A2MD
MCID: ALP062
MIFTS: 28

Alpha-2-Macroglobulin Deficiency (A2MD)

Aliases & Classifications for Alpha-2-Macroglobulin Deficiency

MalaCards integrated aliases for Alpha-2-Macroglobulin Deficiency:

Name: Alpha-2-Macroglobulin Deficiency 58 30 13 41 74
Alpha-2-Macroglobulin 13
A2md 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
alpha-2-macroglobulin deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 614036
MedGen 43 C3279661
SNOMED-CT via HPO 70 263681008
UMLS 74 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 rheumatoid arthritis. 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 : 77 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 40)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 10.4
2 rheumatoid arthritis 10.2
3 arthritis 10.2
4 periodontitis 10.2
5 cystic fibrosis 10.0
6 aging 10.0
7 osteoarthritis 10.0
8 osteonecrosis 10.0
9 prostate cancer 9.9
10 prostate cancer, hereditary, 8 9.9
11 prostate cancer, hereditary, 6 9.9
12 lung disease 9.9
13 breast cancer 9.9
14 colorectal cancer 9.9
15 multiple sclerosis 9.9
16 papillomatosis, confluent and reticulated 9.9
17 pancreatic cancer 9.9
18 periodontitis, chronic 9.9
19 insulin-like growth factor i 9.9
20 asthma 9.9
21 adult respiratory distress syndrome 9.9
22 diabetes mellitus 9.9
23 hepatitis 9.9
24 renal fibrosis 9.9
25 mastitis 9.9
26 chagas disease 9.9
27 hepatitis c 9.9
28 acromegaly 9.9
29 acute pancreatitis 9.9
30 hyperglycemia 9.9
31 pancreatitis 9.9
32 peritonitis 9.9
33 influenza 9.9
34 pemphigus 9.9
35 sickle cell disease 9.9
36 bowenoid papulosis 9.9
37 depression 9.9
38 opioid addiction 9.9
39 paraneoplastic pemphigus 9.9
40 prostatitis 9.5 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:

58
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:

27
# 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 30 A2M

Anatomical Context for Alpha-2-Macroglobulin Deficiency

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

42
Liver, Prostate, Lung, Breast

Publications for Alpha-2-Macroglobulin Deficiency

Articles related to Alpha-2-Macroglobulin Deficiency:

# Title Authors Year
1
[Studies on alpha 2 macroglobulin deficiency in association with cancer metastasis]. ( 9105163 )
1997
2
[Chronic obstructive lung disease and alpha-2-macroglobulin deficiency in serum--case report]. ( 7694273 )
1993
3
Detection of an alteration of the alpha 2-macroglobulin gene in a patient with chronic lung disease and serum alpha 2-macroglobulin deficiency. ( 2475424 )
1989
4
Alpha-2-macroglobulin deficiency in patients with advanced prostate cancer. ( 2415892 )
1985
5
Heritable alpha 2-macroglobulin deficiency in a patient with arterial thrombosis: alpha 2-macroglobulin deficiency Irvine. ( 6209408 )
1984
6
Inherited alpha 2 macroglobulin deficiency. ( 6170131 )
1981
7
Combined alpha 1-antitrypsin and alpha 2-macroglobulin deficiency syndrome: lightmicroscopic evidence of collagenolytic, elastolytic and myolytic tissue lesions. ( 6159613 )
1980
8
Hereditary alpha 2-macroglobulin deficiency. ( 94459 )
1979

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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