MCID: SRP007
MIFTS: 11

Serpinopathy

Categories: Rare diseases

Aliases & Classifications for Serpinopathy

MalaCards integrated aliases for Serpinopathy:

Name: Serpinopathy 58

Classifications:



External Ids:

Orphanet 58 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 kidney, pancreas and liver.

Wikipedia : 74 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 11.7
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:

40
Kidney, Pancreas, Liver

Publications for Serpinopathy

Articles related to Serpinopathy:

(show all 11)
# Title Authors PMID Year
1
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes. 61
31517426 2020
2
Calcium signalling in mammalian cell lines expressing wild type and mutant human α1-Antitrypsin. 61
31754242 2019
3
Mutation in a highly conserved glycine residue in strand 5B of plasminogen activator inhibitor 1 causes polymerisation. 61
28229167 2017
4
An RNA Aptamer Inhibits a Mutation-Induced Inactivating Misfolding of a Serpin. 61
27265748 2016
5
AFM Imaging Reveals Topographic Diversity of Wild Type and Z Variant Polymers of Human α1-Proteinase Inhibitor. 61
27008547 2016
6
The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans. 61
25786854 2015
7
The Z mutation alters the global structural dynamics of α1-antitrypsin. 61
25181470 2014
8
Kinetic instability of the serpin Z alpha1-antitrypsin promotes aggregation. 61
19944704 2010
9
Megsin gene: its genomic analysis, pathobiological functions, and therapeutic perspectives. 61
18645605 2007
10
Serpinopathy and endoplasmic reticulum stress. 61
15944813 2005
11
Novel serpinopathy in rat kidney and pancreas induced by overexpression of megsin. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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