MCID: FCT011
MIFTS: 19

Factor Xiiia Deficiency malady

Blood category

Summaries for Factor Xiiia Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 xii deficiency and factor xi deficiency. 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:47 613225,613235

Aliases & Classifications for Factor Xiiia Deficiency

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
fibrin-stabilizing factor deficiency:
Inheritance: Autosomal recessive,Sporadic; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

factor xiiia deficiency 47
fibrin-stabilizing factor deficiency 49
congenital factor xiii deficiency 49


External Ids:

ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xiiia Deficiency

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1factor xii deficiency30.4F13A1, F13B
2factor xi deficiency10.3
3factor x deficiency10.3
4factor xiii deficiency10.3
5factor v deficiency10.2
6b cell deficiency10.2
7factor 2 deficiency10.2
8factor xiii subunit a deficiency10.2
9factor xiii subunit b deficiency10.2
10factor xiiib deficiency10.2
11atherosclerosis10.0F13A1
12myocardial infarction10.0F13A1

Graphical network of diseases related to Factor Xiiia Deficiency:



Diseases related to factor xiiia deficiency

Clinical Features for Factor Xiiia Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

613225,613235

Clinical synopsis from OMIM:

613225

Drugs & Therapeutics for Factor Xiiia Deficiency

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Factor Xiiia Deficiency

Animal Models for Factor Xiiia Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Factor Xiiia Deficiency

Sources:
51PubMed
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Articles related to Factor Xiiia Deficiency:

idTitleAuthorsYear
1
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (16330458)
2005
2
Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene. (11057855)
2000
3
Identification and characterization of two missense mutations causing factor XIIIA deficiency. (10027709)
1999
4
Molecular analysis in factor XIIIA deficiency. (7482425)
1995

Genetic Variations for Factor Xiiia Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Factor Xiiia Deficiency:

63
id Symbol AA change Variation SNP ID
1F13A1p.Arg682HisVAR_007474

Expression for genes affiliated with Factor Xiiia Deficiency

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

Sources:
54Reactome, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

Compounds for genes affiliated with Factor Xiiia Deficiency

GO Terms for genes affiliated with Factor Xiiia Deficiency

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xiiia 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