MCID: FCT011
MIFTS: 21

Factor Xiiia Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Factor Xiiia Deficiency

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Aliases & Descriptions for Factor Xiiia Deficiency:

Name: Factor Xiiia Deficiency 50 12
Factor Xiii Subunit a Deficiency 23 68 25
Type Ii F13 Deficiency 68
 
F13 Deficiency Type 2 68
Fa13ad 68

Characteristics:

HPO:

62
factor xiiia deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 613225
MedGen35 C2750514
MeSH37 D005177

Summaries for Factor Xiiia Deficiency

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OMIM:50 Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor... (613225) more...

MalaCards based summary: Factor Xiiia Deficiency, also known as factor xiii subunit a deficiency, is related to factor xiiib deficiency, and has symptoms including epistaxis, bruising susceptibility and intracranial hemorrhage. An important gene associated with Factor Xiiia Deficiency is F13A1 (Coagulation Factor XIII A Chain).

UniProtKB/Swiss-Prot:68 Factor XIII subunit A deficiency: An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women.

Related Diseases for Factor Xiiia Deficiency

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Diseases related to Factor Xiiia Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1factor xiiib deficiency10.2

Symptoms for Factor Xiiia Deficiency

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Symptoms by clinical synopsis from OMIM:

613225

Clinical features from OMIM:

613225

HPO human phenotypes related to Factor Xiiia Deficiency:

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

Drugs & Therapeutics for Factor Xiiia Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Factor Xiiia Deficiency

Genetic Tests for Factor Xiiia Deficiency

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Genetic tests related to Factor Xiiia Deficiency:

id Genetic test Affiliating Genes
1 Factor Xiii, a Subunit, Deficiency of25
2 Factor Xiii Subunit a Deficiency23 F13A1

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:

68
id Symbol AA change Variation ID SNP ID
1F13A1p.Arg682HisVAR_007474
2F13A1p.Gly274ValVAR_074282

Clinvar genetic disease variations for Factor Xiiia Deficiency:

5 (show all 19)
id Gene Variation 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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Search GEO for disease gene expression data for Factor Xiiia Deficiency.

Pathways 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 for Factor Xiiia Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet