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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Wikipedia:65 Factor XIII or fibrin stabilizing factor is an enzyme (EC 2.3.2.13) of the blood coagulation system that... more...

MalaCards based summary: Factor Xiiia Deficiency, also known as fibrin-stabilizing factor deficiency, is related to factor xiii deficiency and vaginitis, and has symptoms including 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.

Descriptions from OMIM:46 613225,613235

Aliases & Classifications for Factor Xiiia Deficiency

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Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
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Factor Xiiia Deficiency, Aliases & Descriptions:

Name: Factor Xiiia Deficiency 46
Fibrin-Stabilizing Factor Deficiency 48
Fibrin Stabilising Factor Deficiency 62
 
Factor Xiii Deficiency, Congenital 62
Congenital Factor Xiii Deficiency 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xiiia Deficiency

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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 deficiency9.9F13B, F13A1

Symptoms for Factor Xiiia Deficiency

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Symptoms by clinical synopsis from OMIM:

613225

Clinical features from OMIM:

613225,613235

HPO human phenotypes related to Factor Xiiia Deficiency:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 epistaxis HP:0000421
3 bruising susceptibility HP:0000978
4 intracranial hemorrhage HP:0002170
5 congenital onset HP:0003577
6 joint hemorrhage HP:0005261
7 spontaneous hematomas HP:0007420
8 reduced factor xiii activity HP:0008357

Drugs & Therapeutics for Factor Xiiia Deficiency

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Drug clinical trials:

Search ClinicalTrials for Factor Xiiia Deficiency

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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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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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:

6 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1F13BF13B, 1-BP DEL, IVS1AS, A, -2deletionPathogenic
2F13BNM_001994.2(F13B): c.1349G> T (p.Cys450Phe)single nucleotide variantPathogenicrs121913075GRCh37Chr 1, 197024850: 197024850
3F13BF13B, 3-BP INS, AACinsertionPathogenic
4F13BF13B, 1-BP DEL, EX9deletionPathogenic
5F13A1F13A1, 2-BP DEL, 210AGdeletionPathogenic
6F13A1NM_000129.3(F13A1): c.2045G> A (p.Arg682His)single nucleotide variantPathogenicrs121913064GRCh37Chr 6, 6152046: 6152046
7F13A1NM_000129.3(F13A1): c.514C> T (p.Arg172Ter)single nucleotide variantPathogenicrs121913065GRCh37Chr 6, 6266848: 6266848
8F13A1NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter)single nucleotide variantPathogenicrs121913066GRCh37Chr 6, 6182354: 6182354
9F13A1NM_000129.3(F13A1): c.183C> A (p.Asn61Lys)single nucleotide variantPathogenicrs121913067GRCh37Chr 6, 6305720: 6305720
10F13A1NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg)single nucleotide variantPathogenicrs121913068GRCh37Chr 6, 6175056: 6175056
11F13A1NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg)single nucleotide variantPathogenicrs121913069GRCh37Chr 6, 6174873: 6174873
12F13A1NM_000129.3(F13A1): c.1243G> T (p.Val415Phe)single nucleotide variantPathogenicrs121913070GRCh37Chr 6, 6196092: 6196092
13F13A1NM_000129.3(F13A1): c.782G> A (p.Arg261His)single nucleotide variantPathogenicrs121913071GRCh37Chr 6, 6248561: 6248561
14F13A1NM_000129.3(F13A1): c.980G> A (p.Arg327Gln)single nucleotide variantPathogenicrs121913072GRCh37Chr 6, 6222398: 6222398
15F13A1NM_000129.3(F13A1): c.949G> T (p.Val317Phe)single nucleotide variantPathogenicrs121913073GRCh37Chr 6, 6224943: 6224943
16F13A1NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs121913074GRCh37Chr 6, 6225041: 6225041
17F13A1F13A1, 1-BP INS, 1286CinsertionPathogenic
18F13A1F13A1, IVS5AS, G-A, -1single nucleotide variantPathogenic
19F13A1NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp)single nucleotide variantPathogenicrs267606787GRCh37Chr 6, 6145941: 6145941
20F13A1NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter)single nucleotide variantPathogenicrs267606789GRCh37Chr 6, 6152107: 6152107
21F13A1NM_000129.3(F13A1): c.728T> C (p.Met243Thr)single nucleotide variantPathogenicrs267606788GRCh37Chr 6, 6248615: 6248615
22F13A1F13A1, 4-BP DEL, 602AAAGdeletionPathogenic
23F13A1NM_000129.3(F13A1): c.-19+12A=single nucleotide variantPathogenicrs2815822GRCh37Chr 6, 6320808: 6320808

Expression for genes affiliated with Factor Xiiia Deficiency

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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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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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet