MASPD
MCID: MSP001
MIFTS: 20

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 75 29 13 6 40 73
Lcapd2 57 75
Lectin Complement Activation Pathway, Defect in, 2; Lcapd2 57
Lectin Complement Activation Pathway, Defect in, 2 57
Defect in Lectin Complement Activation Pathway, 2 75
Immunodeficiency Due to Masp-2 Deficiency 59
Maspd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 613791
Orphanet 59 ORPHA331187
ICD10 via Orphanet 34 D84.1
UMLS via Orphanet 74 C3151085
MedGen 42 C3151085
MeSH 44 D007154
UMLS 73 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)

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

UniProtKB/Swiss-Prot : 75 MASP2 deficiency: A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease.

Wikipedia : 76 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 9.7 MASP2 TARDBP

Symptoms & Phenotypes for Masp2 Deficiency

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Masp2 Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 recurrent pneumonia 32 very rare (1%) HP:0006532
2 systemic lupus erythematosus 32 very rare (1%) HP:0002725
3 ulcerative colitis 32 very rare (1%) HP:0100279
4 complement deficiency 32 very rare (1%) HP:0004431

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

Variations for Masp2 Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 MASP2 p.Asp120Gly VAR_025346 rs72550870
2 MASP2 p.Pro126Leu VAR_025347 rs56392418

ClinVar genetic disease variations for Masp2 Deficiency:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 MASP2 NM_006610.3(MASP2): c.359A> G (p.Asp120Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72550870 GRCh37 Chromosome 1, 11106666: 11106666
2 MASP2 NM_006610.3(MASP2): c.359A> G (p.Asp120Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72550870 GRCh38 Chromosome 1, 11046609: 11046609
3 MASP2 NM_006610.3(MASP2): c.1142C> T (p.Thr381Ile) single nucleotide variant Uncertain significance rs143981111 GRCh37 Chromosome 1, 11090885: 11090885
4 MASP2 NM_006610.3(MASP2): c.*219C> T single nucleotide variant Uncertain significance rs775881603 GRCh38 Chromosome 1, 11026666: 11026666
5 MASP2 NM_006610.3(MASP2): c.*219C> T single nucleotide variant Uncertain significance rs775881603 GRCh37 Chromosome 1, 11086723: 11086723
6 MASP2 NM_006610.3(MASP2): c.*171A> C single nucleotide variant Uncertain significance rs183998926 GRCh38 Chromosome 1, 11026714: 11026714
7 MASP2 NM_006610.3(MASP2): c.*171A> C single nucleotide variant Uncertain significance rs183998926 GRCh37 Chromosome 1, 11086771: 11086771
8 MASP2 NM_006610.3(MASP2): c.*111C> T single nucleotide variant Uncertain significance rs886045052 GRCh38 Chromosome 1, 11026774: 11026774
9 MASP2 NM_006610.3(MASP2): c.*111C> T single nucleotide variant Uncertain significance rs886045052 GRCh37 Chromosome 1, 11086831: 11086831
10 MASP2; TARDBP NM_006610.3(MASP2): c.1479C> T (p.Ser493=) single nucleotide variant Benign rs1782455 GRCh37 Chromosome 1, 11087524: 11087524
11 MASP2; TARDBP NM_006610.3(MASP2): c.1479C> T (p.Ser493=) single nucleotide variant Benign rs1782455 GRCh38 Chromosome 1, 11027467: 11027467
12 MASP2 NM_006610.3(MASP2): c.1142C> T (p.Thr381Ile) single nucleotide variant Uncertain significance rs143981111 GRCh38 Chromosome 1, 11030828: 11030828
13 MASP2 NM_006610.3(MASP2): c.967A> C (p.Ser323Arg) single nucleotide variant Uncertain significance rs771074354 GRCh38 Chromosome 1, 11037734: 11037734
14 MASP2 NM_006610.3(MASP2): c.967A> C (p.Ser323Arg) single nucleotide variant Uncertain significance rs771074354 GRCh37 Chromosome 1, 11097791: 11097791
15 MASP2 NM_006610.3(MASP2): c.891G> A (p.Ala297=) single nucleotide variant Benign rs12142107 GRCh38 Chromosome 1, 11037810: 11037810
16 MASP2 NM_006610.3(MASP2): c.891G> A (p.Ala297=) single nucleotide variant Benign rs12142107 GRCh37 Chromosome 1, 11097867: 11097867
17 MASP2; TARDBP NM_007375.3(TARDBP): c.*2331A> G single nucleotide variant Likely benign rs114897688 GRCh38 Chromosome 1, 11024985: 11024985
18 MASP2; TARDBP NM_007375.3(TARDBP): c.*2331A> G single nucleotide variant Likely benign rs114897688 GRCh37 Chromosome 1, 11085042: 11085042
19 MASP2 NM_006610.3(MASP2): c.742-12C> T single nucleotide variant Uncertain significance rs201703577 GRCh38 Chromosome 1, 11043034: 11043034
20 MASP2 NM_006610.3(MASP2): c.742-12C> T single nucleotide variant Uncertain significance rs201703577 GRCh37 Chromosome 1, 11103091: 11103091
21 MASP2 NM_006610.3(MASP2): c.555C> T (p.Ser185=) single nucleotide variant Likely benign rs78775425 GRCh37 Chromosome 1, 11103582: 11103582
22 MASP2 NM_006610.3(MASP2): c.555C> T (p.Ser185=) single nucleotide variant Likely benign rs78775425 GRCh38 Chromosome 1, 11043525: 11043525
23 MASP2 NM_006610.3(MASP2): c.507A> G (p.Ala169=) single nucleotide variant Uncertain significance rs201972294 GRCh37 Chromosome 1, 11105502: 11105502
24 MASP2 NM_006610.3(MASP2): c.507A> G (p.Ala169=) single nucleotide variant Uncertain significance rs201972294 GRCh38 Chromosome 1, 11045445: 11045445
25 MASP2 NM_006610.3(MASP2): c.470A> G (p.His157Arg) single nucleotide variant Uncertain significance rs144247267 GRCh37 Chromosome 1, 11105539: 11105539
26 MASP2 NM_006610.3(MASP2): c.470A> G (p.His157Arg) single nucleotide variant Uncertain significance rs144247267 GRCh38 Chromosome 1, 11045482: 11045482
27 MASP2 NM_006610.3(MASP2): c.467G> A (p.Cys156Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs41307788 GRCh37 Chromosome 1, 11105542: 11105542
28 MASP2 NM_006610.3(MASP2): c.467G> A (p.Cys156Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs41307788 GRCh38 Chromosome 1, 11045485: 11045485
29 MASP2 NM_006610.3(MASP2): c.420C> T (p.Asp140=) single nucleotide variant Uncertain significance rs760062530 GRCh37 Chromosome 1, 11105589: 11105589
30 MASP2 NM_006610.3(MASP2): c.420C> T (p.Asp140=) single nucleotide variant Uncertain significance rs760062530 GRCh38 Chromosome 1, 11045532: 11045532
31 MASP2 NM_006610.3(MASP2): c.234+6G> A single nucleotide variant Uncertain significance rs183487544 GRCh37 Chromosome 1, 11106942: 11106942
32 MASP2 NM_006610.3(MASP2): c.234+6G> A single nucleotide variant Uncertain significance rs183487544 GRCh38 Chromosome 1, 11046885: 11046885
33 MASP2; TARDBP NM_006610.3(MASP2): c.*225T> C single nucleotide variant Benign rs1033638 GRCh38 Chromosome 1, 11026660: 11026660
34 MASP2; TARDBP NM_006610.3(MASP2): c.*225T> C single nucleotide variant Benign rs1033638 GRCh37 Chromosome 1, 11086717: 11086717
35 MASP2 NM_006610.3(MASP2): c.*189G> A single nucleotide variant Uncertain significance rs116311214 GRCh38 Chromosome 1, 11026696: 11026696
36 MASP2 NM_006610.3(MASP2): c.*189G> A single nucleotide variant Uncertain significance rs116311214 GRCh37 Chromosome 1, 11086753: 11086753
37 MASP2; TARDBP NM_006610.3(MASP2): c.1617T> C (p.Asn539=) single nucleotide variant Likely benign rs72550845 GRCh37 Chromosome 1, 11087386: 11087386
38 MASP2; TARDBP NM_006610.3(MASP2): c.1617T> C (p.Asn539=) single nucleotide variant Likely benign rs72550845 GRCh38 Chromosome 1, 11027329: 11027329
39 MASP2 NM_006610.3(MASP2): c.1130T> C (p.Val377Ala) single nucleotide variant Likely benign rs2273346 GRCh38 Chromosome 1, 11030840: 11030840
40 MASP2 NM_006610.3(MASP2): c.1130T> C (p.Val377Ala) single nucleotide variant Likely benign rs2273346 GRCh37 Chromosome 1, 11090897: 11090897
41 MASP2 NM_006610.3(MASP2): c.882G> A (p.Thr294=) single nucleotide variant Likely benign rs61735598 GRCh38 Chromosome 1, 11042882: 11042882
42 MASP2 NM_006610.3(MASP2): c.882G> A (p.Thr294=) single nucleotide variant Likely benign rs61735598 GRCh37 Chromosome 1, 11102939: 11102939
43 MASP2 NM_006610.3(MASP2): c.729C> T (p.Tyr243=) single nucleotide variant Benign rs7536030 GRCh38 Chromosome 1, 11043351: 11043351
44 MASP2 NM_006610.3(MASP2): c.729C> T (p.Tyr243=) single nucleotide variant Benign rs7536030 GRCh37 Chromosome 1, 11103408: 11103408
45 MASP2 NM_006610.3(MASP2): c.612G> T (p.Pro204=) single nucleotide variant Uncertain significance rs72550853 GRCh37 Chromosome 1, 11103525: 11103525
46 MASP2 NM_006610.3(MASP2): c.612G> T (p.Pro204=) single nucleotide variant Uncertain significance rs72550853 GRCh38 Chromosome 1, 11043468: 11043468
47 MASP2 NM_006610.3(MASP2): c.383C> T (p.Thr128Met) single nucleotide variant Uncertain significance rs141145402 GRCh37 Chromosome 1, 11106642: 11106642
48 MASP2 NM_006610.3(MASP2): c.383C> T (p.Thr128Met) single nucleotide variant Uncertain significance rs141145402 GRCh38 Chromosome 1, 11046585: 11046585
49 MASP2 NM_006610.3(MASP2): c.377C> T (p.Pro126Leu) single nucleotide variant Likely benign rs56392418 GRCh37 Chromosome 1, 11106648: 11106648
50 MASP2 NM_006610.3(MASP2): c.377C> T (p.Pro126Leu) single nucleotide variant Likely benign rs56392418 GRCh38 Chromosome 1, 11046591: 11046591

Expression for Masp2 Deficiency

Search GEO for disease gene expression data for Masp2 Deficiency.

Pathways for Masp2 Deficiency

GO Terms for Masp2 Deficiency

Sources for Masp2 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
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
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