MCID: FCT011
MIFTS: 18

Factor Xiiia Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Factor Xiiia Deficiency

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Aliases & Descriptions for Factor Xiiia Deficiency:

Name: Factor Xiiia Deficiency 46 9
 
Factor Xiii, a Subunit, Deficiency of 46 20 22


Classifications:



External Ids:

OMIM46 613225

Summaries for Factor Xiiia Deficiency

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OMIM:46 Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor... (613225) more...

MalaCards based summary: Factor Xiiia Deficiency, is also known as factor xiii, a subunit, deficiency of, and has symptoms including autosomal recessive inheritance, epistaxis and bruising susceptibility. An important gene associated with Factor Xiiia Deficiency is F13A1 (coagulation factor XIII, A1 polypeptide).

Related Diseases for Factor Xiiia Deficiency

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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 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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Genetic tests related to Factor Xiiia Deficiency:

id Genetic test Affiliating Genes
1 Factor Xiii Subunit a Deficiency20 F13A1
2 Factor Xiii, a Subunit, Deficiency of22

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:

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

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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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 for Factor Xiiia Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet