MCID: C1N001
MIFTS: 25

C1 Inhibitor Deficiency malady

Summaries for C1 Inhibitor Deficiency

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Disease Ontology:8 A complement deficiency that is a functional deficiency in the complement component c1 inhibitor leading to hereditary angioedema (hae) involving swelling due to leakage of fluid from blood vessels into connective tissue.

MalaCards: C1 Inhibitor Deficiency, also known as angioedemas, hereditary, is related to angioedema and hereditary angioedema. An important gene associated with C1 Inhibitor Deficiency is SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1), and among its related pathways are Cell adhesion Plasmin signaling and Staphylococcus aureus infection. The compounds danazol and lys-[des-arg9]bradykinin have been mentioned in the context of this disorder.

Wikipedia:64 Hereditary angioedema (types I and II) (also known as \"HAE\") is a rare, autosomal dominantly inherited... more...

Aliases & Classifications for C1 Inhibitor Deficiency

Sources:
8Disease Ontology, 10DISEASES, 61UMLS
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Aliases & Descriptions:

c1 inhibitor deficiency 8 10
angioedemas, hereditary 61
quincke edema 8


External Ids:

Disease Ontology8 DOID:0060002

Related Diseases for C1 Inhibitor Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to C1 Inhibitor Deficiency:



Diseases related to c1 inhibitor deficiency

Clinical Features for C1 Inhibitor Deficiency

Drugs & Therapeutics for C1 Inhibitor Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for C1 Inhibitor Deficiency

Anatomical Context for C1 Inhibitor Deficiency

Animal Models for C1 Inhibitor Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for C1 Inhibitor Deficiency

Genetic Variations for C1 Inhibitor Deficiency

Expression for genes affiliated with C1 Inhibitor Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with C1 Inhibitor Deficiency

Search GEO for disease gene expression data for C1 Inhibitor Deficiency.

Pathways for genes affiliated with C1 Inhibitor Deficiency

Sources:
12EMD Millipore, 30KEGG, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 56SinoBiological, 54Reactome, 53R&D Systems
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Compounds for genes affiliated with C1 Inhibitor Deficiency

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
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Compounds related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1danazol45 11 2411.9SERPING1, C1S
2lys-[des-arg9]bradykinin609.8BDKRB1, KNG1
3win 64338 hydrochloride609.8BDKRB1, KNG1
4r 715609.8BDKRB1, KNG1
5hoe 140609.8BDKRB1, KNG1
6des-arg(10)-kallidin459.8BDKRB1, KNG1
7icatibant45 29 1111.8KNG1, BDKRB1
8kallidin45 2910.7KNG1, BDKRB1
9enalaprilat459.7BDKRB1, KNG1
10perindopril45 50 1111.7BDKRB1, KNG1
11captopril45 29 50 60 1113.5KNG1, BDKRB1
12bradykinin60 29 2411.5BDKRB1, KNG1, F12
13diisopropylfluorophosphate459.4KNG1, PRCP
14aspirin45 50 29 2412.4F12, KNG1, C1S
15heparin45 29 11 2412.2SERPING1, F12, KNG1, C1S
16fibrinogen459.0MASP2, F12, C1S
17kininogen458.6PRCP, F12, KNG1, BDKRB1, C1S
18serine458.0C1S, KNG1, F12, PRCP, MASP2, SERPING1

GO Terms for genes affiliated with C1 Inhibitor Deficiency

Sources:
16Gene Ontology
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Cellular components related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.8SERPING1, KNG1
2extracellular regionGO:0055768.0SPINT2, SERPING1, MASP2, F12, KNG1, C1S

Biological processes related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:0109519.8SPINT2, SERPING1
2fibrinolysisGO:0427309.8SERPING1, F12
3complement activation, classical pathwayGO:0069589.5C1S, MASP2, SERPING1
4complement activationGO:0069569.4MASP2, C1S
5blood coagulation, intrinsic pathwayGO:0075979.0SERPING1, PRCP, F12, KNG1
6blood coagulationGO:0075969.0SERPING1, PRCP, F12, KNG1
7innate immune responseGO:0450878.9C1S, F12, MASP2, SERPING1
8proteolysisGO:0065088.9C1S, F12, PRCP, MASP2

Molecular functions related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.0MASP2, F12, C1S
2protein bindingGO:0055156.7BDKRB1, KNG1, F12, PRCP, MASP2, CD93

Products for genes affiliated with C1 Inhibitor Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for C1 Inhibitor Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet