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MBLD
MCID: MNN034
MIFTS: 44

Mannose-Binding Lectin Deficiency (MBLD)

Categories: Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Mannose-Binding Lectin Deficiency

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MalaCards integrated aliases for Mannose-Binding Lectin Deficiency:

Name: Mannose-Binding Lectin Deficiency 57 25 40
Mannose-Binding Protein Deficiency 57 25 29 6 73
Chronic Infections, Due to Mbl Deficiency 57 13
Mbl2 Deficiency 57 25
Mbl Deficiency 57 25
Mbp Deficiency 57 25
Lectin Complement Activation Pathway, Defect in, 1; Lcapd1 57
Susceptibility to Infection in Immunocompromised Patient 59
Lectin Complement Activation Pathway, Defect in, 1 57
Mannose-Binding Lectin Protein Deficiency 25
Lcapd1 57
Mbld 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
up to 10% of healthy individuals may have mbl deficiency and be asymptomatic
individuals with homozygous or compound heterozygous polymorphisms may have lower serum mbl levels and more severe clinical manifestations


HPO:

32
mannose-binding lectin deficiency:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 614372
Orphanet 59 ORPHA449306
MedGen 42 C3280586
SNOMED-CT via HPO 69 263681008 36440009 432788009
UMLS 73 C3280586
Sources

Summaries for Mannose-Binding Lectin Deficiency

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OMIM : 57 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). (614372)

MalaCards based summary : Mannose-Binding Lectin Deficiency, also known as mannose-binding protein deficiency, is related to neisseria meningitidis infection and meningitis. An important gene associated with Mannose-Binding Lectin Deficiency is MBL2 (Mannose Binding Lectin 2), and among its related pathways/superpathways are Innate Immune System and Complement and coagulation cascades. Affiliated tissues include liver, skin and kidney, and related phenotypes are failure to thrive and recurrent skin infections

Genetics Home Reference : 25 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.

Sources

Related Diseases for Mannose-Binding Lectin Deficiency

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Diseases related to Mannose-Binding Lectin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 neisseria meningitidis infection 30.0 CFP MBL2
2 meningitis 29.9 CFP IL6 MBL2
3 systemic lupus erythematosus 29.8 C5AR1 FCN3 IL6 MBL2
4 pneumonia 29.8 IL6 MBL2
5 meningococcemia 29.7 CFP MBL2
6 rheumatic heart disease 29.6 IL6 MASP2 MBL2
7 mannose-binding lectin protein deficiency 12.0
8 masp2 deficiency 11.1
9 ficolin 3 deficiency 11.1
10 rheumatoid arthritis 10.3
11 arthritis 10.3
12 lupus erythematosus 10.3
13 cystic fibrosis 10.2
14 cryptosporidiosis 10.2
15 immune deficiency disease 10.1
16 myositis 10.1
17 asthma 10.1
18 pulmonary disease, chronic obstructive 10.1
19 myocardial infarction 10.1
20 leukemia, acute lymphoblastic 10.1
21 alpha-1-antitrypsin deficiency 10.1
22 aspergillosis 10.1
23 acute lymphoblastic leukemia, childhood 10.1
24 crohn's disease 10.1
25 liver cirrhosis 10.1
26 invasive aspergillosis 10.1
27 infective endocarditis 10.1
28 cryptococcal meningitis 10.1
29 endocarditis 10.1
30 lymphocytic leukemia 10.1
31 meningoencephalitis 10.1
32 strongyloidiasis 10.1
33 pertussis 10.1
34 pyelonephritis 10.1
35 cryptococcosis 10.1
36 myopathy 10.1
37 endophthalmitis 10.1
38 acute pyelonephritis 10.1
39 lymphopenia 10.1
40 juvenile rheumatoid arthritis 10.1
41 peritonitis 10.1
42 influenza 10.1
43 chronic fatigue syndrome 10.1
44 bronchiectasis 10.1
45 haemophilus influenzae 10.1
46 polyarticular onset juvenile idiopathic arthritis 10.1
47 cytomegalovirus infection 10.1
48 pneumococcal meningitis 10.1
49 listeriosis 10.0 IL6 MBL2
50 bacterial vaginosis 10.0 IL6 MBL2

Graphical network of the top 20 diseases related to Mannose-Binding Lectin Deficiency:



Diseases related to Mannose-Binding Lectin Deficiency
Sources

Symptoms & Phenotypes for Mannose-Binding Lectin Deficiency

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Symptoms via clinical synopsis from OMIM:

57
Immunology:
defective activation of the complement system
increased susceptibility to infection in vulnerable populations (toddlers, cancer patients, organ transplant patients, patients in the intensive care unit)

Laboratory Abnormalities:
decreased levels of circulating mannan-binding lectin


Clinical features from OMIM:

614372

Human phenotypes related to Mannose-Binding Lectin Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent skin infections 32 HP:0001581
3 susceptibility to herpesvirus 32 HP:0005353
4 recurrent klebsiella infections 32 HP:0002742
5 recurrent meningococcal disease 32 HP:0005381
6 disseminated cryptosporidium infection 32 HP:0031699

MGI Mouse Phenotypes related to Mannose-Binding Lectin Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 C5AR1 CFP FCN1 IL6 MASP2 MBL2
Sources

Drugs & Therapeutics for Mannose-Binding Lectin Deficiency

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Recombinant Human Mannose-Binding Lectin (MBL) in Treating Young Patients With MBL Deficiency and Fever and Neutropenia Withdrawn NCT00886496 Phase 1
2 Detection and Inflammatory Characterization of Deep Infection After Surgery for Locally Advanced Rectal Cancer With Microdialysis Catheters Recruiting NCT03392584

Search NIH Clinical Center for Mannose-Binding Lectin Deficiency

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Genetic Tests for Mannose-Binding Lectin Deficiency

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Genetic tests related to Mannose-Binding Lectin Deficiency:

# Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency 29 MBL2
Sources

Anatomical Context for Mannose-Binding Lectin Deficiency

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MalaCards organs/tissues related to Mannose-Binding Lectin Deficiency:

41
Liver, Skin, Kidney, Lung, Heart, Eye, Myeloid
Sources

Publications for Mannose-Binding Lectin Deficiency

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Articles related to Mannose-Binding Lectin Deficiency:

(show top 50) (show all 78)
# Title Authors Year
1
Mannose-binding lectin deficiency associated with numerous paraspinal neurofibromas. ( 29162315 )
2018
2
Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants. ( 29452463 )
2018
3
Genetic mannose binding lectin deficiency is associated with airway microbiota diversity and reduced exacerbation frequency in COPD. ( 29101284 )
2017
4
Mannose-binding lectin deficiency and miscarriages in rheumatoid arthritis. ( 28898115 )
2017
5
Mannose-Binding Lectin Deficiency in Brazilian Patients with Spondyloarthritis. ( 27911110 )
2017
6
Mild and moderate Mannose Binding Lectin deficiency are associated with systemic lupus erythematosus and lupus nephritis in Brazilian patients. ( 27267640 )
2016
7
Mannose-binding lectin deficiency and predisposition to recurrent infection in adults. ( 26837313 )
2016
8
Mannose-binding Lectin Deficiency in Patients with a History of Recurrent Infections. ( 26996114 )
2016
9
HIV-1 Vertical Transmission in Zimbabwe in 622 Mother and Infant Pairs: Rethinking the Contribution of Mannose Binding Lectin Deficiency in Africa. ( 27315016 )
2016
10
Mannose binding lectin deficiency and susceptibility to infections in patients with rheumatoid arthritis. ( 26667215 )
2016
11
Combined alpha-1-antitrypsin deficiency and mannose-binding lectin deficiency. ( 26519979 )
2016
12
Role of Mannose-Binding Lectin Deficiency in HIV-1 and Schistosoma Infections in a Rural Adult Population in Zimbabwe. ( 25830474 )
2015
13
Frequent IgG subclass and mannose binding lectin deficiency in patients with chronic fatigue syndrome. ( 26429318 )
2015
14
HIV-1 Disease Progression and Survival in an Adult Population in Zimbabwe: Is There an Effect of the Mannose Binding Lectin Deficiency? ( 26348711 )
2015
15
Infective endocarditis and mannose-binding lectin deficiency - A case report. ( 28979445 )
2015
16
High prevalence of genetically-determined mannose binding lectin deficiency in young children with invasive pneumococcal disease. ( 24602163 )
2014
17
MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus. ( 24850777 )
2014
18
Increased risk of pertussis in adult patients with mannose-binding lectin deficiency. ( 23030784 )
2013
19
Impact of mannose-binding lectin deficiency on radiocontrast-induced renal dysfunction. ( 24386641 )
2013
20
Mannose-binding lectin deficiency and disease severity in non-cystic fibrosis bronchiectasis: a prospective study. ( 24429128 )
2013
21
Mannose-binding lectin deficiency is not associated with Anti-Saccharomyces cerevisiae antibody in Korean Crohn's disease patients. ( 24374090 )
2013
22
Significance of mannose-binding lectin deficiency and nucleotide-binding oligomerization domain 2 polymorphisms in Staphylococcus aureus bloodstream infections: a case-control study. ( 24086711 )
2013
23
Impaired thymic function and CD4+ T lymphopenia, but not mannose-binding lectin deficiency, are risk factors for Pneumocystis jirovecii pneumonia in kidney transplant recipients. ( 23684946 )
2013
24
Mannose-binding lectin deficiency in a patient with multiple opportunistic infections, strongyloidiasis, and spindle cell tumor. ( 23352534 )
2013
25
Mannose binding lectin deficiency: more than meets the eye. ( 23641170 )
2012
26
Mannose-binding lectin deficiency is not associated with increased risk for polyomavirus nephropathy. ( 22198424 )
2012
27
Impact of mannose-binding lectin deficiency on radiocontrast-induced renal dysfunction: a post-hoc analysis of a multicenter randomized controlled trial. ( 22938690 )
2012
28
Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway. ( 22848725 )
2012
29
Mannose-binding lectin deficiency and acute exacerbations of chronic obstructive pulmonary disease. ( 23226013 )
2012
30
Mannose-binding lectin deficiency linked to cytomegalovirus (CMV) reactivation and survival in lung transplantation. ( 21707593 )
2011
31
Mannose-binding lectin deficiency with eosinophilic meningoencephalitis due to Angiostrongylus cantonensis in children: a case series. ( 21798005 )
2011
32
Genotypes coding for mannose-binding lectin deficiency correlated with cryptococcal meningitis in HIV-uninfected Chinese patients. ( 21592999 )
2011
33
Serum concentration of complement components of the lectin pathway in maintenance hemodialysis patients, and relatively higher levels of L-Ficolin and MASP-2 in Mannose-binding lectin deficiency. ( 21974696 )
2011
34
No association between mannose-binding lectin deficiency and H1N1 2009 infection observed during the first season of this novel pandemic influenza virus. ( 21920399 )
2011
35
Necrotizing myositis and septic shock caused by Haemophilus influenzae type f in a previously healthy man diagnosed with an IgG3 and a mannose-binding lectin deficiency. ( 21728743 )
2011
36
Mannose-binding lectin deficiency influences innate and antigen-presenting functions of blood myeloid dendritic cells. ( 21091907 )
2011
37
Mannose-binding lectin deficiency is associated with smaller infarction size and favorable outcome in ischemic stroke patients. ( 21712986 )
2011
38
The Neuroprotective Effect of Genetic Mannose-binding Lectin Deficiency is not Sustained in the Sub-acute Phase of Stroke. ( 22505955 )
2011
39
Mannose-binding lectin deficiency and respiratory tract infection. ( 20375630 )
2010
40
Serotype-specific pneumococcal disease may be influenced by mannose-binding lectin deficiency. ( 20150204 )
2010
41
Mannose-binding lectin deficiency confers risk for bacterial infections in a large Hungarian cohort of patients with liver cirrhosis. ( 20605050 )
2010
42
High frequency of clinically significant infections and cytomegalovirus disease in kidney transplant recipients with serum mannose-binding lectin deficiency. ( 19377256 )
2009
43
Clinical manifestation of mannose-binding lectin deficiency in adults independent of concomitant immunodeficiency. ( 19580835 )
2009
44
Association of mannose-binding lectin deficiency with acute invasive aspergillosis in immunocompromised patients. ( 19827955 )
2009
45
Mannose binding lectin deficiency and triglyceride-rich lipoprotein metabolism in normolipidemic subjects. ( 19380135 )
2009
46
Donor mannose-binding lectin deficiency increases the likelihood of clinically significant infection after liver transplantation. ( 19143554 )
2009
47
Recalcitrant Candida endophthalmitis associated with mannose-binding lectin deficiency. ( 19506210 )
2009
48
Association of salivary S. mutans colonisation and mannose-binding lectin deficiency with gender in Behçet's disease. ( 19796530 )
2009
49
Heterogeneity in the clinical manifestations of mannose-binding lectin deficiency. ( 19840631 )
2009
50
Mannose-binding lectin deficiency in a child with recurrent infections. ( 19874762 )
2009
Sources

Variations for Mannose-Binding Lectin Deficiency

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ClinVar genetic disease variations for Mannose-Binding Lectin Deficiency:

6 (show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 MBL2 NM_000242.2(MBL2): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs1800450 GRCh37 Chromosome 10, 54531235: 54531235
2 MBL2 NM_000242.2(MBL2): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs1800450 GRCh38 Chromosome 10, 52771475: 52771475
3 MBL2 NM_000242.2(MBL2): c.170G> A (p.Gly57Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1800451 GRCh37 Chromosome 10, 54531226: 54531226
4 MBL2 NM_000242.2(MBL2): c.170G> A (p.Gly57Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1800451 GRCh38 Chromosome 10, 52771466: 52771466
5 MBL2 NM_000242.2(MBL2): c.154C> T (p.Arg52Cys) single nucleotide variant Pathogenic rs5030737 GRCh37 Chromosome 10, 54531242: 54531242
6 MBL2 NM_000242.2(MBL2): c.154C> T (p.Arg52Cys) single nucleotide variant Pathogenic rs5030737 GRCh38 Chromosome 10, 52771482: 52771482
7 MBL2 NM_000242.2(MBL2): c.*2727G> T single nucleotide variant Uncertain significance rs138449358 GRCh37 Chromosome 10, 54525170: 54525170
8 MBL2 NM_000242.2(MBL2): c.*2727G> T single nucleotide variant Uncertain significance rs138449358 GRCh38 Chromosome 10, 52765410: 52765410
9 MBL2 NM_000242.2(MBL2): c.*2450A> T single nucleotide variant Uncertain significance rs56325023 GRCh37 Chromosome 10, 54525447: 54525447
10 MBL2 NM_000242.2(MBL2): c.*2450A> T single nucleotide variant Uncertain significance rs56325023 GRCh38 Chromosome 10, 52765687: 52765687
11 MBL2 NM_000242.2(MBL2): c.*2033G> A single nucleotide variant Uncertain significance rs544901610 GRCh37 Chromosome 10, 54525864: 54525864
12 MBL2 NM_000242.2(MBL2): c.*2033G> A single nucleotide variant Uncertain significance rs544901610 GRCh38 Chromosome 10, 52766104: 52766104
13 MBL2 NM_000242.2(MBL2): c.*1995delC deletion Uncertain significance rs751460283 GRCh37 Chromosome 10, 54525902: 54525902
14 MBL2 NM_000242.2(MBL2): c.*1995delC deletion Uncertain significance rs751460283 GRCh38 Chromosome 10, 52766142: 52766142
15 MBL2 NM_000242.2(MBL2): c.*1819T> C single nucleotide variant Uncertain significance rs774307463 GRCh37 Chromosome 10, 54526078: 54526078
16 MBL2 NM_000242.2(MBL2): c.*1819T> C single nucleotide variant Uncertain significance rs774307463 GRCh38 Chromosome 10, 52766318: 52766318
17 MBL2 NM_000242.2(MBL2): c.*1695G> T single nucleotide variant Uncertain significance rs35768126 GRCh37 Chromosome 10, 54526202: 54526202
18 MBL2 NM_000242.2(MBL2): c.*1695G> T single nucleotide variant Uncertain significance rs35768126 GRCh38 Chromosome 10, 52766442: 52766442
19 MBL2 NM_000242.2(MBL2): c.*1569A> G single nucleotide variant Uncertain significance rs754268753 GRCh37 Chromosome 10, 54526328: 54526328
20 MBL2 NM_000242.2(MBL2): c.*1569A> G single nucleotide variant Uncertain significance rs754268753 GRCh38 Chromosome 10, 52766568: 52766568
21 MBL2 NM_000242.2(MBL2): c.*1498C> T single nucleotide variant Uncertain significance rs56009657 GRCh37 Chromosome 10, 54526399: 54526399
22 MBL2 NM_000242.2(MBL2): c.*1498C> T single nucleotide variant Uncertain significance rs56009657 GRCh38 Chromosome 10, 52766639: 52766639
23 MBL2 NM_000242.2(MBL2): c.*674A> G single nucleotide variant Uncertain significance rs886047049 GRCh37 Chromosome 10, 54527223: 54527223
24 MBL2 NM_000242.2(MBL2): c.*674A> G single nucleotide variant Uncertain significance rs886047049 GRCh38 Chromosome 10, 52767463: 52767463
25 MBL2 NM_000242.2(MBL2): c.302C> T (p.Pro101Leu) single nucleotide variant Uncertain significance rs143562102 GRCh37 Chromosome 10, 54530432: 54530432
26 MBL2 NM_000242.2(MBL2): c.302C> T (p.Pro101Leu) single nucleotide variant Uncertain significance rs143562102 GRCh38 Chromosome 10, 52770672: 52770672
27 MBL2 NM_000242.2(MBL2): c.166A> G (p.Lys56Glu) single nucleotide variant Uncertain significance rs886047052 GRCh37 Chromosome 10, 54531230: 54531230
28 MBL2 NM_000242.2(MBL2): c.166A> G (p.Lys56Glu) single nucleotide variant Uncertain significance rs886047052 GRCh38 Chromosome 10, 52771470: 52771470
29 MBL2 NM_000242.2(MBL2): c.-14C> G single nucleotide variant Uncertain significance rs184683428 GRCh37 Chromosome 10, 54531409: 54531409
30 MBL2 NM_000242.2(MBL2): c.-14C> G single nucleotide variant Uncertain significance rs184683428 GRCh38 Chromosome 10, 52771649: 52771649
31 MBL2 NM_000242.2(MBL2): c.*2702G> A single nucleotide variant Uncertain significance rs114932753 GRCh38 Chromosome 10, 52765435: 52765435
32 MBL2 NM_000242.2(MBL2): c.*2702G> A single nucleotide variant Uncertain significance rs114932753 GRCh37 Chromosome 10, 54525195: 54525195
33 MBL2 NM_000242.2(MBL2): c.*2477C> T single nucleotide variant Uncertain significance rs55855374 GRCh37 Chromosome 10, 54525420: 54525420
34 MBL2 NM_000242.2(MBL2): c.*2477C> T single nucleotide variant Uncertain significance rs55855374 GRCh38 Chromosome 10, 52765660: 52765660
35 MBL2 NM_000242.2(MBL2): c.*2048A> G single nucleotide variant Likely benign rs2099902 GRCh37 Chromosome 10, 54525849: 54525849
36 MBL2 NM_000242.2(MBL2): c.*2048A> G single nucleotide variant Likely benign rs2099902 GRCh38 Chromosome 10, 52766089: 52766089
37 MBL2 NM_000242.2(MBL2): c.*1913C> T single nucleotide variant Likely benign rs2165813 GRCh37 Chromosome 10, 54525984: 54525984
38 MBL2 NM_000242.2(MBL2): c.*1913C> T single nucleotide variant Likely benign rs2165813 GRCh38 Chromosome 10, 52766224: 52766224
39 MBL2 NM_000242.2(MBL2): c.*1879A> C single nucleotide variant Likely benign rs2120131 GRCh37 Chromosome 10, 54526018: 54526018
40 MBL2 NM_000242.2(MBL2): c.*1879A> C single nucleotide variant Likely benign rs2120131 GRCh38 Chromosome 10, 52766258: 52766258
41 MBL2 NM_000242.2(MBL2): c.*1694G> T single nucleotide variant Uncertain significance rs35327474 GRCh37 Chromosome 10, 54526203: 54526203
42 MBL2 NM_000242.2(MBL2): c.*1694G> T single nucleotide variant Uncertain significance rs35327474 GRCh38 Chromosome 10, 52766443: 52766443
43 MBL2 NM_000242.2(MBL2): c.*1429A> C single nucleotide variant Uncertain significance rs577771508 GRCh38 Chromosome 10, 52766708: 52766708
44 MBL2 NM_000242.2(MBL2): c.*1429A> C single nucleotide variant Uncertain significance rs577771508 GRCh37 Chromosome 10, 54526468: 54526468
45 MBL2 NM_000242.2(MBL2): c.*1136A> G single nucleotide variant Uncertain significance rs115639140 GRCh37 Chromosome 10, 54526761: 54526761
46 MBL2 NM_000242.2(MBL2): c.*1136A> G single nucleotide variant Uncertain significance rs115639140 GRCh38 Chromosome 10, 52767001: 52767001
47 MBL2 NM_000242.2(MBL2): c.*1088C> T single nucleotide variant Uncertain significance rs56095345 GRCh37 Chromosome 10, 54526809: 54526809
48 MBL2 NM_000242.2(MBL2): c.*1088C> T single nucleotide variant Uncertain significance rs56095345 GRCh38 Chromosome 10, 52767049: 52767049
49 MBL2 NM_000242.2(MBL2): c.*953T> C single nucleotide variant Uncertain significance rs886047047 GRCh37 Chromosome 10, 54526944: 54526944
50 MBL2 NM_000242.2(MBL2): c.*953T> C single nucleotide variant Uncertain significance rs886047047 GRCh38 Chromosome 10, 52767184: 52767184
Sources

Expression for Mannose-Binding Lectin Deficiency

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Search GEO for disease gene expression data for Mannose-Binding Lectin Deficiency.
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Pathways for Mannose-Binding Lectin Deficiency

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Pathways related to Mannose-Binding Lectin Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.51 C5AR1 CFP FCN1 FCN3 IL6 MASP2
2
Complement and coagulation cascades 1 37
11.64 C5AR1 MASP2 MBL2
3
Creation of C4 and C2 activators 66
Show member pathways
 11.52 C5AR1 FCN1 FCN3 MASP2 MBL2
4
Complement Pathway 64
Show member pathways
 11.48 C5AR1 CFP MASP2 MBL2
5
Staphylococcus aureus infection 37
11.18 C5AR1 MASP2 MBL2
6
Immune response Lectin induced complement pathway 22
Show member pathways
 11.15 C5AR1 CFP FCN3 MASP2 MBL2
Sources

GO Terms for Mannose-Binding Lectin Deficiency

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Cellular components related to Mannose-Binding Lectin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 CFP FCN1 FCN3 IL6 MASP2 MBL2
2 collagen trimer GO:0005581 8.8 FCN1 FCN3 MBL2

Biological processes related to Mannose-Binding Lectin Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.76 FCN1 FCN3 MASP2 MBL2
2 immune response GO:0006955 9.69 C5AR1 CFP IL6
3 neutrophil degranulation GO:0043312 9.67 C5AR1 CFP FCN1
4 proteolysis GO:0006508 9.65 CFP FCN1 FCN3 MASP2 MBL2
5 defense response to Gram-positive bacterium GO:0050830 9.58 C5AR1 IL6 MBL2
6 innate immune response GO:0045087 9.55 CFP FCN1 FCN3 MASP2 MBL2
7 regulation of complement activation GO:0030449 9.52 C5AR1 CFP
8 acute-phase response GO:0006953 9.48 IL6 MBL2
9 negative regulation of viral entry into host cell GO:0046597 9.43 FCN1 FCN3
10 recognition of apoptotic cell GO:0043654 9.37 FCN1 FCN3
11 complement activation GO:0006956 9.35 CFP FCN1 FCN3 MASP2 MBL2
12 response to peptidoglycan GO:0032494 9.32 C5AR1 IL6
13 complement activation, lectin pathway GO:0001867 8.92 FCN1 FCN3 MASP2 MBL2

Molecular functions related to Mannose-Binding Lectin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein binding GO:0048306 9.16 MASP2 MBL2
2 carbohydrate binding GO:0030246 9.13 FCN1 FCN3 MBL2
3 serine-type endopeptidase activity GO:0004252 9.02 CFP FCN1 FCN3 MASP2 MBL2
Sources

Sources for Mannose-Binding Lectin Deficiency

About this section
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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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