MCID: FCT011
MIFTS: 23

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 49 11
Factor Xiii Subunit a Deficiency 22 24 67
Type Ii F13 Deficiency 67
 
F13 Deficiency Type 2 67
Fa13ad 67


Classifications:



External Ids:

OMIM49 613225
MedGen34 C2750514
MeSH36 D005177

Summaries for Factor Xiiia Deficiency

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OMIM:49 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 autosomal recessive inheritance, epistaxis and bruising susceptibility. An important gene associated with Factor Xiiia Deficiency is F13A1 (Coagulation Factor XIII, A1 Polypeptide).

UniProtKB/Swiss-Prot:67 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 deficiency10.4

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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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 Subunit a Deficiency22 F13A1
2 Factor Xiii, a Subunit, Deficiency of24

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:

67
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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GO Terms for genes affiliated with Factor Xiiia Deficiency

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Sources for Factor Xiiia Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet