MCID: FCT011
MIFTS: 23

Factor Xiiia Deficiency malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Factor Xiiia Deficiency

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 Hemostasis and Collagen biosynthesis and modifying enzymes.

Description from OMIM:47 613225,613235

Aliases & Classifications for Factor Xiiia Deficiency

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Sources:
49Orphanet, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


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:

SNOMED-CT via Orphanet59 18604004, 50189006
ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xiiia Deficiency

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Sources:
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 deficiency11.1
2vaginitis10.2
3factor xiiib deficiency10.2
4factor xii deficiency10.0F13B, F13A1

Symptoms for Factor Xiiia Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

613225

Clinical features from OMIM:

613225,613235

Drugs & Therapeutics for Factor Xiiia Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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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52PubMed
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Articles related to Factor Xiiia Deficiency:

idTitleAuthorsYear
1
Identification and characterization of two missense mutations causing factor XIIIA deficiency. (10027709)
1999
2
Molecular analysis in factor XIIIA deficiency. (7482425)
1995

Variations for Factor Xiiia Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Factor Xiiia Deficiency:

64
id Symbol AA change Variation ID SNP ID
1F13A1p.Arg682HisVAR_007474

Clinvar genetic disease variations for Factor Xiiia Deficiency:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1F13A1F13A1, 2-BP DEL, 210AGdeletionPathogenic
2F13A1NM_000129.3(F13A1): c.2045G> A (p.Arg682His)single nucleotide variantPathogenicrs121913064GRCh37Chr 6, 6152046: 6152046
3F13A1NM_000129.3(F13A1): c.514C> T (p.Arg172Ter)single nucleotide variantPathogenicrs121913065GRCh37Chr 6, 6266848: 6266848
4F13A1NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter)single nucleotide variantPathogenicrs121913066GRCh37Chr 6, 6182354: 6182354
5F13A1NM_000129.3(F13A1): c.183C> A (p.Asn61Lys)single nucleotide variantPathogenicrs121913067GRCh37Chr 6, 6305720: 6305720
6F13A1NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg)single nucleotide variantPathogenicrs121913068GRCh37Chr 6, 6175056: 6175056
7F13A1NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg)single nucleotide variantPathogenicrs121913069GRCh37Chr 6, 6174873: 6174873
8F13A1NM_000129.3(F13A1): c.1243G> T (p.Val415Phe)single nucleotide variantPathogenicrs121913070GRCh37Chr 6, 6196092: 6196092
9F13A1NM_000129.3(F13A1): c.782G> A (p.Arg261His)single nucleotide variantPathogenicrs121913071GRCh37Chr 6, 6248561: 6248561
10F13A1NM_000129.3(F13A1): c.980G> A (p.Arg327Gln)single nucleotide variantPathogenicrs121913072GRCh37Chr 6, 6222398: 6222398
11F13A1NM_000129.3(F13A1): c.949G> T (p.Val317Phe)single nucleotide variantPathogenicrs121913073GRCh37Chr 6, 6224943: 6224943
12F13A1NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs121913074GRCh37Chr 6, 6225041: 6225041
13F13A1F13A1, 1-BP INS, 1286CinsertionPathogenic
14F13A1F13A1, IVS5AS, G-A, -1single nucleotide variantPathogenic
15F13A1NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp)single nucleotide variantPathogenicrs267606787GRCh37Chr 6, 6145941: 6145941
16F13A1NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter)single nucleotide variantPathogenicrs267606789GRCh37Chr 6, 6152107: 6152107
17F13A1NM_000129.3(F13A1): c.728T> C (p.Met243Thr)single nucleotide variantPathogenicrs267606788GRCh37Chr 6, 6248615: 6248615
18F13A1F13A1, 4-BP DEL, 602AAAGdeletionPathogenic
19F13A1NM_000129.3(F13A1): c.-19+12A=single nucleotide variantPathogenicrs2815822GRCh37Chr 6, 6320808: 6320808

Expression for genes affiliated with Factor Xiiia Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor Xiiia Deficiency

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Pathways for genes affiliated with Factor Xiiia Deficiency

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Sources:
50PathCards, 55Reactome, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54R&D Systems, 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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16Gene Ontology
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Cellular components related to Factor Xiiia Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1F13B, F13A1

Biological processes related to Factor Xiiia Deficiency according to GeneCards/GeneDecks:

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

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet