MCID: PLS010
MIFTS: 25

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
SNOMED-CT 67 190822009
ICD10 32 E88.0
UMLS 70 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 339)
# 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 chest wall lymphoma 10.5 IGHV4-38-2 CCR6
4 congenital hypogammaglobulinemia 10.5 CD19 BTK
5 dipetalonemiasis 10.5 GPT ALB
6 pasteurellosis 10.4 SERPINA3 ELANE ALB
7 heterophyiasis 10.4 GPT ALB
8 afferent loop syndrome 10.4 GPT ALB
9 thymus sarcomatoid carcinoma 10.4 CD5 ALB
10 mid-dermal elastolysis 10.4 ELN ELANE
11 cerebral aneurysms 10.4 ELN ELANE
12 gastric squamous cell carcinoma 10.4 SERPINA3 CCR6
13 viral laryngitis 10.4 SERPINA1 GPT
14 hepatoportal sclerosis 10.4 GPT ELN
15 papilledema 10.4 SERPINA3 MYOM2 ALB
16 streptococcal toxic-shock syndrome 10.4 MYOM2 IL6
17 immunodeficiency 45 10.4 ELANE BTK
18 chronic dacryoadenitis 10.4 PRTN3 IGHV4-38-2
19 osteosclerotic myeloma 10.4 MYOM2 IL6
20 siderosis 10.4 SERPINA3 SERPINA1 GPT
21 thyrotoxic exophthalmos 10.4 IL6 CD5
22 pyoderma 10.4 MYOM2 CCR6 BTK
23 ecthyma 10.4 MYOM2 BTK
24 endocrine exophthalmos 10.4 IL6 CD5
25 polycystic kidney disease 4 10.4 ELN ALB
26 ankylosing spondylitis 1 10.4 GPT ALB
27 type c thymoma 10.4 SERPINA3 CD5
28 solitary osseous plasmacytoma 10.4 SDC1 MYOM2
29 gummatous syphilis 10.4 GPT ELN
30 bile duct cysts 10.4 SERPINA1 GPT ALB
31 immuno-osseous dysplasia 10.4 ELN ALB
32 impetigo herpetiformis 10.4 SERPINB1 PRTN3 ELANE
33 indolent plasma cell myeloma 10.4 MYOM2 IL6
34 esophageal varix 10.4 SERPINA1 GPT ALB
35 hepatic tuberculosis 10.4 SERPINA1 GPT ALB
36 panuveitis 10.4 SERPINA3 IL6 CCR6
37 yellow nail syndrome 10.4 CCR6 ALB
38 sebaceous gland disease 10.4 SERPINA3 IL6 CCR6
39 bicipital tenosynovitis 10.4 PRTN3 CD19
40 anca-associated vasculitis 10.4 SERPINA1 PRTN3
41 collagen disease 10.4 SERPINA3 ELN CCR6
42 papillon-lefevre syndrome 10.4 PRTN3 ELANE CCR6
43 alpha chain disease 10.4 MYOM2 CD5 CD19
44 colonic benign neoplasm 10.4 SERPINA3 IL6 CCR6
45 agammaglobulinemia, x-linked 10.4 CD19 CCR6 BTK
46 anti-basement membrane glomerulonephritis 10.4 PRTN3 CCR6 ALB
47 herpangina 10.4 MYD88 IL6 CCR6
48 fungal meningitis 10.4 IL6 CCR6 ALB
49 chronic ulcer of skin 10.4 IL6 ELANE ALB
50 autoimmune disease of skin and connective tissue 10.4 SERPINA3 IL6 CCR6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 BTK CCR6 CD19 CD5 CXCR4 ELANE
2 immune system MP:0005387 9.97 ALB BTK CCR6 CD19 CD5 CXCR4
3 integument MP:0010771 9.61 BTK CD19 CD5 CXCR4 ELANE IL6
4 neoplasm MP:0002006 9.23 ALB BTK CD19 CXCR4 ELANE IL6

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

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 space GO:0005615 10.01 SERPINB1 SERPINA3 SERPINA1 PRTN3 IL6 GPT
2 extracellular region GO:0005576 9.97 SERPINB1 SERPINA3 SERPINA1 SDC1 PRTN3 IL6
3 extracellular exosome GO:0070062 9.85 SERPINB1 SERPINA3 SERPINA1 SDC1 PRTN3 GPT
4 azurophil granule lumen GO:0035578 9.54 SERPINA3 PRTN3 ELANE
5 platelet alpha granule lumen GO:0031093 9.43 SERPINA3 SERPINA1 ALB
6 external side of plasma membrane GO:0009897 9.43 SDC1 IGHV4-38-2 CXCR4 CD5 CD19 CCR6
7 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 calcium-mediated signaling GO:0019722 9.65 CXCR4 CCR6 BTK
3 phagocytosis GO:0006909 9.61 PRTN3 MYD88 ELANE
4 inflammatory response GO:0006954 9.55 SERPINA3 SDC1 MYD88 IL6 CXCR4
5 positive regulation of smooth muscle cell proliferation GO:0048661 9.5 MYD88 IL6 ELANE
6 negative regulation of chemokine production GO:0032682 9.46 IL6 ELANE
7 positive regulation of interleukin-8 production GO:0032757 9.43 MYD88 IL6 ELANE
8 response to peptidoglycan GO:0032494 9.37 MYD88 IL6
9 acute-phase response GO:0006953 9.13 SERPINA3 SERPINA1 IL6
10 cytokine-mediated signaling pathway GO:0019221 9.02 SDC1 PRTN3 PIM1 MYD88 IL6

Sources for Plasma Protein Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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