MCID: PLS010
MIFTS: 26

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 35 273.8
SNOMED-CT 68 190822009 190825006
ICD10 33 E88.0
UMLS 73 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 selective igg deficiency disease. An important gene associated with Plasma Protein Metabolism Disease is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are NF-kappaB Signaling and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Related phenotypes are hematopoietic system and homeostasis/metabolism

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 161)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 31.3 ELANE SERPINA1 SERPINA3
2 selective igg deficiency disease 10.8 CD40LG CD79A
3 c1q nephropathy 10.8 CD40LG CD79A
4 meningovascular neurosyphilis 10.8 CD40LG CD79A
5 alpha chain disease 10.8 CD40LG CD79A
6 brill-zinsser disease 10.8 CD40LG CD79A
7 exudative glomerulonephritis 10.8 CD40LG CD79A
8 cork-handlers' disease 10.8 CD40LG CD79A
9 salpingo-oophoritis 10.8 CD40LG CD79A
10 early yaws 10.8 CD40LG CD79A
11 ventilation pneumonitis 10.8 CD40LG CD79A
12 chronic interstitial cystitis 10.8 CD40LG CD79A
13 axillary adenitis 10.8 CD40LG CD79A
14 cryofibrinogenemia 10.8 CD40LG CD79A
15 trichostrongyloidiasis 10.8 CD40LG CD79A
16 subacute bacterial endocarditis 10.8 CD40LG CD79A
17 heterophyiasis 10.8 CD40LG CD79A
18 immunoglobulin g deficiency 10.8 CD40LG CD79A
19 orbital granuloma 10.8 CD40LG CD79A
20 hyperglobulinemic purpura 10.8 CD40LG CD79A
21 gastroduodenitis 10.8 CD40LG CD79A
22 bacterial conjunctivitis 10.8 CD40LG CD79A
23 ophthalmia neonatorum 10.8 CD40LG CD79A
24 parotid disease 10.8 CD40LG CD79A
25 cerebral arteritis 10.8 CD40LG CD79A
26 murray valley encephalitis 10.8 CD40LG MYOM2
27 selective immunoglobulin deficiency disease 10.8 CD40LG CD79A
28 erythema elevatum diutinum 10.8 CD40LG CD79A
29 sporotrichosis 10.8 CD40LG CD79A
30 fallopian tube disease 10.8 CD40LG CD79A
31 transient arthritis 10.8 CD40LG SERPINA1
32 hyperimmunoglobulin syndrome 10.8 CD40LG CD79A
33 congenital syphilis 10.8 CD40LG CD79A
34 salpingitis 10.8 CD40LG CD79A
35 ocular toxoplasmosis 10.8 CD40LG CD79A
36 dysgammaglobulinemia 10.8 CD40LG CD79A
37 acute maxillary sinusitis 10.8 CD40LG CD79A
38 ancylostomiasis 10.8 CD40LG SERPINA1
39 spinocerebellar ataxia, autosomal recessive 10 10.8 CD40LG CD79A
40 cd40 ligand deficiency 10.8 CD40LG CD79A
41 secondary syphilis 10.7 CD40LG CD79A
42 yellow nail syndrome 10.7 CD40LG CD79A
43 congenital toxoplasmosis 10.7 CD40LG CD79A
44 smoldering myeloma 10.7 CD79A MYOM2
45 chorioretinitis 10.7 CD40LG CD79A
46 asymptomatic neurosyphilis 10.7 CD40LG CD79A
47 urethritis 10.7 CD40LG CD79A
48 impetigo 10.7 ELANE MYOM2
49 diffuse glomerulonephritis 10.7 CD40LG CD79A
50 danubian endemic familial nephropathy 10.7 CD40LG CD79A

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 9.96 CD38 CD40LG CD5 CD79A CXCR4 ELANE
2 homeostasis/metabolism MP:0005376 9.81 MYD88 CD19 CD38 CD40LG CD79A CXCR4
3 immune system MP:0005387 9.65 CD19 CD38 CD40LG CD5 CD79A CXCR4
4 neoplasm MP:0002006 9.1 MYD88 CD19 CD79A CXCR4 ELANE BTK

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 external side of plasma membrane GO:0009897 8.92 CD19 CD40LG CD5 CD79A

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.56 CD40LG CXCR4 MYD88 SERPINA3
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.5 BTK CD40LG MYD88
3 B cell activation GO:0042113 9.37 BTK CD79A
4 negative regulation of growth of symbiont in host GO:0044130 9.16 ELANE MYD88
5 apoptotic signaling pathway GO:0097190 9.13 BTK CD38 CD5
6 B cell receptor signaling pathway GO:0050853 8.92 BTK CD19 CD38 CD79A

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

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 8.62 CXCR4 ELANE

Sources for Plasma Protein Metabolism Disease

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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