MCID: PLS010
MIFTS: 24

Plasma Protein Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Plasma Protein Metabolism Disease

MalaCards integrated aliases for Plasma Protein Metabolism Disease:

Name: Plasma Protein Metabolism Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:2345
ICD9CM 34 273.8
ICD10 32 E88.0
UMLS 71 C0029594

Summaries for Plasma Protein Metabolism Disease

Disease Ontology : 12 An inherited metabolic disorder that involves plasma protein metabolism malfunction.

MalaCards based summary : Plasma Protein Metabolism Disease is related to alpha-1-antitrypsin deficiency and carboxypeptidase n deficiency. An important gene associated with Plasma Protein Metabolism Disease is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. Related phenotypes are hematopoietic system and immune system

Related Diseases for Plasma Protein Metabolism Disease

Diseases related to Plasma Protein Metabolism Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 403)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 31.6 SERPINB1 SERPINA3 SERPINA1 PRTN3 GPT ELN
2 carboxypeptidase n deficiency 11.2
3 cork-handlers' disease 10.7 CD40LG ALB
4 fournier gangrene 10.6 CD40LG ALB
5 pustulosis palmaris et plantaris 10.6 ELANE CD40LG CCR6
6 ecthyma 10.6 MYOM2 CD40LG BTK
7 papilledema 10.6 SERPINA3 MYOM2 CD40LG
8 osteosclerotic myeloma 10.6 MYOM2 CD40LG
9 tularemia 10.6 MYD88 CD40LG CCR6
10 dipetalonemiasis 10.6 GPT ALB
11 chest wall lymphoma 10.6 IGHV4-38-2 CCR6
12 pasteurellosis 10.6 SERPINA3 ELANE ALB
13 klebsiella pneumonia 10.6 CD40LG CCR6 ALB
14 gastric squamous cell carcinoma 10.6 SERPINA3 CCR6
15 bullous skin disease 10.6 SERPINA3 CD40LG CCR6
16 monoclonal paraproteinemia 10.6 IGHV4-38-2 CD40LG
17 congenital hypogammaglobulinemia 10.6 CD40LG CD19 BTK
18 gamma heavy chain disease 10.6 MYD88 IGHV4-38-2 CD40LG
19 transient hypogammaglobulinemia of infancy 10.6 CD40LG CD19 BTK
20 scarlet fever 10.6 MYOM2 CD40LG ALB
21 cryoglobulinemia, familial mixed 10.6 CD5 CD40LG
22 mid-dermal elastolysis 10.6 ELN ELANE
23 cerebral aneurysms 10.6 ELN ELANE
24 acute poststreptococcal glomerulonephritis 10.6 MYOM2 CD40LG ALB
25 allergic cutaneous vasculitis 10.6 PRTN3 CD40LG
26 viral laryngitis 10.6 SERPINA1 GPT CD40LG
27 lipoid nephrosis 10.6 SERPINA3 CD40LG ALB
28 protein-losing enteropathy 10.6 SERPINA1 CD40LG ALB
29 smoldering myeloma 10.6 MYOM2 IGHV4-38-2 CD40LG
30 hepatoportal sclerosis 10.6 GPT ELN
31 blepharochalasis 10.6 SERPINA3 ELN
32 primary thrombocytopenia 10.6 CD40LG CD19 CCR6
33 mulchandani-bhoj-conlin syndrome 10.6 CD40LG CD19 CCR6
34 thrombocytopenia due to platelet alloimmunization 10.6 CD40LG CD19 CCR6
35 streptococcal toxic-shock syndrome 10.6 MYOM2 IL6
36 polycystic kidney disease 4 10.6 ELN ALB
37 guillain-barre syndrome 10.6 CD40LG CCR6 ALB
38 t cell deficiency 10.6 CD40LG CD19 CCR6
39 thymus sarcomatoid carcinoma 10.6 CD5 ALB
40 heterophyiasis 10.6 GPT CD40LG ALB
41 mononeuritis of upper limb and mononeuritis multiplex 10.6 PRTN3 MYOM2 CD40LG
42 mononeuritis multiplex 10.6 PRTN3 MYOM2 CD40LG
43 cd40 ligand deficiency 10.6 CD40LG CD19 BTK
44 type c thymoma 10.6 SERPINA3 CD5
45 iga glomerulonephritis 10.6 CD40LG CCR6 ALB
46 siderosis 10.6 SERPINA3 SERPINA1 GPT
47 blastomycosis 10.6 IL6 CD40LG CCR6
48 autoimmune vasculitis 10.6 PRTN3 ELANE CCR6
49 splenic abscess 10.5 GPT CD40LG ALB
50 acalculous cholecystitis 10.5 GPT CD40LG ALB

Graphical network of the top 20 diseases related to Plasma Protein Metabolism Disease:



Diseases related to Plasma Protein Metabolism Disease

Symptoms & Phenotypes for Plasma Protein Metabolism Disease

MGI Mouse Phenotypes related to Plasma Protein Metabolism Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 BTK CCR6 CD19 CD40LG CD5 ELANE
2 immune system MP:0005387 9.4 ALB BTK CCR6 CD19 CD40LG CD5

Drugs & Therapeutics for Plasma Protein Metabolism Disease

Search Clinical Trials , NIH Clinical Center for Plasma Protein Metabolism Disease

Genetic Tests for Plasma Protein Metabolism Disease

Anatomical Context for Plasma Protein Metabolism Disease

Publications for Plasma Protein Metabolism Disease

Variations for Plasma Protein Metabolism Disease

Expression for Plasma Protein Metabolism Disease

Search GEO for disease gene expression data for Plasma Protein Metabolism Disease.

Pathways for Plasma Protein Metabolism Disease

Pathways related to Plasma Protein Metabolism Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 SERPINB1 SERPINA3 SERPINA1 PRTN3 PIM1 MYD88
2 11.87 PIM1 MYD88 CD40LG CD19 BTK
3 11.44 PRTN3 PIM1 ELANE
4 11.3 SERPINA1 IL6 ELN
5 11.13 MYD88 IL6 CD40LG
6 10.38 CD40LG CD19 BTK

GO Terms for Plasma Protein Metabolism Disease

Cellular components related to Plasma Protein Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 SERPINB1 SERPINA3 SERPINA1 PRTN3 IL6 ELN
2 extracellular space GO:0005615 9.61 SERPINB1 SERPINA3 SERPINA1 PRTN3 IL6 GPT
3 external side of plasma membrane GO:0009897 9.55 IGHV4-38-2 CD5 CD40LG CD19 CCR6
4 platelet alpha granule lumen GO:0031093 9.43 SERPINA3 SERPINA1 ALB
5 collagen-containing extracellular matrix GO:0062023 9.1 SERPINB1 SERPINA3 SERPINA1 PRTN3 ELN ELANE

Biological processes related to Plasma Protein Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 SERPINB1 SERPINA3 SERPINA1 PRTN3 ELANE
2 phagocytosis GO:0006909 9.54 PRTN3 MYD88 ELANE
3 positive regulation of smooth muscle cell proliferation GO:0048661 9.5 MYD88 IL6 ELANE
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.46 MYD88 IL6 CD40LG BTK
5 leukocyte migration involved in inflammatory response GO:0002523 9.43 ELANE CCR6
6 response to peptidoglycan GO:0032494 9.26 MYD88 IL6
7 acute-phase response GO:0006953 9.13 SERPINA3 SERPINA1 IL6
8 negative regulation of chemokine biosynthetic process GO:0045079 8.62 IL6 ELANE

Molecular functions related to Plasma Protein Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 SERPINB1 SERPINA3 SERPINA1 PRTN3 PIM1 MYOM2

Sources for Plasma Protein Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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