FA13AD
MCID: FCT032
MIFTS: 27

Factor Xiii, a Subunit, Deficiency of (FA13AD)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Factor Xiii, a Subunit, Deficiency of

MalaCards integrated aliases for Factor Xiii, a Subunit, Deficiency of:

Name: Factor Xiii, a Subunit, Deficiency of 57 29 6
Factor Xiiia Deficiency 57 13
Factor Xiii Subunit a Deficiency 72
Type Ii F13 Deficiency 72
F13 Deficiency Type 2 72
Fa13ad 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
increased frequency in finland
impaired wound healing
increased rate of miscarriage in affected individuals
worldwide frequency of 1 in 2,000,000


HPO:

31
factor xiii, a subunit, deficiency of:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Factor Xiii, a Subunit, Deficiency of

OMIM® : 57 Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). 21,22:Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2. (613225) (Updated 05-Apr-2021)

MalaCards based summary : Factor Xiii, a Subunit, Deficiency of, also known as factor xiiia deficiency, is related to factor xiii, b subunit, deficiency of and factor xiii deficiency. An important gene associated with Factor Xiii, a Subunit, Deficiency of is F13A1 (Coagulation Factor XIII A Chain). Related phenotypes are epistaxis and bruising susceptibility

UniProtKB/Swiss-Prot : 72 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 Xiii, a Subunit, Deficiency of

Diseases related to Factor Xiii, a Subunit, Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 factor xiii, b subunit, deficiency of 10.0
2 factor xiii deficiency 10.0

Symptoms & Phenotypes for Factor Xiii, a Subunit, Deficiency of

Human phenotypes related to Factor Xiii, a Subunit, Deficiency of:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978
3 intracranial hemorrhage 31 HP:0002170
4 spontaneous hematomas 31 HP:0007420
5 joint hemorrhage 31 HP:0005261
6 ecchymosis 31 HP:0031364
7 reduced factor xiii activity 31 HP:0008357

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
epistaxis

Muscle Soft Tissue:
hematomas
subcutaneous bleeding

Skeletal:
hemarthroses

Neurologic Central Nervous System:
intracranial bleeding

Skin Nails Hair Skin:
ecchymoses
umbilical bleeding after birth

Hematology:
bleeding tendency
deficiency of factor xiii

Head And Neck Mouth:
gum bleeding

Laboratory Abnormalities:
patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

Clinical features from OMIM®:

613225 (Updated 05-Apr-2021)

Drugs & Therapeutics for Factor Xiii, a Subunit, Deficiency of

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-Centre, Multinational, Open-Label, Single-Arm and Multiple Dosing Trial on Safety and Efficacy of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Paediatric Subjects With Congenital Factor XIII A-subunit Deficiency. Safety Extension Trial to F13CD-3760 Completed NCT01253811 Phase 3 catridecacog

Search NIH Clinical Center for Factor Xiii, a Subunit, Deficiency of

Genetic Tests for Factor Xiii, a Subunit, Deficiency of

Genetic tests related to Factor Xiii, a Subunit, Deficiency of:

# Genetic test Affiliating Genes
1 Factor Xiii, a Subunit, Deficiency of 29 F13A1

Anatomical Context for Factor Xiii, a Subunit, Deficiency of

Publications for Factor Xiii, a Subunit, Deficiency of

Articles related to Factor Xiii, a Subunit, Deficiency of:

(show all 45)
# Title Authors PMID Year
1
Identification and characterization of two missense mutations causing factor XIIIA deficiency. 61 6 57
10027709 1999
2
The Arg703Trp missense mutation in F13A1 is a de novo event. 57 6
19438481 2009
3
Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion. 57 6
12100162 2002
4
Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. 6 57
11380452 2001
5
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. 57 6
7727776 1995
6
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. 57 6
7918041 1993
7
Identification of a point mutation in factor XIII A subunit deficiency. 6 57
1353995 1992
8
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. 57 6
1644910 1992
9
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
10
Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2. 6
28520207 2017
11
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations. 6
24118344 2014
12
Congenital factor XIII deficiency: a commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'. 6
21633364 2011
13
Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency. 6
21512576 2011
14
Targeted inactivation of the mouse locus encoding coagulation factor XIII-A: hemostatic abnormalities in mutant mice and characterization of the coagulation deficit. 57
12529747 2002
15
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. 6
11167856 2001
16
Molecular and genetic mechanisms of factor XIII A subunit deficiency. 57
10805274 2000
17
A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene. 6
9712293 1998
18
Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. 6
9531593 1998
19
The normal and abnormal genes of the a and b subunits in coagulation factor XIII. 57
8989821 1996
20
Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. 6
8547636 1996
21
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. 6
8025280 1994
22
Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. 57
2895980 1988
23
Autoimmune antibody (IgG Kansas) against the fibrin stabilizing factor (factor XIII) system. 57
3422419 1988
24
Male fertility in factor XIII deficiency. 57
3457710 1986
25
Congenital factor XIII deficiency: type I and type II disease. 57
4005184 1985
26
Hereditary factor XIII deficiency: report of four families and definition of the carrier state. 57
6696852 1984
27
Factor XIII deficiency. 57
7337960 1981
28
Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits. 6
7236530 1981
29
Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification. 57
6949857 1981
30
Factor XIII. 57
514066 1979
31
Factor XIII deficiency. A family study by measurement of factor XIII subunits A and S. 57
118616 1979
32
Subunits A and S inheritance in four families with congenital factor XIII deficiency. 57
638074 1978
33
Congenital deficiency of factor XIII with normal subunit S and lack of subunit A. Report of a new family. 57
410213 1977
34
Factor XIII deficiency: a genetic study of two affected kindreds in Finland. 57
4811819 1974
35
Immunological studies of coagulation factor XIII. 57
4199604 1973
36
[Congenital deficiency of fibrin stabilizing activity. Presence of a protein immunologically analogous to factor XIII]. 57
4261156 1971
37
Genetic aspects of factor XIII deficiency. 57
5159534 1971
38
Inheritance of factor XIII. 57
5516241 1970
39
Inheritance of deficiency of fibrin-stabilizing factor (factor 13). 57
5413933 1970
40
Congenital deficiency of fibrin-stabilizing factor. Report of a case and family study. 57
5818197 1969
41
Inheritance of fibrin-stabilising-factor deficiency. 57
4169069 1968
42
Factor 13 deficiency with severe hemorrhagic diathesis. 57
5944260 1966
43
A case of fibrin-stabilizing factor (FSF) deficiency. 57
5865597 1965
44
A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. 57
13724728 1960
45
Molecular analysis in factor XIIIA deficiency. 61
7482425 1995

Variations for Factor Xiii, a Subunit, Deficiency of

ClinVar genetic disease variations for Factor Xiii, a Subunit, Deficiency of:

6 (show top 50) (show all 95)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F13A1 F13A1, 2-BP DEL, 210AG Deletion Pathogenic 16523 GRCh37:
GRCh38:
2 F13A1 NM_000129.3(F13A1):c.2045G>A (p.Arg682His) SNV Pathogenic 16524 rs121913064 GRCh37: 6:6152046-6152046
GRCh38: 6:6151813-6151813
3 F13A1 NM_000129.3(F13A1):c.514C>T (p.Arg172Ter) SNV Pathogenic 16525 rs121913065 GRCh37: 6:6266848-6266848
GRCh38: 6:6266615-6266615
4 F13A1 NM_000129.3(F13A1):c.1326C>A (p.Tyr442Ter) SNV Pathogenic 16526 rs121913066 GRCh37: 6:6182354-6182354
GRCh38: 6:6182121-6182121
5 F13A1 NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) SNV Pathogenic 16527 rs121913067 GRCh37: 6:6305720-6305720
GRCh38: 6:6305487-6305487
6 F13A1 NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) SNV Pathogenic 16528 rs121913068 GRCh37: 6:6175056-6175056
GRCh38: 6:6174823-6174823
7 F13A1 NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) SNV Pathogenic 16529 rs121913069 GRCh37: 6:6174873-6174873
GRCh38: 6:6174640-6174640
8 F13A1 NM_000129.3(F13A1):c.1243G>T (p.Val415Phe) SNV Pathogenic 16530 rs121913070 GRCh37: 6:6196092-6196092
GRCh38: 6:6195859-6195859
9 F13A1 NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) SNV Pathogenic 16533 rs121913072 GRCh37: 6:6222398-6222398
GRCh38: 6:6222165-6222165
10 F13A1 NM_000129.3(F13A1):c.949G>T (p.Val317Phe) SNV Pathogenic 16534 rs121913073 GRCh37: 6:6224943-6224943
GRCh38: 6:6224710-6224710
11 F13A1 NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) SNV Pathogenic 16535 rs121913074 GRCh37: 6:6225041-6225041
GRCh38: 6:6224808-6224808
12 F13A1 F13A1, 1-BP INS, 1286C Insertion Pathogenic 16536 GRCh37:
GRCh38:
13 F13A1 NM_000129.4(F13A1):c.691-1G>A SNV Pathogenic 16537 rs372296352 GRCh37: 6:6248653-6248653
GRCh38: 6:6248420-6248420
14 F13A1 NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) SNV Pathogenic 16538 rs267606787 GRCh37: 6:6145941-6145941
GRCh38: 6:6145708-6145708
15 F13A1 NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) SNV Pathogenic 16539 rs267606789 GRCh37: 6:6152107-6152107
GRCh38: 6:6151874-6151874
16 F13A1 NM_000129.3(F13A1):c.728T>C (p.Met243Thr) SNV Pathogenic 16540 rs267606788 GRCh37: 6:6248615-6248615
GRCh38: 6:6248382-6248382
17 F13A1 NM_000129.3:c.603_606delAAGA Microsatellite Pathogenic 29694 rs1416626948 GRCh37: 6:6251128-6251131
GRCh38: 6:6250895-6250898
18 F13A1 NM_000129.3(F13A1):c.-19+12= SNV Pathogenic 29695 rs2815822 GRCh37: 6:6320808-6320808
GRCh38: 6:6320575-6320575
19 F13A1 NM_000129.3(F13A1):c.1817del (p.His606fs) Deletion Pathogenic 617620 rs1561641262 GRCh37: 6:6167782-6167782
GRCh38: 6:6167549-6167549
20 F13A1 NM_000129.3(F13A1):c.1352_1353del (p.His451fs) Deletion Likely pathogenic 561177 rs1561645895 GRCh37: 6:6182327-6182328
GRCh38: 6:6182094-6182095
21 F13A1 NM_000129.3(F13A1):c.233G>T (p.Arg78Leu) SNV Likely pathogenic 627038 rs768024997 GRCh37: 6:6305670-6305670
GRCh38: 6:6305437-6305437
22 F13A1 NM_000129.3(F13A1):c.888C>G (p.Ser296Arg) SNV Likely pathogenic 627157 rs778181928 GRCh37: 6:6225004-6225004
GRCh38: 6:6224771-6224771
23 F13A1 NM_000129.3(F13A1):c.1804C>T (p.Gln602Ter) SNV Likely pathogenic 627260 rs757172838 GRCh37: 6:6167795-6167795
GRCh38: 6:6167562-6167562
24 F13A1 NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) SNV Conflicting interpretations of pathogenicity 627022 rs138754417 GRCh37: 6:6167822-6167822
GRCh38: 6:6167589-6167589
25 F13A1 NM_000129.3(F13A1):c.*42G>A SNV Uncertain significance 357667 rs886061659 GRCh37: 6:6145810-6145810
GRCh38: 6:6145577-6145577
26 F13A1 NM_000129.3(F13A1):c.*67C>T SNV Uncertain significance 357666 rs182425546 GRCh37: 6:6145785-6145785
GRCh38: 6:6145552-6145552
27 F13A1 NM_000129.3(F13A1):c.*627G>A SNV Uncertain significance 357655 rs886061657 GRCh37: 6:6145225-6145225
GRCh38: 6:6144992-6144992
28 F13A1 NM_000129.3(F13A1):c.*927G>A SNV Uncertain significance 357652 rs746364189 GRCh37: 6:6144925-6144925
GRCh38: 6:6144692-6144692
29 F13A1 NM_000129.3(F13A1):c.1860G>C (p.Leu620=) SNV Uncertain significance 357670 rs138943514 GRCh37: 6:6167739-6167739
GRCh38: 6:6167506-6167506
30 F13A1 NM_000129.3(F13A1):c.*1030G>T SNV Uncertain significance 357649 rs548323382 GRCh37: 6:6144822-6144822
GRCh38: 6:6144589-6144589
31 F13A1 NM_000129.3(F13A1):c.990A>T (p.Gly330=) SNV Uncertain significance 357673 rs886061660 GRCh37: 6:6222388-6222388
GRCh38: 6:6222155-6222155
32 F13A1 NM_000129.4(F13A1):c.542C>T (p.Thr181Met) SNV Uncertain significance 908781 GRCh37: 6:6266820-6266820
GRCh38: 6:6266587-6266587
33 F13A1 NM_000129.4(F13A1):c.476G>A (p.Arg159His) SNV Uncertain significance 908782 GRCh37: 6:6266886-6266886
GRCh38: 6:6266653-6266653
34 F13A1 NM_000129.4(F13A1):c.*1455G>C SNV Uncertain significance 909511 GRCh37: 6:6144397-6144397
GRCh38: 6:6144164-6144164
35 F13A1 NM_000129.4(F13A1):c.*1253T>C SNV Uncertain significance 909512 GRCh37: 6:6144599-6144599
GRCh38: 6:6144366-6144366
36 F13A1 NM_000129.4(F13A1):c.*1135G>A SNV Uncertain significance 909513 GRCh37: 6:6144717-6144717
GRCh38: 6:6144484-6144484
37 F13A1 NM_000129.4(F13A1):c.*1045C>G SNV Uncertain significance 909514 GRCh37: 6:6144807-6144807
GRCh38: 6:6144574-6144574
38 F13A1 NM_000129.4(F13A1):c.2169C>T (p.Asp723=) SNV Uncertain significance 782102 rs5989 GRCh37: 6:6145882-6145882
GRCh38: 6:6145649-6145649
39 F13A1 NM_000129.4(F13A1):c.2036A>T (p.Lys679Met) SNV Uncertain significance 909573 GRCh37: 6:6152055-6152055
GRCh38: 6:6151822-6151822
40 F13A1 NM_000129.4(F13A1):c.1998A>G (p.Val666=) SNV Uncertain significance 909574 GRCh37: 6:6152093-6152093
GRCh38: 6:6151860-6151860
41 F13A1 NM_000129.4(F13A1):c.130+15C>G SNV Uncertain significance 909636 GRCh37: 6:6318753-6318753
GRCh38: 6:6318520-6318520
42 F13A1 NC_000006.12:g.6320663G>C SNV Uncertain significance 909637 GRCh37: 6:6320896-6320896
GRCh38: 6:6320663-6320663
43 F13A1 NM_000129.4(F13A1):c.*966G>T SNV Uncertain significance 910450 GRCh37: 6:6144886-6144886
GRCh38: 6:6144653-6144653
44 F13A1 NM_000129.4(F13A1):c.*934G>A SNV Uncertain significance 910451 GRCh37: 6:6144918-6144918
GRCh38: 6:6144685-6144685
45 F13A1 NM_000129.4(F13A1):c.*796G>A SNV Uncertain significance 910452 GRCh37: 6:6145056-6145056
GRCh38: 6:6144823-6144823
46 F13A1 NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) SNV Uncertain significance 910504 GRCh37: 6:6167738-6167738
GRCh38: 6:6167505-6167505
47 F13A1 NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) SNV Uncertain significance 786407 rs5983 GRCh37: 6:6167833-6167833
GRCh38: 6:6167600-6167600
48 F13A1 NM_000129.4(F13A1):c.1761G>A (p.Ala587=) SNV Uncertain significance 910505 GRCh37: 6:6167838-6167838
GRCh38: 6:6167605-6167605
49 F13A1 NM_000129.4(F13A1):c.1748-7C>G SNV Uncertain significance 910506 GRCh37: 6:6167858-6167858
GRCh38: 6:6167625-6167625
50 F13A1 NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) SNV Uncertain significance 910507 GRCh37: 6:6174830-6174830
GRCh38: 6:6174597-6174597

UniProtKB/Swiss-Prot genetic disease variations for Factor Xiii, a Subunit, Deficiency of:

72 (show all 17)
# Symbol AA change Variation ID SNP ID
1 F13A1 p.Arg682His VAR_007474 rs121913064
2 F13A1 p.Pro167Leu VAR_074280 rs746272012
3 F13A1 p.Arg172Gln VAR_074281 rs376147795
4 F13A1 p.Gly274Val VAR_074282
5 F13A1 p.His343Tyr VAR_074283
6 F13A1 p.Gln416Arg VAR_074287
7 F13A1 p.Leu530Pro VAR_074288
8 F13A1 p.Gln602Lys VAR_074289 rs757172838
9 F13A1 p.Arg704Gln VAR_074290 rs377484555
10 F13A1 p.Arg716Gly VAR_074291 rs778206273
11 F13A1 p.Arg38Gln VAR_077619 rs759324596
12 F13A1 p.Tyr168Cys VAR_077620 rs779361778
13 F13A1 p.Pro290Arg VAR_077621
14 F13A1 p.Arg541Gln VAR_077622 rs367679357
15 F13A1 p.Gly593Ser VAR_077623 rs138754417
16 F13A1 p.Arg612His VAR_077624 rs369187276
17 F13A1 p.Asp669Gly VAR_077625 rs375129902

Expression for Factor Xiii, a Subunit, Deficiency of

Search GEO for disease gene expression data for Factor Xiii, a Subunit, Deficiency of.

Pathways for Factor Xiii, a Subunit, Deficiency of

GO Terms for Factor Xiii, a Subunit, Deficiency of

Sources for Factor Xiii, a Subunit, Deficiency of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....