A2MD
MCID: ALP062
MIFTS: 23

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 57 29 13 40 72
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
UMLS 72 C3279661

Summaries for Alpha-2-Macroglobulin Deficiency

MalaCards based summary : Alpha-2-Macroglobulin Deficiency, also known as a2md, is related to prostate cancer and lung disease. 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, lung and prostate, and related phenotype is Decreased viability in esophageal squamous lineage.

Wikipedia : 75 alpha-2-Macroglobulin (?2M) is a large (720 KDa) plasma protein found in the blood. It is mainly... more...

More information 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:

# Related Disease Score Top Affiliating Genes
1 prostate cancer 10.0
2 lung disease 10.0
3 pulmonary emphysema 10.0
4 prostatitis 9.2 PROS1 KLK3

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, Lung, Prostate

Publications for Alpha-2-Macroglobulin Deficiency

Articles related to Alpha-2-Macroglobulin Deficiency:

# Title Authors PMID Year
1
Detection of an alteration of the alpha 2-macroglobulin gene in a patient with chronic lung disease and serum alpha 2-macroglobulin deficiency. 38 8
2475424 1989
2
Hereditary alpha 2-macroglobulin deficiency. 38 8
94459 1979
3
[Studies on alpha 2 macroglobulin deficiency in association with cancer metastasis]. 38
9105163 1997
4
[Chronic obstructive lung disease and alpha-2-macroglobulin deficiency in serum--case report]. 38
7694273 1993
5
[DNA polymorphism of the alpha 2-macroglobulin gene in patients with chronic obstructive lung disease and serum alpha 2-macroglobulin deficiency]. 38
2481372 1989
6
Alpha-2-macroglobulin deficiency in patients with advanced prostate cancer. 38
2415892 1985
7
Heritable alpha 2-macroglobulin deficiency in a patient with arterial thrombosis: alpha 2-macroglobulin deficiency Irvine. 38
6209408 1984
8
Inherited alpha 2 macroglobulin deficiency. 38
6170131 1981
9
Combined alpha 1-antitrypsin and alpha 2-macroglobulin deficiency syndrome: lightmicroscopic evidence of collagenolytic, elastolytic and myolytic tissue lesions. 38
6159613 1980
10
[Role of alpha 1-antitrypsin and alpha-2 macroglobulin in hepatopathies]. 38
86175 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 PROS1 KLK3 A2M
2 extracellular exosome GO:0070062 9.43 PROS1 KLK3 A2M
3 extracellular space GO:0005615 9.33 PROS1 KLK3 A2M
4 blood microparticle GO:0072562 8.96 PROS1 A2M
5 platelet alpha granule lumen GO:0031093 8.62 PROS1 A2M

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 PROS1 A2M
2 platelet degranulation GO:0002576 8.62 PROS1 A2M

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 PROS1 A2M

Sources for Alpha-2-Macroglobulin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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