Aliases & Classifications for Alpha-2-Macroglobulin Deficiency

MalaCards integrated aliases for Alpha-2-Macroglobulin Deficiency:

Name: Alpha-2-Macroglobulin Deficiency 57 29 13 40 73
Alpha-2-Macroglobulin 13
A2md 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
alpha-2-macroglobulin deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 614036
MedGen 42 C3279661
SNOMED-CT via HPO 69 263681008
UMLS 73 C3279661

Summaries for Alpha-2-Macroglobulin Deficiency

MalaCards based summary : Alpha-2-Macroglobulin Deficiency, also known as alpha-2-macroglobulin, is related to alzheimer disease and periodontitis. An important gene associated with Alpha-2-Macroglobulin Deficiency is A2M (Alpha-2-Macroglobulin), and among its related pathways/superpathways are Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include liver, prostate and lung, and related phenotype is Decreased viability in esophageal squamous lineage.

Wikipedia : 76 alpha-2-Macroglobulin (α2M) is a large (720 KDa) plasma protein found in the blood. It is mainly... more...

Description from OMIM: 614036

Related Diseases for Alpha-2-Macroglobulin Deficiency

Diseases related to Alpha-2-Macroglobulin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 10.4
2 periodontitis 10.2
3 aging 10.0
4 osteonecrosis 10.0
5 prostate cancer 9.9
6 lung disease 9.9
7 colorectal cancer 9.9
8 multiple sclerosis 9.9
9 pancreatic cancer 9.9
10 periodontitis, chronic 9.9
11 insulin-like growth factor i 9.9
12 adult respiratory distress syndrome 9.9
13 hepatitis 9.9
14 osteoarthritis 9.9
15 renal fibrosis 9.9
16 mastitis 9.9
17 chagas disease 9.9
18 hepatitis c 9.9
19 acute pancreatitis 9.9
20 hyperglycemia 9.9
21 pancreatitis 9.9
22 peritonitis 9.9
23 influenza 9.9
24 pemphigus 9.9
25 sickle cell disease 9.9
26 depression 9.9
27 opioid addiction 9.9
28 paraneoplastic pemphigus 9.9
29 prostatitis 9.7 KLK3 PROS1

Graphical network of the top 20 diseases related to Alpha-2-Macroglobulin Deficiency:



Diseases related to Alpha-2-Macroglobulin Deficiency

Symptoms & Phenotypes for Alpha-2-Macroglobulin Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
decreased serum alpha-2 macroglobulin levels


Clinical features from OMIM:

614036

GenomeRNAi Phenotypes related to Alpha-2-Macroglobulin Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 8.8 A2M KLK3 PROS1

Drugs & Therapeutics for Alpha-2-Macroglobulin Deficiency

Search Clinical Trials , NIH Clinical Center for Alpha-2-Macroglobulin Deficiency

Genetic Tests for Alpha-2-Macroglobulin Deficiency

Genetic tests related to Alpha-2-Macroglobulin Deficiency:

# Genetic test Affiliating Genes
1 Alpha-2-Macroglobulin Deficiency 29 A2M

Anatomical Context for Alpha-2-Macroglobulin Deficiency

MalaCards organs/tissues related to Alpha-2-Macroglobulin Deficiency:

41
Liver, Prostate, Lung, Brain, Endothelial, Monocytes, Smooth Muscle

Publications for Alpha-2-Macroglobulin Deficiency

Articles related to Alpha-2-Macroglobulin Deficiency:

(show top 50) (show all 763)
# Title Authors Year
1
High Serum Alpha-2-Macroglobulin Level in Patients with Osteonecrosis of the Femoral Head. ( 29911139 )
2018
2
Alpha-2-macroglobulin as a Promising Biological Marker of Endothelial Function. ( 29093276 )
2018
3
PSA-alpha-2-macroglobulin complex is enzymatically active in the serum of patients with advanced prostate cancer and can degrade circulating peptide hormones. ( 29659051 )
2018
4
The Protobothrops flavoviridis Hemorrhagic Metalloproteinase HR2 Is Inhibited by Human Alpha 2-Macroglobulin. ( 29709984 )
2018
5
Interaction of anti-cancer drug-cisplatin with major proteinase inhibitor-alpha-2-macroglobulin: Biophysical and thermodynamic analysis. ( 29751037 )
2018
6
Insight into the interactions of proteinase inhibitor- alpha-2-macroglobulin with hypochlorite. ( 29778882 )
2018
7
Binding interaction of sheep alpha-2-macroglobulin and tannic acid: A spectroscopic and thermodynamic study. ( 30007881 )
2018
8
Alpha 2-Macroglobulin as Dual Regulator for Both Anabolism and Catabolism in the Cartilaginous Endplate of Intervertebral Disc. ( 30138255 )
2018
9
Exploring the interaction of anti-androgen drug-bicalutamide with human alpha-2-macroglobulin: A biophysical investigation. ( 30149080 )
2018
10
α-2-Macroglobulin induces the shedding of microvesicles from cutaneous wound myofibroblasts. ( 30479021 )
2018
11
Substrain-specific differences in bone parameters, alpha-2-macroglobulin circulating levels, and osteonecrosis incidence in a rat model. ( 26895739 )
2017
12
Alpha-2-macroglobulin and hyaluronic acid as fibromarkers in patients with chronic hepatitis C. ( 29216721 )
2017
13
Alpha-2-macroglobulin is a modulator of prophenoloxidase system in pacific white shrimp Litopenaeus vannamai. ( 28027986 )
2017
14
Alpha-2 macroglobulin as a region-specific secretory protein in male reproductive tract, and its dynamics during sperm transit toward the female spermatheca in the blue crab. ( 28418219 )
2017
15
Conformational behavior of alpha-2-macroglobulin: Aggregation and inhibition induced by TFE. ( 28600207 )
2017
16
Targeted designed variants of alpha-2-macroglobulin (A2M) attenuate cartilage degeneration in a rat model of osteoarthritis induced by anterior cruciate ligament transection. ( 28743292 )
2017
17
Fast form alpha-2-macroglobulin - A marker for protease activation in plasma exposed to artificial surfaces. ( 28888879 )
2017
18
Lectin-based protein microarray analysis of differences in serum alpha-2-macroglobulin glycosylation between patients with colorectal cancer and persons without cancer. ( 26075587 )
2016
19
Identification of a new alpha-2-macroglobulin: Multi-spectroscopic and isothermal titration calorimetry study. ( 26608004 )
2016
20
Alpha 2 macroglobulin is a maternally-derived immune factor in amphioxus embryos: New evidence for defense roles of maternal immune components in invertebrate chordate. ( 26796816 )
2016
21
Pharmacokinetic and Pharmacodynamic Investigations of ION-353382, a Model Antisense Oligonucleotide: Using Alpha-2-Macroglobulin and Murinoglobulin Double-Knockout Mice. ( 27031383 )
2016
22
Discovery, structural characterization and functional analysis of alpha-2-macroglobulin, a novel immune-related molecule from Holothuria atra. ( 27033585 )
2016
23
Association of salivary alpha 2-macroglobulin levels and clinical characteristics in type 2 diabetes. ( 27042270 )
2016
24
An alpha-2 macroglobulin in the pearl oyster Pinctada fucata: Characterization and function in hemocyte phagocytosis of Vibrio alginolyticus. ( 27346151 )
2016
25
Alpha-2-Macroglobulin Levels in Gingival Crevicular Fluid Pre- and Post-scaling and Root Planing with Adjunctive Tetracycline Fibers in Chronic Periodontitis: A Randomized Controlled Trial. ( 26323451 )
2015
26
Experimental infection of brown-marbled grouper, Epinephelus fuscoguttatus (Forskal), with Vibrio parahaemolyticus identifies parvalbumin beta-2 subunit I, alpha-2-macroglobulin, nattectin and immunoglobulin light chain, differentially expressed in resistant grouper. ( 24397626 )
2015
27
α-2-macroglobulin in saliva is associated with glycemic control in patients with type 2 diabetes mellitus. ( 25821337 )
2015
28
The interleukin 1 alpha, interleukin 1 beta, interleukin 6 and alpha-2-macroglobulin serum levels in patients with early or late onset Alzheimer's disease, mild cognitive impairment or Parkinson's disease. ( 26004156 )
2015
29
Alpha-2-Macroglobulin Is Acutely Sensitive to Freezing and Lyophilization: Implications for Structural and Functional Studies. ( 26103636 )
2015
30
Structure of protease-cleaved Escherichia coli α-2-macroglobulin reveals a putative mechanism of conformational activation for protease entrapment. ( 26143919 )
2015
31
Differential Levels of Alpha-2-Macroglobulin, Haptoglobin and Sero-Transferrin as Adjunct Markers for TB Diagnosis and Disease Progression in the Malnourished Tribal Population of Melghat, India. ( 26241963 )
2015
32
Exploration of protein-protein interaction effects on α-2-macroglobulin in an inhibition of serine protease through gene expression and molecular simulations studies. ( 24124927 )
2014
33
Effects of sFlt-1 and alpha 2-macroglobulin on vascular endothelial growth factor-induced endothelin-1 upregulation in human microvascular endothelial cells. ( 24231447 )
2014
34
Microparticle alpha-2-macroglobulin enhances pro-resolving responses and promotes survival in sepsis. ( 24357647 )
2014
35
Molecular cloning of α-2-macroglobulin from hemocytes of common periwinkle Littorina littorea. ( 24830774 )
2014
36
Anti-lymphoproliferative activity of alpha-2-macroglobulin in the plasma of hibernating 13-lined ground squirrels and woodchucks. ( 25113962 )
2014
37
Purification, characterization and molecular cloning of alpha-2-macroglobulin in cobia, Rachycentron canadum. ( 25245622 )
2014
38
Alpha-2-macroglobulin as a radioprotective agent: a review. ( 25400428 )
2014
39
On the lack of a clear-cut association between alpha-2-macroglobulin deletion and the risk of Alzheimer disease in Poland. ( 25574746 )
2014
40
Characterization of alpha-2-macroglobulin from groupers. ( 23711467 )
2013
41
Evaluation of beta-2 microglobulin and alpha-2 macroglobulin levels in patients with different periodontal diseases. ( 23713636 )
2013
42
Determination of alpha-2-macroglobulin complexes by a new immuno-activity assay. ( 21849207 )
2012
43
Impairment of α(2)-macroglobulin synthesis in experimental hepatopathic rats treated with turpentine oil. ( 22531727 )
2012
44
An N-glycosylation Analysis of Human Alpha-2-Macroglobulin Using an Integrated Approach. ( 23028207 )
2012
45
Shrimp alpha-2-macroglobulin prevents the bacterial escape by inhibiting fibrinolysis of blood clots. ( 23082160 )
2012
46
Administration of rat acute-phase protein α(2)-macroglobulin before total-body irradiation initiates cytoprotective mechanisms in the liver. ( 20848291 )
2011
47
Role of cardiac isoform of alpha-2 macroglobulin in diabetic myocardium. ( 21188621 )
2011
48
Cloning, distribution and primary immune characteristics of amphioxus alpha-2 macroglobulin. ( 21903171 )
2011
49
Differential expression of alpha 2 macroglobulin in response to dietylstilbestrol and in ovarian carcinomas in chickens. ( 21978460 )
2011
50
Kinetics of {alpha}2-macroglobulin and {alpha}1-acid glycoprotein in rats subjected to repeated acute inflammatory stimulation. ( 19858170 )
2010

Variations for Alpha-2-Macroglobulin Deficiency

Expression for Alpha-2-Macroglobulin Deficiency

Search GEO for disease gene expression data for Alpha-2-Macroglobulin Deficiency.

Pathways for Alpha-2-Macroglobulin Deficiency

GO Terms for Alpha-2-Macroglobulin Deficiency

Cellular components related to Alpha-2-Macroglobulin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 A2M KLK3 PROS1
2 extracellular exosome GO:0070062 9.43 A2M KLK3 PROS1
3 extracellular space GO:0005615 9.33 A2M KLK3 PROS1
4 blood microparticle GO:0072562 8.96 A2M PROS1
5 platelet alpha granule lumen GO:0031093 8.62 A2M PROS1

Biological processes related to Alpha-2-Macroglobulin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 8.96 A2M PROS1
2 platelet degranulation GO:0002576 8.62 A2M PROS1

Molecular functions related to Alpha-2-Macroglobulin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.62 A2M PROS1

Sources for Alpha-2-Macroglobulin 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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