MCID: PLS010
MIFTS: 26

Plasma Protein Metabolism Disease

Categories: Genetic diseases, 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. Affiliated tissues include b cells, eye and bone, and 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 218)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 32.0 SERPINB1 SERPINA3 SERPINA1 ELANE CDIPT ALB
2 carboxypeptidase n deficiency 11.2
3 osteosclerotic myeloma 10.6 MYOM2 CD40LG
4 riedel's fibrosing thyroiditis 10.6 CD40LG ALB
5 polyclonal hypergammaglobulinemia 10.6 SERPINA3 MYOM2 CD40LG
6 cork-handlers' disease 10.6 CD40LG ALB
7 gastric squamous cell carcinoma 10.6 SERPINA3 CCR6
8 erysipelas 10.6 MYOM2 ELANE CD40LG
9 central nervous system vasculitis 10.6 SERPINA3 CD40LG CCR6
10 pustulosis palmaris et plantaris 10.5 ELANE CD40LG CCR6
11 autoimmune disease of skin and connective tissue 10.5 SERPINA3 CD40LG CCR6
12 congenital hypogammaglobulinemia 10.5 CD40LG CD19 BTK
13 solitary osseous plasmacytoma 10.5 SDC1 MYOM2
14 cryoglobulinemia, familial mixed 10.5 CD5 CD40LG
15 transient hypogammaglobulinemia of infancy 10.5 CD40LG CD19 BTK
16 fournier gangrene 10.5 CD40LG ALB
17 transient hypogammaglobulinemia 10.5 CD40LG CD19 BTK
18 chest wall lymphoma 10.5 SDC1 CCR6
19 gingival disease 10.5 SERPINA3 ELANE CCR6
20 ecthyma 10.5 MYOM2 BTK
21 type c thymoma 10.5 SERPINA3 CD5
22 splenic infarction 10.5 SERPINA3 CD5 CD40LG
23 liver sarcoma 10.5 SERPINA3 SERPINA1
24 heterophyiasis 10.5 CD40LG ALB
25 cd40 ligand deficiency 10.5 CD40LG CD19 BTK
26 salivary gland disease 10.5 SERPINA3 CD40LG CCR6
27 malignant choroid melanoma 10.5 SERPINA1 CD5
28 pasteurellosis 10.5 SERPINA3 ELANE ALB
29 thrombocytopenia due to platelet alloimmunization 10.5 CD40LG CD19 CCR6
30 schuurs-hoeijmakers syndrome 10.5 IGHV4-38-2 CD40LG CD19
31 hypersensitivity vasculitis 10.5 SERPINA3 CD40LG ALB
32 pyoderma 10.5 MYOM2 CCR6 BTK
33 monoclonal paraproteinemia 10.5 SDC1 CD40LG CD19
34 primary thrombocytopenia 10.5 CD40LG CD19 CCR6
35 hypersensitivity reaction type iii disease 10.5 SERPINA3 CD40LG ALB
36 bacterial sepsis 10.5 MYD88 ELANE CCR6
37 isolated growth hormone deficiency type iii 10.5 CD40LG BTK
38 rapidly progressive glomerulonephritis 10.5 ELANE CD40LG ALB
39 temporal arteritis 10.5 SERPINA3 CD40LG CCR6
40 lipoid nephrosis 10.5 SERPINA3 CD40LG ALB
41 scarlet fever 10.5 MYOM2 CD40LG ALB
42 heavy chain disease 10.5 SERPINA3 MYOM2 MYD88 CD40LG
43 impetigo herpetiformis 10.5 SERPINB1 ELANE
44 papilledema 10.5 MYOM2 CD40LG ALB
45 acute poststreptococcal glomerulonephritis 10.5 MYOM2 CD40LG ALB
46 collagen disease 10.5 SERPINA3 CD40LG CCR6
47 thrombocytopenic purpura, autoimmune 10.5 CD40LG CD19 CCR6
48 meningovascular neurosyphilis 10.5 CD40LG ALB
49 b cell prolymphocytic leukemia 10.5 CD5 CD19
50 combined t cell and b cell immunodeficiency 10.5 CD40LG CD19 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 BTK CCR6 CD19 CD40LG CD5 CD79B
2 immune system MP:0005387 9.77 ALB BTK CCR6 CD19 CD40LG CD5
3 neoplasm MP:0002006 9.17 ALB BTK CD19 CXCR4 ELANE MYD88

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

MalaCards organs/tissues related to Plasma Protein Metabolism Disease:

40
B Cells, Eye, Bone, Thymus, Bone Marrow, Lymph Node, Spinal Cord

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
13.7 SERPINB1 SERPINA3 SERPINA1 PIM1 MYD88 ELANE
2 11.95 PIM1 MYD88 CXCR4 CD40LG CD19 BTK
3 11.52 SDC1 CD79B CD5 CD19
4 11.2 SDC1 MYD88 CD40LG
5 11.01 CD40LG CD19 BTK
6 10.75 SDC1 CXCR4 CD5 CD40LG CD19

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 exosome GO:0070062 9.65 SERPINB1 SERPINA3 SERPINA1 SDC1 MIR9-1 ELANE
2 platelet alpha granule lumen GO:0031093 9.33 SERPINA3 SERPINA1 ALB
3 external side of plasma membrane GO:0009897 9.23 SDC1 IGHV4-38-2 CXCR4 CD79B CD5 CD40LG

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

# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.43 CXCR4 CCR6 BTK
2 inflammatory response GO:0006954 9.35 SERPINA3 SDC1 MYD88 CXCR4 CD40LG
3 leukocyte migration involved in inflammatory response GO:0002523 9.16 ELANE CCR6
4 B cell receptor signaling pathway GO:0050853 8.92 IGHV4-38-2 CD79B CD19 BTK

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 9.91 SERPINB1 SERPINA3 SERPINA1 SDC1 PIM1 MYOM2
2 serine-type endopeptidase inhibitor activity GO:0004867 9.33 SERPINB1 SERPINA3 SERPINA1
3 identical protein binding GO:0042802 9.23 SERPINA1 SDC1 MYD88 CXCR4 CD79B BTK

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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