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 51 12
Factor Xiii Subunit a Deficiency 24 69 26
Type Ii F13 Deficiency 69
 
F13 Deficiency Type 2 69
Fa13ad 69

Characteristics:

HPO:

63
factor xiiia deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 613225
MedGen36 C2750514
MeSH38 D005177

Summaries for Factor Xiiia Deficiency

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OMIM:51 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:69 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 deficiency11.1

Symptoms for Factor Xiiia Deficiency

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Symptoms by clinical synopsis from OMIM:

613225

Clinical features from OMIM:

613225

Human phenotypes related to Factor Xiiia Deficiency:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 epistaxis63 HP:0000421
2 bruising susceptibility63 HP:0000978
3 intracranial hemorrhage63 HP:0002170
4 joint hemorrhage63 HP:0005261
5 spontaneous hematomas63 HP:0007420
6 reduced factor xiii activity63 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 of26
2 Factor Xiii Subunit a Deficiency24 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:

69
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, 210AGdeletionPathogenicChr na, -1: -1
2F13A1NM_000129.3(F13A1): c.2045G> A (p.Arg682His)SNVPathogenicrs121913064GRCh37Chr 6, 6152046: 6152046
3F13A1NM_000129.3(F13A1): c.514C> T (p.Arg172Ter)SNVPathogenicrs121913065GRCh37Chr 6, 6266848: 6266848
4F13A1NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter)SNVPathogenicrs121913066GRCh37Chr 6, 6182354: 6182354
5F13A1NM_000129.3(F13A1): c.183C> A (p.Asn61Lys)SNVPathogenicrs121913067GRCh37Chr 6, 6305720: 6305720
6F13A1NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg)SNVPathogenicrs121913068GRCh37Chr 6, 6175056: 6175056
7F13A1NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg)SNVPathogenicrs121913069GRCh37Chr 6, 6174873: 6174873
8F13A1NM_000129.3(F13A1): c.1243G> T (p.Val415Phe)SNVPathogenicrs121913070GRCh37Chr 6, 6196092: 6196092
9F13A1NM_000129.3(F13A1): c.782G> A (p.Arg261His)SNVPathogenicrs121913071GRCh37Chr 6, 6248561: 6248561
10F13A1NM_000129.3(F13A1): c.980G> A (p.Arg327Gln)SNVPathogenicrs121913072GRCh37Chr 6, 6222398: 6222398
11F13A1NM_000129.3(F13A1): c.949G> T (p.Val317Phe)SNVPathogenicrs121913073GRCh37Chr 6, 6224943: 6224943
12F13A1NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys)SNVPathogenicrs121913074GRCh37Chr 6, 6225041: 6225041
13F13A1F13A1, 1-BP INS, 1286CinsertionPathogenicChr na, -1: -1
14F13A1F13A1, IVS5AS, G-A, -1SNVPathogenicChr na, -1: -1
15F13A1NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp)SNVPathogenicrs267606787GRCh37Chr 6, 6145941: 6145941
16F13A1NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter)SNVPathogenicrs267606789GRCh37Chr 6, 6152107: 6152107
17F13A1NM_000129.3(F13A1): c.728T> C (p.Met243Thr)SNVPathogenicrs267606788GRCh37Chr 6, 6248615: 6248615
18F13A1F13A1, 4-BP DEL, 602AAAGdeletionPathogenicChr na, -1: -1
19F13A1NM_000129.3(F13A1): c.-19+12A=SNVPathogenicrs2815822GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet