MCID: PLS010
MIFTS: 28

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
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 acinar cell cystadenocarcinoma. An important gene associated with Plasma Protein Metabolism Disease is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. Affiliated tissues include lung, bone and colon, 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 69)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 31.8 ELANE SERPINA1 SERPINA3
2 acinar cell cystadenocarcinoma 10.2 SERPINA1 SERPINA3
3 impetigo 10.2 ELANE MYOM2
4 inflammatory mfh 10.2 SERPINA1 SERPINA3
5 cutaneous solitary mastocytoma 10.2 SERPINA1 SERPINA3
6 rhinoscleroma 10.2 CD19 SERPINA1
7 congenital hypogammaglobulinemia 10.2 BTK CD19
8 reticulohistiocytic granuloma 10.2 SERPINA1 SERPINA3
9 pleuropneumonia 10.2 CD19 MYD88
10 irak4 deficiency 10.1 BTK MYD88
11 panniculitis 10.1 BTK SERPINA1
12 myd88 deficiency 10.1 BTK MYD88
13 mononeuritis multiplex 10.1 MAG MYOM2
14 mononeuritis of upper limb and mononeuritis multiplex 10.1 MAG MYOM2
15 chronic polyneuropathy 10.1 MAG MYOM2
16 bronchiectasis 10.1 ELANE SERPINA1 SERPINA3
17 agammaglobulinemia, non-bruton type 10.1 BTK CD79B
18 colon lymphoma 10.1 CD19 CD5
19 osteosclerotic myeloma 10.1 MAG MYOM2
20 malignant fibroxanthoma 10.1 SERPINA1 SERPINA3
21 pulmonary disease, chronic obstructive 10.1 ELANE SERPINA1 SERPINA3
22 retinal hemangioblastoma 10.1 CXCR4 SERPINA3
23 testicular lymphoma 10.1 MME MYD88
24 macroglobulinemia 10.1 BTK CXCR4 MYD88
25 fibrosarcoma of bone 10.1 SERPINA1 SERPINA3
26 anterior scleritis 10.1 CD19 CD5
27 cystadenofibroma 10.1 MME SERPINA1
28 central nervous system leukemia 10.1 CD19 MME
29 lung lymphoma 10.1 CD19 CD5
30 nodular nonsuppurative panniculitis 10.1 ELANE SERPINA1
31 tracheal lymphoma 10.1 CD5 MME
32 intravascular large b-cell lymphoma 10.0 CD5 MME
33 ecthyma 10.0 BTK CD79B MYOM2
34 agammaglobulinemia 10.0 BTK CD19 CD79B
35 diffuse infiltrative lymphocytosis syndrome 10.0 CD19 CD38
36 marginal zone b-cell lymphoma 9.9 CD5 MME MYD88
37 polyradiculoneuropathy 9.9 CXCR4 MAG
38 ileum cancer 9.9 CD5 MME
39 central nervous system hematologic cancer 9.9 CD79B MME MYD88
40 bladder lymphoma 9.9 CD19 CD5 MME
41 richter's syndrome 9.9 CD38 CD5
42 transient hypogammaglobulinemia of infancy 9.9 BTK CD19
43 lymphatic system cancer 9.9 CD19 CD5 MME
44 lymphoma, hodgkin, classic 9.9 CD19 CD5 MME
45 gamma heavy chain disease 9.9 CD19 CD38 MYD88
46 encapsulated thymoma 9.9 CD38 MME
47 lymphoma, mucosa-associated lymphoid type 9.9 CD19 CD5 MME
48 non-secretory myeloma 9.9 CD19 CD38 MYOM2
49 solitary osseous plasmacytoma 9.9 CD19 CD38 MYOM2
50 waldenstrom macroglobulinemia 9.9 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:

46
# 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

MalaCards organs/tissues related to Plasma Protein Metabolism Disease:

41
Lung, Bone, Colon, T Cells, B Cells, Myeloid

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 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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