MASPD
MCID: MSP001
MIFTS: 27

Masp2 Deficiency (MASPD)

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

Aliases & Classifications for Masp2 Deficiency

MalaCards integrated aliases for Masp2 Deficiency:

Name: Masp2 Deficiency 57 72 29 13 6 39 70
Lcapd2 57 72
Lectin Complement Activation Pathway, Defect in, 2; Lcapd2 57
Lectin Complement Activation Pathway, Defect in, 2 57
Defect in Lectin Complement Activation Pathway, 2 72
Immunodeficiency Due to Masp-2 Deficiency 58
Maspd 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
up to 5 or 18% % of healthy individuals may have masp2 deficiency and be asymptomatic depending on the population


HPO:

31
masp2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 613791
OMIM Phenotypic Series 57 PS614372
MeSH 44 D007154
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 71 C3151085
Orphanet 58 ORPHA331187
MedGen 41 C3151085
UMLS 70 C3151085

Summaries for Masp2 Deficiency

OMIM® : 57 MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some African populations. Some MASP2-deficient individuals have increased risk of infection or autoimmune disease, but most are asymptomatic. MASP2 plays a role in activation of the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Thiel et al., 2007 and Sokolowska et al., 2015). For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372). (613791) (Updated 05-Apr-2021)

MalaCards based summary : Masp2 Deficiency, also known as lcapd2, is related to frontotemporal dementia and dementia. An important gene associated with Masp2 Deficiency is MASP2 (MBL Associated Serine Protease 2). Related phenotypes are recurrent pneumonia and systemic lupus erythematosus

UniProtKB/Swiss-Prot : 72 MASP2 deficiency: A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease.

Wikipedia : 73 Mannan-binding lectin serine protease 2 also known as mannose-binding protein-associated serine protease... more...

Related Diseases for Masp2 Deficiency

Diseases related to Masp2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia 9.6 TARDBP MASP2
2 dementia 9.5 TARDBP MASP2

Symptoms & Phenotypes for Masp2 Deficiency

Human phenotypes related to Masp2 Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 recurrent pneumonia 31 very rare (1%) HP:0006532
2 systemic lupus erythematosus 31 very rare (1%) HP:0002725
3 complement deficiency 31 very rare (1%) HP:0004431
4 ulcerative colitis 31 very rare (1%) HP:0100279

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
increased susceptibility to infection (in some patients)
defective activation of the complement system

Laboratory Abnormalities:
decreased levels of circulating masp2

Clinical features from OMIM®:

613791 (Updated 05-Apr-2021)

Drugs & Therapeutics for Masp2 Deficiency

Search Clinical Trials , NIH Clinical Center for Masp2 Deficiency

Genetic Tests for Masp2 Deficiency

Genetic tests related to Masp2 Deficiency:

# Genetic test Affiliating Genes
1 Masp2 Deficiency 29 MASP2

Anatomical Context for Masp2 Deficiency

Publications for Masp2 Deficiency

Articles related to Masp2 Deficiency:

# Title Authors PMID Year
1
Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control. 57 6
24658431 2015
2
Mannan-binding lectin-associated serine protease-2 (MASP-2) in a large cohort of neonates and its clinical associations. 6 57
19307021 2009
3
Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. 57 6
17252003 2007
4
Inherited deficiency of mannan-binding lectin-associated serine protease 2. 57 6
12904520 2003
5
Lectin pathway of complement activation in a Polish woman with MASP-2 deficiency. 6
24332888 2014
6
Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. 6
19234189 2009
7
Low clinical penetrance of mannose-binding lectin-associated serine protease 2 deficiency. 6
17137870 2006
8
Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. 6
15086395 2004

Variations for Masp2 Deficiency

ClinVar genetic disease variations for Masp2 Deficiency:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MASP2 NM_006610.4(MASP2):c.1126C>T (p.Arg376Ter) SNV Pathogenic 998211 GRCh37: 1:11090901-11090901
GRCh38: 1:11030844-11030844
2 MASP2 NM_006610.4(MASP2):c.505dup (p.Ala169fs) Duplication Pathogenic 1032466 GRCh37: 1:11105503-11105504
GRCh38: 1:11045446-11045447
3 MASP2 NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) SNV Likely pathogenic 5210 rs72550870 GRCh37: 1:11106666-11106666
GRCh38: 1:11046609-11046609
4 MASP2 NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) SNV Conflicting interpretations of pathogenicity 874902 GRCh37: 1:11106673-11106673
GRCh38: 1:11046616-11046616
5 MASP2 , TARDBP NM_006610.4(MASP2):c.1972A>G (p.Met658Val) SNV Uncertain significance 876733 GRCh37: 1:11087031-11087031
GRCh38: 1:11026974-11026974
6 MASP2 , TARDBP NM_006610.4(MASP2):c.*64C>T SNV Uncertain significance 876732 GRCh37: 1:11086878-11086878
GRCh38: 1:11026821-11026821
7 MASP2 NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr) SNV Uncertain significance 874852 GRCh37: 1:11090840-11090840
GRCh38: 1:11030783-11030783
8 MASP2 NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp) SNV Uncertain significance 874851 GRCh37: 1:11090836-11090836
GRCh38: 1:11030779-11030779
9 MASP2 NM_006610.4(MASP2):c.1213G>A (p.Val405Met) SNV Uncertain significance 874850 GRCh37: 1:11090814-11090814
GRCh38: 1:11030757-11030757
10 MASP2 , TARDBP NM_006610.4(MASP2):c.1231G>A (p.Val411Met) SNV Uncertain significance 874849 GRCh37: 1:11090299-11090299
GRCh38: 1:11030242-11030242
11 MASP2 , TARDBP NM_006610.4(MASP2):c.1314C>T (p.Ala438=) SNV Uncertain significance 874848 GRCh37: 1:11087689-11087689
GRCh38: 1:11027632-11027632
12 MASP2 NM_006610.4(MASP2):c.86G>A (p.Arg29His) SNV Uncertain significance 876830 GRCh37: 1:11107096-11107096
GRCh38: 1:11047039-11047039
13 MASP2 NM_006610.4(MASP2):c.626C>T (p.Ser209Phe) SNV Uncertain significance 876782 GRCh37: 1:11103511-11103511
GRCh38: 1:11043454-11043454
14 MASP2 , TARDBP NM_006610.4(MASP2):c.*212A>G SNV Uncertain significance 876731 GRCh37: 1:11086730-11086730
GRCh38: 1:11026673-11026673
15 MASP2 NM_006610.4(MASP2):c.100G>A (p.Gly34Ser) SNV Uncertain significance 875841 GRCh37: 1:11107082-11107082
GRCh38: 1:11047025-11047025
16 MASP2 NM_006610.4(MASP2):c.154C>T (p.Pro52Ser) SNV Uncertain significance 875840 GRCh37: 1:11107028-11107028
GRCh38: 1:11046971-11046971
17 MASP2 NM_006610.4(MASP2):c.172C>T (p.Arg58Cys) SNV Uncertain significance 875839 GRCh37: 1:11107010-11107010
GRCh38: 1:11046953-11046953
18 MASP2 NM_006610.4(MASP2):c.223G>A (p.Asp75Asn) SNV Uncertain significance 875838 GRCh37: 1:11106959-11106959
GRCh38: 1:11046902-11046902
19 MASP2 NM_006610.4(MASP2):c.229G>A (p.Val77Ile) SNV Uncertain significance 875837 GRCh37: 1:11106953-11106953
GRCh38: 1:11046896-11046896
20 MASP2 , TARDBP NM_006610.4(MASP2):c.*220A>G SNV Uncertain significance 875741 GRCh37: 1:11086722-11086722
GRCh38: 1:11026665-11026665
21 MASP2 , TARDBP NM_006610.4(MASP2):c.*282C>A SNV Uncertain significance 875740 GRCh37: 1:11086660-11086660
GRCh38: 1:11026603-11026603
22 MASP2 , TARDBP NM_006610.4(MASP2):c.*311T>C SNV Uncertain significance 875739 GRCh37: 1:11086631-11086631
GRCh38: 1:11026574-11026574
23 MASP2 NM_006610.4(MASP2):c.277G>C (p.Glu93Gln) SNV Uncertain significance 874903 GRCh37: 1:11106748-11106748
GRCh38: 1:11046691-11046691
24 MASP2 NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr) SNV Uncertain significance 1032464 GRCh37: 1:11094894-11094894
GRCh38: 1:11034837-11034837
25 MASP2 NM_006610.4(MASP2):c.503G>A (p.Arg168His) SNV Uncertain significance 1032465 GRCh37: 1:11105506-11105506
GRCh38: 1:11045449-11045449
26 MASP2 NM_006610.4(MASP2):c.446C>T (p.Ala149Val) SNV Uncertain significance 873964 GRCh37: 1:11105563-11105563
GRCh38: 1:11045506-11045506
27 MASP2 NM_006610.4(MASP2):c.437C>T (p.Pro146Leu) SNV Uncertain significance 873965 GRCh37: 1:11105572-11105572
GRCh38: 1:11045515-11045515
28 MASP2 NM_006610.4(MASP2):c.263C>T (p.Thr88Met) SNV Uncertain significance 992550 GRCh37: 1:11106762-11106762
GRCh38: 1:11046705-11046705
29 MASP2 NM_006610.4(MASP2):c.612G>T (p.Pro204=) SNV Uncertain significance 291797 rs72550853 GRCh37: 1:11103525-11103525
GRCh38: 1:11043468-11043468
30 MASP2 NM_006610.4(MASP2):c.383C>T (p.Thr128Met) SNV Uncertain significance 291806 rs141145402 GRCh37: 1:11106642-11106642
GRCh38: 1:11046585-11046585
31 MASP2 NM_006610.4(MASP2):c.828C>G (p.Ile276Met) SNV Uncertain significance 291792 rs149800848 GRCh37: 1:11102993-11102993
GRCh38: 1:11042936-11042936
32 MASP2 NM_006610.4(MASP2):c.967A>C (p.Ser323Arg) SNV Uncertain significance 291789 rs771074354 GRCh37: 1:11097791-11097791
GRCh38: 1:11037734-11037734
33 MASP2 NM_006610.4(MASP2):c.231C>T (p.Val77=) SNV Uncertain significance 291811 rs140239262 GRCh37: 1:11106951-11106951
GRCh38: 1:11046894-11046894
34 MASP2 , TARDBP NM_006610.4(MASP2):c.1574A>G (p.His525Arg) SNV Uncertain significance 626137 rs745359886 GRCh37: 1:11087429-11087429
GRCh38: 1:11027372-11027372
35 MASP2 NM_006610.4(MASP2):c.242C>A (p.Ser81Ter) SNV Uncertain significance 631561 rs148831269 GRCh37: 1:11106783-11106783
GRCh38: 1:11046726-11046726
36 MASP2 NM_006610.4(MASP2):c.412+1G>A SNV Uncertain significance 632078 rs781037969 GRCh37: 1:11106612-11106612
GRCh38: 1:11046555-11046555
37 MASP2 , TARDBP NM_007375.4(TARDBP):c.*2123T>C SNV Uncertain significance 873851 GRCh37: 1:11084834-11084834
GRCh38: 1:11024777-11024777
38 MASP2 , TARDBP NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) SNV Uncertain significance 873902 GRCh37: 1:11087117-11087117
GRCh38: 1:11027060-11027060
39 MASP2 , TARDBP NM_006610.4(MASP2):c.1470T>G (p.His490Gln) SNV Uncertain significance 873903 GRCh37: 1:11087533-11087533
GRCh38: 1:11027476-11027476
40 MASP2 , TARDBP NM_006610.4(MASP2):c.1468C>T (p.His490Tyr) SNV Uncertain significance 873904 GRCh37: 1:11087535-11087535
GRCh38: 1:11027478-11027478
41 MASP2 NM_006610.4(MASP2):c.81C>T (p.Phe27=) SNV Uncertain significance 291814 rs886045056 GRCh37: 1:11107101-11107101
GRCh38: 1:11047044-11047044
42 MASP2 , TARDBP NM_006610.4(MASP2):c.*171A>C SNV Uncertain significance 291775 rs183998926 GRCh37: 1:11086771-11086771
GRCh38: 1:11026714-11026714
43 MASP2 , TARDBP NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile) SNV Uncertain significance 291778 rs202214079 GRCh37: 1:11087276-11087276
GRCh38: 1:11027219-11027219
44 MASP2 NM_006610.4(MASP2):c.395C>T (p.Ala132Val) SNV Uncertain significance 291804 rs144632025 GRCh37: 1:11106630-11106630
GRCh38: 1:11046573-11046573
45 MASP2 NM_006610.4(MASP2):c.1080G>A (p.Ala360=) SNV Uncertain significance 291787 rs774776055 GRCh37: 1:11094892-11094892
GRCh38: 1:11034835-11034835
46 MASP2 NM_006610.4(MASP2):c.159C>T (p.Pro53=) SNV Uncertain significance 291812 rs376802078 GRCh37: 1:11107023-11107023
GRCh38: 1:11046966-11046966
47 MASP2 , TARDBP NM_006610.4(MASP2):c.*219C>T SNV Uncertain significance 291773 rs775881603 GRCh37: 1:11086723-11086723
GRCh38: 1:11026666-11026666
48 MASP2 NM_006610.4(MASP2):c.808A>C (p.Lys270Gln) SNV Uncertain significance 291793 rs886045054 GRCh37: 1:11103013-11103013
GRCh38: 1:11042956-11042956
49 MASP2 , TARDBP NM_006610.4(MASP2):c.*111C>T SNV Uncertain significance 291776 rs886045052 GRCh37: 1:11086831-11086831
GRCh38: 1:11026774-11026774
50 MASP2 NM_006610.4(MASP2):c.661T>C (p.Phe221Leu) SNV Uncertain significance 291796 rs756947952 GRCh37: 1:11103476-11103476
GRCh38: 1:11043419-11043419

UniProtKB/Swiss-Prot genetic disease variations for Masp2 Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 MASP2 p.Asp120Gly VAR_025346 rs72550870
2 MASP2 p.Pro126Leu VAR_025347 rs56392418

Expression for Masp2 Deficiency

Search GEO for disease gene expression data for Masp2 Deficiency.

Pathways for Masp2 Deficiency

GO Terms for Masp2 Deficiency

Molecular functions related to Masp2 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 TARDBP MASP2

Sources for Masp2 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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