MBLD
MCID: MNN034
MIFTS: 45

Mannose-Binding Lectin Deficiency (MBLD)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Mannose-Binding Lectin Deficiency

MalaCards integrated aliases for Mannose-Binding Lectin Deficiency:

Name: Mannose-Binding Lectin Deficiency 57 43 39
Mannose-Binding Protein Deficiency 57 43 29 6 70
Chronic Infections, Due to Mbl Deficiency 57 29 13
Mbl2 Deficiency 57 43
Mbl Deficiency 57 43
Mbp Deficiency 57 43
Lectin Complement Activation Pathway, Defect in, 1; Lcapd1 57
Lectin Complement Activation Pathway, Defect in, 1 57
Mannose-Binding Lectin Protein Deficiency 43
Lcapd1 57
Mbld 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
mannose-binding lectin deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614372
OMIM Phenotypic Series 57 PS614372
MedGen 41 C3280586
SNOMED-CT via HPO 68 263681008 36440009 432788009
UMLS 70 C3280586

Summaries for Mannose-Binding Lectin Deficiency

MedlinePlus Genetics : 43 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.People with mannose-binding lectin deficiency can develop infections of the upper respiratory tract and other body systems. Individuals with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections than affected adults, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections.

MalaCards based summary : Mannose-Binding Lectin Deficiency, also known as mannose-binding protein deficiency, is related to neisseria meningitidis infection and meningococcemia. 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 kidney, eye and myeloid, and related phenotypes are failure to thrive and recurrent skin infections

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) (Updated 05-Apr-2021)

Related Diseases for Mannose-Binding Lectin Deficiency

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 neisseria meningitidis infection 30.5 MBL2 CFP
2 meningococcemia 30.3 MBL2 CFP
3 bronchiectasis 30.2 MBL2 IL6
4 meningococcal meningitis 30.2 MBL2 CFP
5 bacterial infectious disease 30.2 MBL2 IL6 CFP
6 meningitis 30.1 MBL2 IL6 CFP
7 meningoencephalitis 30.1 IL6 C5AR1
8 otitis media 30.1 MBL2 IL6
9 neutropenia 29.8 MBL2 IL6 C5AR1
10 rheumatic heart disease 29.3 MBL2 IL6 FCN3
11 rheumatic fever 28.5 MBL2 MASP2 IL6 FCN3 FCN1
12 masp2 deficiency 10.9
13 ficolin 3 deficiency 10.9
14 disease by infectious agent 10.4
15 systemic lupus erythematosus 10.4
16 lupus erythematosus 10.4
17 respiratory papillomatosis, juvenile recurrent, congenital 10.3
18 rheumatoid arthritis 10.2
19 schistosoma mansoni infection, susceptibility/ 10.2
20 cystic fibrosis 10.2
21 schistosomiasis 10.2
22 toxic shock syndrome 10.2
23 cryptosporidiosis 10.2
24 end stage renal disease 10.2
25 arthritis 10.2
26 haemophilus influenzae 10.2
27 sporotrichosis 10.2 MBL2 MASP2
28 coccidioidomycosis 10.1 MBL3P MBL2
29 prosthetic joint infection 10.1 MBL2 IL6
30 scabies 10.1 MBL2 CFP
31 spondyloarthropathy 1 10.1
32 atherosclerosis susceptibility 10.1
33 progressive familial heart block, type ia 10.1
34 myositis 10.1
35 immune deficiency disease 10.1
36 proteasome-associated autoinflammatory syndrome 1 10.1
37 pulmonary disease, chronic obstructive 10.1
38 myocardial infarction 10.1
39 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
40 microvascular complications of diabetes 3 10.1
41 microvascular complications of diabetes 4 10.1
42 microvascular complications of diabetes 6 10.1
43 microvascular complications of diabetes 7 10.1
44 leukemia, acute lymphoblastic 10.1
45 alpha-1-antitrypsin deficiency 10.1
46 aspergillosis 10.1
47 bacteremia 2 10.1
48 streptococcus pneumonia 10.1
49 polyomavirus-associated nephropathy 10.1
50 invasive aspergillosis 10.1

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



Diseases related to Mannose-Binding Lectin Deficiency

Symptoms & Phenotypes for Mannose-Binding Lectin Deficiency

Human phenotypes related to Mannose-Binding Lectin Deficiency:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 recurrent skin infections 31 HP:0001581
3 recurrent herpes 31 HP:0005353
4 recurrent klebsiella infections 31 HP:0002742
5 recurrent meningococcal disease 31 HP:0005381
6 disseminated cryptosporidium infection 31 HP:0031699

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Drugs & Therapeutics for Mannose-Binding Lectin Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study on Mannan Binding Lectin (MBL) Substitution in MBL-Deficient Children With Chemotherapy-Induced Neutropenia Completed NCT00138736 Phase 2 Mannan Binding Lectin (MBL);Mannan Binding Lectin
2 A Multi-Center Study of the Safety, Tolerability, Pharmacokinetics and Dose Escalation of Intravenous Recombinant Human Mannose-Binding-Lectin (rhMBL) in MBL Deficient Pediatric Hematology/Oncology Patients With Fever and Neutropenia Withdrawn NCT00886496 Phase 1
3 A Multi-Center Study of the Safety, Tolerability, Pharmacokinetics, and Dose Escalation of Intravenous Recombinant Human Mannose-Binding-Lectin (rhMBL) in MBL Deficient Pediatric Hematology/Oncology Patients With Fever and Neutropenia Withdrawn NCT00520325 Phase 1 Intravenous recombinant human mannose binding lectin;Intravenous recombinant human mannose binding lectin

Search NIH Clinical Center for Mannose-Binding Lectin Deficiency

Genetic Tests for Mannose-Binding Lectin Deficiency

Genetic tests related to Mannose-Binding Lectin Deficiency:

# Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency 29 MBL2
2 Chronic Infections, Due to Mbl Deficiency 29

Anatomical Context for Mannose-Binding Lectin Deficiency

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

40
Kidney, Eye, Myeloid, Neutrophil

Publications for Mannose-Binding Lectin Deficiency

Articles related to Mannose-Binding Lectin Deficiency:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. 57 6
16912583 2006
2
Mannose-binding lectin gene polymorphisms are associated with gestational diabetes mellitus. 57 6
15472209 2004
3
Mannose binding protein gene mutations associated with unusual and severe infections in adults. 57 6
7707811 1995
4
Mannose-binding lectin deficiency influences innate and antigen-presenting functions of blood myeloid dendritic cells. 61 57
21091907 2011
5
Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States. 61 6
10071515 1999
6
Association of mannose-binding-lectin deficiency with severe atherosclerosis. 61 57
9752823 1998
7
Defective activities, but not secretions, resulting from gene point mutations of human mannan-binding lectin. 6
22323042 2012
8
Disease-causing mutations in genes of the complement system. 57
21664996 2011
9
Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults. 57
18582923 2008
10
Mannose binding lectin genotypes influence recovery from hepatitis B virus infection. 57
15994813 2005
11
Mannose-binding lectin polymorphisms in clinical tuberculosis. 57
12934195 2003
12
Complement. First of two parts. 57
11287977 2001
13
Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians. 6
10888598 2000
14
Association of familial deficiency of mannose-binding lectin and meningococcal disease. 57
10509505 1999
15
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. 57
10449435 1999
16
Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Meningococcal Research Group. 57
10199352 1999
17
Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. 57
9154025 1997
18
Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. 57
9014910 1997
19
Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency. 57
7564730 1995
20
A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. 6
8206524 1994
21
High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. 6
1304173 1992
22
Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations. 6
1458688 1992
23
Distinct and overlapping functions of allelic forms of human mannose binding protein. 6
1303250 1992
24
Deficiency of mannan binding protein--a new complement deficiency syndrome. 57
1934604 1991
25
Molecular basis of opsonic defect in immunodeficient children. 6
1675710 1991
26
Association of low levels of mannan-binding protein with a common defect of opsonisation. 57
2573758 1989
27
Defective opsonization. A common immunity deficiency. 57
769701 1976
28
Mannose-binding lectin gene polymorphism and its effect on short term outcomes in preterm infants. 61
31029683 2020
29
Atypical Clinical Presentation of Hidradenitis Suppurativa in a Patient with Severe Mannose-Binding Lectin Deficiency. 61
32508615 2020
30
Complement Activation in 22q11.2 Deletion Syndrome. 61
32152940 2020
31
No association of complement mannose-binding lectin deficiency with cardiovascular disease in patients with Systemic Lupus Erythematosus. 61
32111865 2020
32
Failure to validate association of mannose-binding lectin deficiency with adverse neurodevelopmental outcomes after cardiac surgery in infants. 61
31307150 2019
33
Risk factors of laryngeal cryptococcosis: A case report. 61
31080714 2019
34
Increased risk of group B Streptococcus causing meningitis in infants with mannose-binding lectin deficiency. 61
30832899 2019
35
Characteristics of Mannose-Binding Lectin Deficiency in Pediatric Septic Patients – Case Presentation. 61
31123513 2019
36
Undetectable mannose binding lectin is associated with HRCT proven bronchiectasis in rheumatoid arthritis (RA). 61
30970022 2019
37
Genetic mannose binding lectin deficiency is associated with airway microbiota diversity and reduced exacerbation frequency in COPD. 61
29101284 2018
38
Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants. 61
29452463 2018
39
Mannose-binding lectin deficiency associated with numerous paraspinal neurofibromas. 61
29162315 2018
40
Mannose-binding lectin deficiency and miscarriages in rheumatoid arthritis. 61
28898115 2017
41
Mannose-Binding Lectin Deficiency in Brazilian Patients with Spondyloarthritis. 61
27911110 2017
42
Mannose-binding lectin deficiency and predisposition to recurrent infection in adults. 61
26837313 2016
43
Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients. 61
27404661 2016
44
HIV-1 Vertical Transmission in Zimbabwe in 622 Mother and Infant Pairs: Rethinking the Contribution of Mannose Binding Lectin Deficiency in Africa. 61
27315016 2016
45
A case of relapsing-remitting facial palsy and ipsilateral brachial plexopathy caused by HSV-1. 61
26991053 2016
46
Mannose binding lectin deficiency and susceptibility to infections in patients with rheumatoid arthritis. 61
26667215 2016
47
Mild and moderate Mannose Binding Lectin deficiency are associated with systemic lupus erythematosus and lupus nephritis in Brazilian patients. 61
27267640 2016
48
Combined alpha-1-antitrypsin deficiency and mannose-binding lectin deficiency. 61
26519979 2016
49
Mannose-binding Lectin Deficiency in Patients with a History of Recurrent Infections. 61
26996114 2016
50
Infective endocarditis and mannose-binding lectin deficiency - A case report. 61
28979445 2015

Variations for Mannose-Binding Lectin Deficiency

ClinVar genetic disease variations for Mannose-Binding Lectin Deficiency:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MBL2 NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) SNV Pathogenic 14350 rs1800450 GRCh37: 10:54531235-54531235
GRCh38: 10:52771475-52771475
2 MBL2 NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) SNV Pathogenic 14352 rs5030737 GRCh37: 10:54531242-54531242
GRCh38: 10:52771482-52771482
3 MBL2 NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr) SNV Uncertain significance 1030691 GRCh37: 10:54528195-54528195
GRCh38: 10:52768435-52768435
4 MBL2 NM_000242.2(MBL2):c.*1134C>T SNV Uncertain significance 300135 rs11003121 GRCh37: 10:54526763-54526763
GRCh38: 10:52767003-52767003
5 MBL2 NM_000242.2(MBL2):c.*937A>G SNV Uncertain significance 300138 rs886047048 GRCh37: 10:54526960-54526960
GRCh38: 10:52767200-52767200
6 MBL2 NM_001378373.1(MBL2):c.132C>T (p.Asn44=) SNV Uncertain significance 403073 rs34120190 GRCh37: 10:54531264-54531264
GRCh38: 10:52771504-52771504
7 MBL2 NM_000242.2(MBL2):c.628G>T (p.Glu210Ter) SNV Uncertain significance 631637 rs74754826 GRCh37: 10:54528016-54528016
GRCh38: 10:52768256-52768256
8 MBL2 NM_000242.2(MBL2):c.*1711T>G SNV Uncertain significance 300121 rs12254557 GRCh37: 10:54526186-54526186
GRCh38: 10:52766426-52766426
9 MBL2 NM_000242.2(MBL2):c.*2727G>T SNV Uncertain significance 300104 rs138449358 GRCh37: 10:54525170-54525170
GRCh38: 10:52765410-52765410
10 MBL2 NM_000242.2(MBL2):c.483T>C (p.Ser161=) SNV Uncertain significance 300147 rs760332285 GRCh37: 10:54528161-54528161
GRCh38: 10:52768401-52768401
11 MBL2 NM_000242.2(MBL2):c.*1498C>T SNV Uncertain significance 300127 rs56009657 GRCh37: 10:54526399-54526399
GRCh38: 10:52766639-52766639
12 MBL2 NM_000242.2(MBL2):c.*289C>T SNV Uncertain significance 300144 rs886047050 GRCh37: 10:54527608-54527608
GRCh38: 10:52767848-52767848
13 MBL2 NM_000242.2(MBL2):c.*2470A>C SNV Uncertain significance 300107 rs886047043 GRCh37: 10:54525427-54525427
GRCh38: 10:52765667-52765667
14 MBL2 NM_000242.2(MBL2):c.*1088C>T SNV Uncertain significance 300136 rs56095345 GRCh37: 10:54526809-54526809
GRCh38: 10:52767049-52767049
15 MBL2 NM_000242.2(MBL2):c.*1287C>T SNV Uncertain significance 300130 rs551861672 GRCh37: 10:54526610-54526610
GRCh38: 10:52766850-52766850
16 MBL2 NM_000242.2(MBL2):c.*1136A>G SNV Uncertain significance 300133 rs115639140 GRCh37: 10:54526761-54526761
GRCh38: 10:52767001-52767001
17 MBL2 NM_000242.2(MBL2):c.*1995del Deletion Uncertain significance 300116 rs751460283 GRCh37: 10:54525902-54525902
GRCh38: 10:52766142-52766142
18 MBL2 NM_000242.2(MBL2):c.302C>T (p.Pro101Leu) SNV Uncertain significance 300149 rs143562102 GRCh37: 10:54530432-54530432
GRCh38: 10:52770672-52770672
19 MBL2 NM_000242.2(MBL2):c.-14C>G SNV Uncertain significance 300152 rs184683428 GRCh37: 10:54531409-54531409
GRCh38: 10:52771649-52771649
20 MBL2 NM_000242.2(MBL2):c.*447G>C SNV Uncertain significance 300142 rs374583038 GRCh37: 10:54527450-54527450
GRCh38: 10:52767690-52767690
21 MBL2 NM_000242.2(MBL2):c.*1695G>T SNV Uncertain significance 300122 rs35768126 GRCh37: 10:54526202-54526202
GRCh38: 10:52766442-52766442
22 MBL2 NM_000242.2(MBL2):c.*865A>C SNV Uncertain significance 300139 rs55714260 GRCh37: 10:54527032-54527032
GRCh38: 10:52767272-52767272
23 MBL2 NM_000242.2(MBL2):c.*2702G>A SNV Uncertain significance 300105 rs114932753 GRCh37: 10:54525195-54525195
GRCh38: 10:52765435-52765435
24 MBL2 NM_000242.2(MBL2):c.166A>G (p.Lys56Glu) SNV Uncertain significance 300150 rs886047052 GRCh37: 10:54531230-54531230
GRCh38: 10:52771470-52771470
25 MBL2 NM_000242.2(MBL2):c.*282A>G SNV Uncertain significance 300145 rs886047051 GRCh37: 10:54527615-54527615
GRCh38: 10:52767855-52767855
26 MBL2 NM_000242.2(MBL2):c.*1452A>T SNV Uncertain significance 300128 rs186828712 GRCh37: 10:54526445-54526445
GRCh38: 10:52766685-52766685
27 MBL2 NM_000242.2(MBL2):c.*1569A>G SNV Uncertain significance 300125 rs754268753 GRCh37: 10:54526328-54526328
GRCh38: 10:52766568-52766568
28 MBL2 NM_000242.2(MBL2):c.*2450A>T SNV Uncertain significance 300108 rs56325023 GRCh37: 10:54525447-54525447
GRCh38: 10:52765687-52765687
29 MBL2 NM_000242.2(MBL2):c.*1135A>G SNV Uncertain significance 300134 rs11595876 GRCh37: 10:54526762-54526762
GRCh38: 10:52767002-52767002
30 MBL2 NM_000242.2(MBL2):c.*2067C>T SNV Uncertain significance 300111 rs542103508 GRCh37: 10:54525830-54525830
GRCh38: 10:52766070-52766070
31 MBL2 NM_000242.2(MBL2):c.*953T>C SNV Uncertain significance 300137 rs886047047 GRCh37: 10:54526944-54526944
GRCh38: 10:52767184-52767184
32 MBL2 NM_000242.2(MBL2):c.*1819T>C SNV Uncertain significance 300120 rs774307463 GRCh37: 10:54526078-54526078
GRCh38: 10:52766318-52766318
33 MBL2 NM_000242.2(MBL2):c.*99T>G SNV Uncertain significance 300146 rs553395892 GRCh37: 10:54527798-54527798
GRCh38: 10:52768038-52768038
34 MBL2 NM_000242.2(MBL2):c.*1568C>T SNV Uncertain significance 300126 rs886047045 GRCh37: 10:54526329-54526329
GRCh38: 10:52766569-52766569
35 MBL2 NM_000242.2(MBL2):c.*324C>T SNV Uncertain significance 300143 rs551192639 GRCh37: 10:54527573-54527573
GRCh38: 10:52767813-52767813
36 MBL2 NM_000242.2(MBL2):c.*1694G>T SNV Uncertain significance 300123 rs35327474 GRCh37: 10:54526203-54526203
GRCh38: 10:52766443-52766443
37 MBL2 NM_000242.2(MBL2):c.*675C>T SNV Uncertain significance 300140 rs56213573 GRCh37: 10:54527222-54527222
GRCh38: 10:52767462-52767462
38 MBL2 NM_000242.2(MBL2):c.163A>G (p.Thr55Ala) SNV Uncertain significance 300151 rs886047053 GRCh37: 10:54531233-54531233
GRCh38: 10:52771473-52771473
39 MBL2 NM_000242.2(MBL2):c.*1144A>G SNV Uncertain significance 300132 rs886047046 GRCh37: 10:54526753-54526753
GRCh38: 10:52766993-52766993
40 MBL2 NM_000242.2(MBL2):c.*1429A>C SNV Uncertain significance 300129 rs577771508 GRCh37: 10:54526468-54526468
GRCh38: 10:52766708-52766708
41 MBL2 NM_000242.2(MBL2):c.*2066G>T SNV Uncertain significance 300112 rs886047044 GRCh37: 10:54525831-54525831
GRCh38: 10:52766071-52766071
42 MBL2 NM_000242.2(MBL2):c.*2477C>T SNV Uncertain significance 300106 rs55855374 GRCh37: 10:54525420-54525420
GRCh38: 10:52765660-52765660
43 MBL2 NM_000242.2(MBL2):c.*674A>G SNV Uncertain significance 300141 rs886047049 GRCh37: 10:54527223-54527223
GRCh38: 10:52767463-52767463
44 MBL2 NM_000242.2(MBL2):c.*2033G>A SNV Uncertain significance 300115 rs544901610 GRCh37: 10:54525864-54525864
GRCh38: 10:52766104-52766104
45 MBL2 NM_001378373.1(MBL2):c.*2751A>C SNV Uncertain significance 877096 GRCh37: 10:54525146-54525146
GRCh38: 10:52765386-52765386
46 MBL2 NM_001378373.1(MBL2):c.*2648C>A SNV Uncertain significance 877097 GRCh37: 10:54525249-54525249
GRCh38: 10:52765489-52765489
47 MBL2 NM_001378373.1(MBL2):c.*1448C>T SNV Uncertain significance 877159 GRCh37: 10:54526449-54526449
GRCh38: 10:52766689-52766689
48 MBL2 NM_001378373.1(MBL2):c.*1252A>C SNV Uncertain significance 877160 GRCh37: 10:54526645-54526645
GRCh38: 10:52766885-52766885
49 MBL2 NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys) SNV Uncertain significance 877212 GRCh37: 10:54528064-54528064
GRCh38: 10:52768304-52768304
50 MBL2 NM_001378373.1(MBL2):c.549C>T (p.Phe183=) SNV Uncertain significance 877213 GRCh37: 10:54528095-54528095
GRCh38: 10:52768335-52768335

Expression for Mannose-Binding Lectin Deficiency

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

Pathways for Mannose-Binding Lectin Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 MBL2 MASP2 IL6 FCN3 FCN1 CFP
2 11.66 MBL2 MASP2 C5AR1
3
Show member pathways
11.55 MBL2 MASP2 FCN3 CFP C5AR1
4 11.42 MBL2 MASP2 C5AR1
5
Show member pathways
11.24 MBL2 MASP2 CFP
6
Show member pathways
11.18 MBL2 MASP2 FCN3 FCN1 C5AR1

GO Terms for Mannose-Binding Lectin Deficiency

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 9.73 MBL2 MASP2 IL6 FCN3 FCN1 CFP
2 extracellular space GO:0005615 9.63 MBL2 MASP2 IL6 FCN3 FCN1 CFP
3 collagen-containing extracellular matrix GO:0062023 9.26 MBL2 FCN3 FCN1 CFP
4 collagen trimer GO:0005581 8.8 MBL2 FCN3 FCN1

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 response GO:0006955 9.7 IL6 CFP C5AR1
2 neutrophil degranulation GO:0043312 9.69 FCN1 CFP C5AR1
3 immune system process GO:0002376 9.65 MBL2 MASP2 FCN3 FCN1 CFP
4 defense response to Gram-positive bacterium GO:0050830 9.58 MBL2 IL6 C5AR1
5 innate immune response GO:0045087 9.55 MBL2 MASP2 FCN3 FCN1 CFP
6 positive regulation of interleukin-8 production GO:0032757 9.49 IL6 FCN1
7 acute-phase response GO:0006953 9.48 MBL2 IL6
8 positive regulation of vascular endothelial growth factor production GO:0010575 9.46 IL6 C5AR1
9 negative regulation of viral entry into host cell GO:0046597 9.43 FCN3 FCN1
10 response to peptidoglycan GO:0032494 9.37 IL6 C5AR1
11 complement activation GO:0006956 9.35 MBL2 MASP2 FCN3 FCN1 CFP
12 recognition of apoptotic cell GO:0043654 9.32 FCN3 FCN1
13 complement activation, lectin pathway GO:0001867 8.92 MBL2 MASP2 FCN3 FCN1

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 8.96 MBL2 MASP2
2 carbohydrate binding GO:0030246 8.8 MBL2 FCN3 FCN1

Sources for Mannose-Binding Lectin 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
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