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 prostatitis and alzheimer 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, 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:

# Related Disease Score Top Affiliating Genes
1 prostatitis 28.2 KLK3 PROS1
2 alzheimer disease 10.2
3 prostate cancer 9.8
4 lung disease 9.8
5 pancreatic cancer 9.8

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

Publications for Alpha-2-Macroglobulin Deficiency

Articles related to Alpha-2-Macroglobulin Deficiency:

# Title Authors Year
1
[Chronic obstructive lung disease and alpha-2-macroglobulin deficiency in serum--case report]. ( 7694273 )
1993
2
Alpha-2-macroglobulin deficiency in patients with advanced prostate cancer. ( 2415892 )
1985

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 exosome GO:0070062 9.5 A2M KLK3 PROS1
2 extracellular region GO:0005576 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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