, X-Linked is CFP (Complement Factor Properdin), and among its related pathways/superpathways is Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include lung, kidney and liver, and related phenotypes are abnormality of metabolism/homeostasis and dysfunctional alternative complement pathway

Disease Ontology : 12 A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has material basis in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 properdin deficiency 11.6
2 fundus dystrophy, pseudoinflammatory, recessive form 11.3
3 mccune-albright syndrome 11.1
4 neisseria meningitidis infection 10.4
5 meningococcal infection 10.3
6 bacterial infectious disease 10.0
7 complement deficiency 10.0
8 meningococcemia 10.0
9 familial short qt syndrome 10.0 KCNJ2 KCNH2
10 short qt syndrome 10.0 KCNJ2 KCNH2
11 first-degree atrioventricular block 10.0 KCNJ2 KCNH2
12 long qt syndrome 14 10.0 KCNJ2 KCNH2
13 long qt syndrome 13 10.0 KCNJ2 KCNH2
14 brugada syndrome 4 10.0 KCNJ2 KCNH2
15 third-degree atrioventricular block 10.0 KCNJ2 KCNH2
16 long qt syndrome 5 10.0 KCNJ2 KCNH2
17 long qt syndrome 6 10.0 KCNJ2 KCNH2
18 sinoatrial node disease 10.0 KCNJ2 KCNH2
19 long qt syndrome 9 10.0 KCNJ2 KCNH2
20 long qt syndrome 3 10.0 KCNJ2 KCNH2
21 timothy syndrome 9.9 KCNJ2 KCNH2
22 andersen cardiodysrhythmic periodic paralysis 9.9 KCNJ2 KCNH2
23 pelvic organ prolapse 9.9
24 pancreatic agenesis 1 9.9
25 hyperinsulinism 9.9
26 pancreas disease 9.9
27 hyperglycemia 9.9
28 adenoma 9.9
29 cardiac arrhythmia, ankyrin-b-related 9.9 KCNJ2 KCNH2
30 jervell and lange-nielsen syndrome 1 9.9 KCNJ2 KCNH2
31 otitis media 9.9
32 immune deficiency disease 9.9
33 disease by infectious agent 9.9
34 paroxysmal nocturnal hemoglobinuria 9.9
35 meningococcal meningitis 9.9
36 mucositis 9.9
37 neutropenia 9.9
38 toxic shock syndrome 9.9
39 ectodermal dysplasia 9.9
40 agammaglobulinemia 9.9
41 glomerulonephritis 9.9
42 iga glomerulonephritis 9.9
43 hemoglobinuria 9.9
44 bacterial meningitis 9.9
45 meningitis 9.9
46 bronchiectasis 9.9
47 c3 glomerulopathy 9.9
48 dense deposit disease 9.9
49 discoid lupus erythematosus 9.9
50 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 KCNJ2 KCNH2

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

Human phenotypes related to Properdin Deficiency, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 dysfunctional alternative complement pathway 31 HP:0005423

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
dysfunctional alternative complement pathway
deficiency of properdin p factor

Laboratory Abnormalities:
deficiency of serum properdin p factor

Clinical features from OMIM®:

312060 (Updated 05-Apr-2021)

Drugs & Therapeutics for Properdin Deficiency, X-Linked

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

Cochrane evidence based reviews: 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:

40
Lung, Kidney, Liver, Brain, Heart, Skin, Trachea

Publications for Properdin Deficiency, X-Linked

Articles related to Properdin Deficiency, X-Linked:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 6 57
10909851 2000
2
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. 57 6
8871668 1996
3
Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. 6 57
8530058 1995
4
Dysfunctional properdin in a Dutch family with meningococcal disease. 57 6
3380115 1988
5
Properdin deficiency in a family with fulminant meningococcal infections. 6 57
7151327 1982
6
Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity. 57
8045746 1994
7
Hereditary properdin deficiency in three families of Tunisian Jews. 57
8241670 1993
8
Carrier detection in families with properdin deficiency by microsatellite haplotyping. 57
8423238 1993
9
Characterization of the human properdin gene. 57
1417780 1992
10
Linkage analysis in properdin deficiency families: refined location in proximal Xp. 57
1516231 1992
11
Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes. 57
1572636 1992
12
Genetic and physical mapping around the properdin P gene. 57
1783405 1991
13
Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. 57
2397612 1990
14
Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups. 57
2570284 1989
15
Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome. 57
2900806 1988
16
A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. 57
3141111 1988
17
Immunodeficiency disease genes on the X chromosome. 57
3332256 1987
18
Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination. 57
3102964 1987
19
Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia. 57
3826129 1987
20
Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. 57
6433145 1984
21
Partial properdin deficiency. 57
6903190 1980
22
Inter-species Variabilities of Droplet Transport, Size Change, and Deposition in Human and Rat Respiratory Systems: An In Silico Study. 61
33776134 2021
23
Influences of puff protocols and upper airway anatomy on cannabis pharmacokinetics: A CFPD-PK study. 61
33770654 2021
24
ISPD guidelines for peritoneal dialysis in acute kidney injury: 2020 Update (paediatrics). 61
33523772 2021
25
Realizing Lobe-Specific Aerosol Targeting in a 3D-Printed In Vitro Lung Model. 61
32678723 2021
26
Transport and deposition of ultrafine particles in the upper tracheobronchial tree: a comparative study between approximate and realistic respiratory tract models. 61
33410725 2021
27
Regional Deposition: Deposition Models. 61
32758048 2020
28
Influence of wind and relative humidity on the social distancing effectiveness to prevent COVID-19 airborne transmission: A numerical study. 61
32427227 2020
29
A longitudinal assessment of non-invasive biomarkers to diagnose and predict cystic fibrosis-associated liver disease. 61
32482593 2020
30
A Spatial Coherence Beamformer Design for Power Doppler Imaging. 61
31725374 2020
31
Glottis motion effects on the particle transport and deposition in a subject-specific mouth-to-trachea model: A CFPD study. 61
31751812 2020
32
Screening for cystic fibrosis-related diabetes and prediabetes: Evaluating 1,5-anhydroglucitol, fructosamine, glycated albumin, and hemoglobin A1c. 61
31469470 2019
33
Radiation Dosimetry of Inhaled Radioactive Aerosols: CFPD and MCNP Transport Simulations of Radionuclides in the Lung. 61
31768010 2019
34
Lung Aerosol Dynamics of Airborne Influenza A Virus-Laden Droplets and the Resultant Immune System Responses: An In Silico Study. 61
31983771 2019
35
Inhalation Exposure Analysis of Lung-Inhalable Particles in an Approximate Rat Central Airway. 61
31323852 2019
36
Clinical performance of zirconia-ceramic cantilever fixed partial dentures-Longitudinal nine-year results from a prospective, randomized, controlled pilot study. 61
30803899 2019
37
CFPD simulation of magnetic drug delivery to a human lung using an SAW nebulizer. 61
30506148 2019
38
Combining Slow Flow Techniques With Adaptive Demodulation for Improved Perfusion Ultrasound Imaging Without Contrast. 61
30735994 2019
39
Computer Simulations of Continuous Flow Peritoneal Dialysis Using the 3-Pore Model-A First Experience. 61
30846606 2019
40
Urinary circulating DNA and circulating antigen for diagnosis of schistosomiasis mansoni: a field study. 61
30549391 2019
41
Schistosoma mansoni and endocarditis: from egg to free DNA detection in Egyptian patients and infected BALB/c mice. 61
29352830 2019
42
Outcome of Chair-Side Dental Fear Treatment: Long-Term Follow-Up in Public Health Setting. 61
31281361 2019
43
Nasal dilation effects on olfactory deposition in unilateral and bi-directional deliveries: In vitro tests and numerical modeling. 61
29597042 2018
44
Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model. 61
29020304 2018
45
Regional aerosol deposition in the human airways: The SimInhale benchmark case and a critical assessment of in silico methods. 61
28890203 2018
46
Computational Analysis of Deposition and Translocation of Inhaled Nicotine and Acrolein in the Human Body with E-cigarette Puffing Topographies. 61
30381781 2018
47
Development of a wearable bioartificial kidney using the Bioartificial Renal Epithelial Cell System (BRECS). 61
27860413 2017
48
An In Silico Subject-Variability Study of Upper Airway Morphological Influence on the Airflow Regime in a Tracheobronchial Tree. 61
29144436 2017
49
Secreted factors from equine mesenchymal stromal cells diminish the effects of TGF-β1 on equine dermal fibroblasts and alter the phenotype of dermal fibroblasts isolated from cutaneous fibroproliferative wounds. 61
28370679 2017
50
The Effects of Pharmacological Compounds on Beat Rate Variations in Human Long QT-Syndrome Cardiomyocytes. 61
27646833 2016

Variations for Properdin Deficiency, X-Linked

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFP NM_001145252.3(CFP):c.481C>T (p.Arg161Ter) SNV Pathogenic 11181 rs132630258 GRCh37: X:47486963-47486963
GRCh38: X:47627564-47627564
2 CFP NM_001145252.3(CFP):c.298C>T (p.Arg100Trp) SNV Pathogenic 11182 rs132630259 GRCh37: X:47487606-47487606
GRCh38: X:47628207-47628207
3 CFP NM_001145252.3(CFP):c.893G>T (p.Gly298Val) SNV Pathogenic 11183 rs28935480 GRCh37: X:47486219-47486219
GRCh38: X:47626820-47626820
4 CFP NM_001145252.3(CFP):c.617C>G (p.Ser206Ter) SNV Pathogenic 11184 rs132630260 GRCh37: X:47486689-47486689
GRCh38: X:47627290-47627290
5 CFP NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp) SNV Pathogenic 11185 rs132630261 GRCh37: X:47485461-47485461
GRCh38: X:47626062-47626062
6 CFP NM_001145252.3(CFP):c.476G>A (p.Arg159His) SNV Uncertain significance 973631 GRCh37: X:47486968-47486968
GRCh38: X:47627569-47627569

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

72
# 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
5 CFP p.Cys32Tyr VAR_083038
6 CFP p.Glu244Lys VAR_083039

Expression for Properdin Deficiency, X-Linked

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

Pathways for Properdin Deficiency, X-Linked

Pathways related to Properdin Deficiency, X-Linked according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.37 KCNJ2 KCNH2

GO Terms for Properdin Deficiency, X-Linked

Cellular components related to Properdin Deficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.62 KCNJ2 KCNH2

Biological processes related to Properdin Deficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac conduction GO:0061337 9.4 KCNJ2 KCNH2
2 potassium ion import across plasma membrane GO:1990573 9.37 KCNJ2 KCNH2
3 regulation of heart rate by cardiac conduction GO:0086091 9.32 KCNJ2 KCNH2
4 positive regulation of potassium ion transmembrane transport GO:1901381 9.26 KCNJ2 KCNH2
5 regulation of membrane repolarization GO:0060306 9.16 KCNJ2 KCNH2
6 membrane repolarization during cardiac muscle cell action potential GO:0086013 8.96 KCNJ2 KCNH2
7 membrane repolarization during action potential GO:0086011 8.62 KCNJ2 KCNH2

Molecular functions related to Properdin Deficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifier potassium channel activity GO:0005242 8.96 KCNJ2 KCNH2
2 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.62 KCNJ2 KCNH2

Sources for Properdin Deficiency, X-Linked

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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