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 36 273.8
ICD10 34 E88.0
UMLS 74 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 acinar cell cystadenocarcinoma. 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 67)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 32.0 ELANE SERPINA1 SERPINA3
2 acinar cell cystadenocarcinoma 10.4 SERPINA1 SERPINA3
3 inflammatory mfh 10.4 SERPINA1 SERPINA3
4 cutaneous solitary mastocytoma 10.3 SERPINA1 SERPINA3
5 impetigo 10.3 ELANE MYOM2
6 reticulohistiocytic granuloma 10.3 SERPINA1 SERPINA3
7 rhinoscleroma 10.3 CD19 SERPINA1
8 congenital hypogammaglobulinemia 10.3 BTK CD19
9 bronchiectasis 10.2 ELANE SERPINA1 SERPINA3
10 pleuropneumonia 10.2 CD19 MYD88
11 retinal hemangioblastoma 10.2 CXCR4 SERPINA3
12 mononeuritis multiplex 10.2 MAG MYOM2
13 pulmonary disease, chronic obstructive 10.2 ELANE SERPINA1 SERPINA3
14 irak4 deficiency 10.2 BTK MYD88
15 mononeuritis of upper limb and mononeuritis multiplex 10.2 MAG MYOM2
16 malignant fibroxanthoma 10.2 SERPINA1 SERPINA3
17 panniculitis 10.2 BTK SERPINA1
18 chronic polyneuropathy 10.2 MAG MYOM2
19 myd88 deficiency 10.2 BTK MYD88
20 colon lymphoma 10.2 CD19 CD5
21 agammaglobulinemia, non-bruton type 10.2 BTK CD79B
22 osteosclerotic myeloma 10.2 MAG MYOM2
23 fibrosarcoma of bone 10.1 SERPINA1 SERPINA3
24 testicular lymphoma 10.1 MME MYD88
25 macroglobulinemia 10.1 BTK CXCR4 MYD88
26 anterior scleritis 10.1 CD19 CD5
27 central nervous system leukemia 10.1 CD19 MME
28 cystadenofibroma 10.1 MME SERPINA1
29 lung lymphoma 10.1 CD19 CD5
30 tracheal lymphoma 10.1 CD5 MME
31 nodular nonsuppurative panniculitis 10.1 ELANE SERPINA1
32 intravascular large b-cell lymphoma 10.1 CD5 MME
33 ecthyma 10.0 BTK CD79B MYOM2
34 agammaglobulinemia 10.0 BTK CD19 CD79B
35 diffuse infiltrative lymphocytosis syndrome 9.9 CD19 CD38
36 marginal zone b-cell lymphoma 9.9 CD5 MME MYD88
37 ileum cancer 9.9 CD5 MME
38 bladder lymphoma 9.9 CD19 CD5 MME
39 richter's syndrome 9.9 CD38 CD5
40 central nervous system hematologic cancer 9.9 CD79B MME MYD88
41 lymphatic system cancer 9.9 CD19 CD5 MME
42 transient hypogammaglobulinemia of infancy 9.9 BTK CD19
43 lymphoma, hodgkin, classic 9.9 CD19 CD5 MME
44 encapsulated thymoma 9.9 CD38 MME
45 lymphoma, mucosa-associated lymphoid type 9.9 CD19 CD5 MME
46 gamma heavy chain disease 9.8 CD19 CD38 MYD88
47 non-secretory myeloma 9.8 CD19 CD38 MYOM2
48 solitary osseous plasmacytoma 9.8 CD19 CD38 MYOM2
49 b-cell lymphomas 9.8 BTK CD5 MME
50 waldenstrom macroglobulinemia 9.8 BTK CXCR4 MAG MYD88

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 BTK CD19 CD38 CD5 CD79B CXCR4
2 immune system MP:0005387 9.65 BTK CD19 CD38 CD5 CD79B CXCR4
3 neoplasm MP:0002006 9.02 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

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 plasma membrane GO:0005886 9.81 BTK CD19 CD38 CD5 CD79B CXCR4
2 external side of plasma membrane GO:0009897 9.26 CD19 CD5 CD79B CXCR4
3 extracellular exosome GO:0070062 9.23 CD19 CD38 CD79B CXCR4 ELANE MME

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 9.56 ELANE MME SERPINA1 SERPINA3
2 acute-phase response GO:0006953 9.4 SERPINA1 SERPINA3
3 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.37 BTK MYD88
4 response to interleukin-1 GO:0070555 9.32 CD38 MYD88
5 negative regulation of growth of symbiont in host GO:0044130 9.16 ELANE MYD88
6 apoptotic signaling pathway GO:0097190 9.13 BTK CD38 CD5
7 B cell receptor signaling pathway GO:0050853 8.92 BTK CD19 CD38 CD79B

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 BTK CD38 CD79B MYD88 SERPINA1

Sources for Plasma Protein Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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