MCID: FCT011
MIFTS: 20

Factor Xiiia Deficiency malady

Blood diseases category

Summaries for Factor Xiiia Deficiency

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Factor XIII or fibrin stabilizing factor is an enzyme (EC 2.3.2.13) of the blood coagulation system that... more...

MalaCards: Factor Xiiia Deficiency, also known as fibrin-stabilizing factor deficiency, is related to factor xiii deficiency and vaginitis. An important gene associated with Factor Xiiia Deficiency is F13A1 (coagulation factor XIII, A1 polypeptide), and among its related pathways are Collagen biosynthesis and modifying enzymes and Platelet activation, signaling and aggregation.

Description from OMIM:46 613225,613235

Aliases & Classifications for Factor Xiiia Deficiency

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48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
fibrin-stabilizing factor deficiency:
Inheritance: Autosomal recessive,Sporadic; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

factor xiiia deficiency 46
fibrin-stabilizing factor deficiency 48
congenital factor xiii deficiency 48


External Ids:

SNOMED-CT via Orphanet57 18604004, 50189006
ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xiiia Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Factor Xiiia Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1factor xiii deficiency11.0
2vaginitis10.2
3factor xiiib deficiency10.2
4atherosclerosis10.0F13A1
5myocardial infarction10.0F13A1
6factor xii deficiency10.0F13A1, F13B

Graphical network of diseases related to Factor Xiiia Deficiency:



Diseases related to factor xiiia deficiency

Clinical Features for Factor Xiiia Deficiency

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46OMIM
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Clinical features from OMIM:

613225,613235

Clinical synopsis from OMIM:

613225

Drugs & Therapeutics for Factor Xiiia Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Factor Xiiia Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xiiia Deficiency

Search NIH Clinical Center for Factor Xiiia Deficiency

Search CenterWatch for Factor Xiiia Deficiency

Genetic Tests for Factor Xiiia Deficiency

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Anatomical Context for Factor Xiiia Deficiency

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Animal Models for Factor Xiiia Deficiency or affiliated genes

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Publications for Factor Xiiia Deficiency

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Genetic Variations for Factor Xiiia Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Factor Xiiia Deficiency:

62
id Symbol AA change Variation ID SNP ID
1F13A1p.Arg682HisVAR_007474

Expression for genes affiliated with Factor Xiiia Deficiency

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

Search GEO for disease gene expression data for Factor Xiiia Deficiency.

Pathways for genes affiliated with Factor Xiiia Deficiency

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Sources:
53Reactome, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Factor Xiiia Deficiency

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GO Terms for genes affiliated with Factor Xiiia Deficiency

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Sources:
16Gene Ontology
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Biological processes related to Factor Xiiia Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1F13A1, F13B

Products for genes affiliated with Factor Xiiia Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xiiia Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet