MCID: PLS010
MIFTS: 23

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 35 273.8
ICD10 33 E88.0
UMLS 72 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 68)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 32.4 SERPINA3 SERPINA1 ELANE
2 acinar cell cystadenocarcinoma 10.7 SERPINA3 SERPINA1
3 inflammatory mfh 10.6 SERPINA3 SERPINA1
4 cutaneous solitary mastocytoma 10.6 SERPINA3 SERPINA1
5 reticulohistiocytic granuloma 10.5 SERPINA3 SERPINA1
6 impetigo 10.5 MYOM2 ELANE
7 immunoglobulin a deficiency 1 10.5 CD40LG BTK
8 pustulosis palmaris et plantaris 10.4 ELANE CD40LG
9 immunodeficiency with hyper-igm, type 1 10.4 CD40LG BTK
10 bronchiectasis 10.4 SERPINA3 SERPINA1 ELANE
11 rhinoscleroma 10.4 SERPINA1 CD19
12 vasculitis 10.3 SERPINA1 ELANE CD40LG
13 testicular lymphoma 10.3 MYD88 MME
14 pulmonary disease, chronic obstructive 10.3 SERPINA3 SERPINA1 ELANE
15 fibrosarcoma of bone 10.3 SERPINA3 SERPINA1
16 cystadenofibroma 10.3 SERPINA1 MME
17 panniculitis 10.3 SERPINA1 BTK
18 non-secretory myeloma 10.3 MYOM2 CD19
19 retinal hemangioblastoma 10.3 SERPINA3 CXCR4
20 gamma heavy chain disease 10.3 MYD88 CD19
21 cryoglobulinemia, familial mixed 10.3 CD5 CD40LG
22 meningeal melanocytoma 10.3 MME CD40LG
23 solitary osseous plasmacytoma 10.3 MYOM2 CD19
24 central nervous system hematologic cancer 10.3 MYD88 MME
25 malignant fibroxanthoma 10.2 SERPINA3 SERPINA1
26 congenital hypogammaglobulinemia 10.2 CD19 BTK
27 pleuropneumonia 10.2 MYD88 CD19
28 ecthyma 10.2 MYOM2 BTK
29 myd88 deficiency 10.2 MYD88 BTK
30 central nervous system leukemia 10.2 MME CD19
31 invasive malignant thymoma 10.2 MME CD19
32 irak4 deficiency 10.2 MYD88 BTK
33 anemia, autoimmune hemolytic 10.1 CD5 CD40LG
34 tracheal lymphoma 10.1 MME CD5
35 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.1 CXCR4 CD40LG BTK
36 intravascular large b-cell lymphoma 10.1 MME CD5
37 mononeuritis of upper limb and mononeuritis multiplex 10.0 MYOM2 MAG
38 mononeuritis multiplex 10.0 MYOM2 MAG
39 transient hypogammaglobulinemia of infancy 10.0 CD40LG CD19 BTK
40 b cell deficiency 10.0 CD40LG CD19 BTK
41 b cell prolymphocytic leukemia 10.0 CD5 CD19
42 immune deficiency disease 10.0 CD40LG CD19 BTK
43 chronic polyneuropathy 10.0 MYOM2 MAG
44 colon lymphoma 10.0 CD5 CD19
45 cll/sll 10.0 MME CD5
46 osteosclerotic myeloma 10.0 MYOM2 MAG
47 nodular nonsuppurative panniculitis 9.9 SERPINA1 ELANE
48 anterior scleritis 9.9 CD5 CD19
49 common variable immunodeficiency 9.9 CD40LG CD19 BTK
50 lung lymphoma 9.9 CD5 CD19

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 9.86 BTK CD19 CD40LG CD5 CXCR4 ELANE
2 immune system MP:0005387 9.81 BTK CD19 CD40LG CD5 CXCR4 ELANE
3 integument MP:0010771 9.43 BTK CD19 CD40LG CD5 CXCR4 MME
4 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 MYD88 MME MAG CXCR4 CD5 CD40LG
2 integral component of plasma membrane GO:0005887 9.43 MME MAG CD5 CD40LG CD19 ADRA1D
3 external side of plasma membrane GO:0009897 8.92 CXCR4 CD5 CD40LG CD19

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 SERPINA3 SERPINA1 MME ELANE
2 acute-phase response GO:0006953 9.37 SERPINA3 SERPINA1
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.33 MYD88 CD40LG BTK
4 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.32 MYD88 BTK
5 inflammatory response GO:0006954 9.26 SERPINA3 MYD88 CXCR4 CD40LG
6 negative regulation of growth of symbiont in host GO:0044130 8.62 MYD88 ELANE

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 9.4 SERPINA3 SERPINA1 MYOM2 MYD88 MME ELANE

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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