FA13AD
MCID: FCT011
MIFTS: 22

Factor Xiiia Deficiency (FA13AD) 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 52 12
Factor Xiii Subunit a Deficiency 24 70 27
Type Ii F13 Deficiency 70
 
F13 Deficiency Type 2 70
Fa13ad 70

Characteristics:

HPO:

64
factor xiiia deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 613225
MedGen37 C2750514
MeSH39 D005177

Summaries for Factor Xiiia Deficiency

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 epistaxis64 HP:0000421
2 bruising susceptibility64 HP:0000978
3 intracranial hemorrhage64 HP:0002170
4 joint hemorrhage64 HP:0005261
5 spontaneous hematomas64 HP:0007420
6 reduced factor xiii activity64 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 of27
2 Factor Xiii Subunit a Deficiency24 F13A1

Anatomical Context for Factor Xiiia Deficiency

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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:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1F13A1p.Arg682HisVAR_007474
2F13A1p.Pro167LeuVAR_074280
3F13A1p.Arg172GlnVAR_074281
4F13A1p.Gly274ValVAR_074282
5F13A1p.His343TyrVAR_074283
6F13A1p.Gln416ArgVAR_074287
7F13A1p.Leu530ProVAR_074288
8F13A1p.Gln602LysVAR_074289
9F13A1p.Arg704GlnVAR_074290
10F13A1p.Arg716GlyVAR_074291
11F13A1p.Arg38GlnVAR_077619rs759324596
12F13A1p.Tyr168CysVAR_077620
13F13A1p.Pro290ArgVAR_077621
14F13A1p.Arg541GlnVAR_077622
15F13A1p.Gly593SerVAR_077623
16F13A1p.Arg612HisVAR_077624
17F13A1p.Asp669GlyVAR_077625

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)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.103G> T (p.Val35Leu)SNVprotectivers5985GRCh37Chr 6, 6318795: 6318795
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, 1286CinsertionPathogenic
14F13A1F13A1, IVS5AS, G-A, -1SNVPathogenic
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, 602AAAGdeletionPathogenic
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet