MCID: SRP007
MIFTS: 11

Serpinopathy

Categories: Rare diseases

Aliases & Classifications for Serpinopathy

MalaCards integrated aliases for Serpinopathy:

Name: Serpinopathy 59

Classifications:



External Ids:

Orphanet 59 ORPHA250805

Summaries for Serpinopathy

MalaCards based summary : Serpinopathy is related to serpinopathy with toxic serpin polymerization and serpinopathy with loss of serpin function. An important gene associated with Serpinopathy is SERPINB7 (Serpin Family B Member 7). Affiliated tissues include pancreas and kidney.

Wikipedia : 75 Serpins are a superfamily of proteins with similar structures that were first identified for their... more...

Related Diseases for Serpinopathy

Diseases related to Serpinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 serpinopathy with toxic serpin polymerization 12.2
2 serpinopathy with loss of serpin function 12.2
3 encephalopathy, familial, with neuroserpin inclusion bodies 10.6
4 dementia 10.6
5 encephalopathy 10.5
6 pulmonary disease, chronic obstructive 10.4
7 liver cirrhosis 10.4
8 alpha-1-antitrypsin deficiency 10.4
9 thrombosis 10.3
10 creutzfeldt-jakob disease 10.1
11 huntington disease 10.1
12 angioedema 10.1
13 kidney disease 10.1

Graphical network of the top 20 diseases related to Serpinopathy:



Diseases related to Serpinopathy

Symptoms & Phenotypes for Serpinopathy

Drugs & Therapeutics for Serpinopathy

Search Clinical Trials , NIH Clinical Center for Serpinopathy

Genetic Tests for Serpinopathy

Anatomical Context for Serpinopathy

MalaCards organs/tissues related to Serpinopathy:

41
Pancreas, Kidney

Publications for Serpinopathy

Articles related to Serpinopathy:

# Title Authors PMID Year
1
Mutation in a highly conserved glycine residue in strand 5B of plasminogen activator inhibitor 1 causes polymerisation. 38
28229167 2017
2
An RNA Aptamer Inhibits a Mutation-Induced Inactivating Misfolding of a Serpin. 38
27265748 2016
3
AFM Imaging Reveals Topographic Diversity of Wild Type and Z Variant Polymers of Human α1-Proteinase Inhibitor. 38
27008547 2016
4
The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans. 38
25786854 2015
5
The Z mutation alters the global structural dynamics of α1-antitrypsin. 38
25181470 2014
6
Kinetic instability of the serpin Z alpha1-antitrypsin promotes aggregation. 38
19944704 2010
7
Megsin gene: its genomic analysis, pathobiological functions, and therapeutic perspectives. 38
18645605 2007
8
Serpinopathy and endoplasmic reticulum stress. 38
15944813 2005
9
Novel serpinopathy in rat kidney and pancreas induced by overexpression of megsin. 38
15788472 2005

Variations for Serpinopathy

Expression for Serpinopathy

Search GEO for disease gene expression data for Serpinopathy.

Pathways for Serpinopathy

GO Terms for Serpinopathy

Sources for Serpinopathy

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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