FA13BD
MCID: FCT033
MIFTS: 23

Factor Xiii, B Subunit, Deficiency of (FA13BD)

Categories: Blood diseases, Genetic diseases

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

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

Name: Factor Xiii, B Subunit, Deficiency of 57 29 6
Factor Xiiib Deficiency 57 13
Factor Xiii Subunit B Deficiency 72
F13 Deficiency Type 1 72
Type I F13 Deficiency 72
Fa13bd 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

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


Classifications:



External Ids:

OMIM® 57 613235
MeSH 44 D005177
MedGen 41 C2750481

Summaries for Factor Xiii, B 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). 2,3: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. (613235) (Updated 05-Apr-2021)

MalaCards based summary : Factor Xiii, B Subunit, Deficiency of, also known as factor xiiib deficiency, is related to factor xiii, a subunit, deficiency of and factor xiii deficiency. An important gene associated with Factor Xiii, B Subunit, Deficiency of is F13B (Coagulation Factor XIII B Chain). Related phenotypes are bruising susceptibility and abnormal umbilical stump bleeding

UniProtKB/Swiss-Prot : 72 Factor XIII subunit B 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, B Subunit, Deficiency of

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

# Related Disease Score Top Affiliating Genes
1 factor xiii, a subunit, deficiency of 11.3
2 factor xiii deficiency 10.1

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

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

31
# Description HPO Frequency HPO Source Accession
1 bruising susceptibility 31 HP:0000978
2 abnormal umbilical stump bleeding 31 HP:0011884
3 prolonged bleeding after surgery 31 HP:0004846
4 ecchymosis 31 HP:0031364
5 reduced factor xiii activity 31 HP:0008357

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
ecchymoses
umbilical bleeding after birth
postoperative bleeding

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

Hematology:
bleeding tendency
deficiency of factor xiii

Clinical features from OMIM®:

613235 (Updated 05-Apr-2021)

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

Search Clinical Trials , NIH Clinical Center for Factor Xiii, B Subunit, Deficiency of

Genetic Tests for Factor Xiii, B Subunit, Deficiency of

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

# Genetic test Affiliating Genes
1 Factor Xiii, B Subunit, Deficiency of 29 F13B

Anatomical Context for Factor Xiii, B Subunit, Deficiency of

Publications for Factor Xiii, B Subunit, Deficiency of

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

# Title Authors PMID Year
1
A familial factor XIII subunit B deficiency. 6 57 61
2334637 1990
2
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. 57 6
11313256 2001
3
Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. 57 6
8324218 1993
4
Molecular and genetic mechanisms of factor XIII A subunit deficiency. 57
10805274 2000
5
Identification and characterization of two missense mutations causing factor XIIIA deficiency. 57
10027709 1999
6
Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. 6
8639893 1996
7
The normal and abnormal genes of the a and b subunits in coagulation factor XIII. 57
8989821 1996
8
Factor XIII subunit B deficiency. 61
2094340 1990

Variations for Factor Xiii, B Subunit, Deficiency of

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

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F13B F13B, 1-BP DEL, IVS1AS, A, -2 Deletion Pathogenic 16518 GRCh37:
GRCh38:
2 F13B NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) SNV Pathogenic 16519 rs121913075 GRCh37: 1:197024850-197024850
GRCh38: 1:197055720-197055720
3 F13B F13B, 3-BP INS, AAC Insertion Pathogenic 16521 GRCh37:
GRCh38:
4 F13B NM_001994.2(F13B):c.1498del (p.Glu500fs) Deletion Pathogenic 16522 rs797044453 GRCh37: 1:197021821-197021821
GRCh38: 1:197052691-197052691
5 F13B NM_001994.3(F13B):c.242G>A (p.Trp81Ter) SNV Pathogenic 1030503 GRCh37: 1:197032010-197032010
GRCh38: 1:197062880-197062880
6 F13B NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) Duplication Pathogenic 1033879 GRCh37: 1:197026158-197026159
GRCh38: 1:197057028-197057029
7 F13B NM_001994.3(F13B):c.1803del (p.Asp601fs) Deletion Pathogenic 1033880 GRCh37: 1:197009801-197009801
GRCh38: 1:197040671-197040671
8 F13B NM_001994.3(F13B):c.1942C>T (p.Pro648Ser) SNV Uncertain significance 1033881 GRCh37: 1:197009662-197009662
GRCh38: 1:197040532-197040532
9 F13B NM_001994.2(F13B):c.1163A>T (p.Glu388Val) SNV Uncertain significance 294576 rs5991 GRCh37: 1:197026151-197026151
GRCh38: 1:197057021-197057021
10 F13B NM_001994.2(F13B):c.1556-13C>A SNV Uncertain significance 258503 rs149088047 GRCh37: 1:197020022-197020022
GRCh38: 1:197050892-197050892
11 F13B NM_001994.2(F13B):c.1739-8_1739-6del Microsatellite Uncertain significance 294571 rs556380704 GRCh37: 1:197009871-197009873
GRCh38: 1:197040741-197040743
12 F13B NM_001994.2(F13B):c.986-4T>C SNV Uncertain significance 294582 rs76405247 GRCh37: 1:197026332-197026332
GRCh38: 1:197057202-197057202
13 F13B NM_001994.2(F13B):c.1089A>C (p.Ala363=) SNV Uncertain significance 294579 rs117019969 GRCh37: 1:197026225-197026225
GRCh38: 1:197057095-197057095
14 F13B NM_001994.2(F13B):c.1815C>T (p.His605=) SNV Uncertain significance 294570 rs375961962 GRCh37: 1:197009789-197009789
GRCh38: 1:197040659-197040659
15 F13B NM_001994.2(F13B):c.645_647del (p.Leu216del) Deletion Uncertain significance 294585 rs750927097 GRCh37: 1:197029654-197029656
GRCh38: 1:197060524-197060526
16 F13B NM_001994.2(F13B):c.1145A>G (p.Lys382Arg) SNV Uncertain significance 294577 rs755966271 GRCh37: 1:197026169-197026169
GRCh38: 1:197057039-197057039
17 F13B NM_001994.2(F13B):c.1320A>G (p.Glu440=) SNV Uncertain significance 294574 rs147383994 GRCh37: 1:197024879-197024879
GRCh38: 1:197055749-197055749
18 F13B NM_001994.2(F13B):c.570G>A (p.Lys190=) SNV Uncertain significance 294586 rs17514253 GRCh37: 1:197030087-197030087
GRCh38: 1:197060957-197060957
19 F13B NM_001994.2(F13B):c.877C>T (p.Arg293Cys) SNV Uncertain significance 294583 rs780257236 GRCh37: 1:197026524-197026524
GRCh38: 1:197057394-197057394
20 F13B NM_001994.2(F13B):c.1961C>T (p.Ser654Phe) SNV Uncertain significance 294568 rs561359007 GRCh37: 1:197008533-197008533
GRCh38: 1:197039403-197039403
21 F13B NM_001994.2(F13B):c.1060T>C (p.Tyr354His) SNV Uncertain significance 294580 rs376295989 GRCh37: 1:197026254-197026254
GRCh38: 1:197057124-197057124
22 F13B NM_001994.2(F13B):c.*162C>A SNV Uncertain significance 294565 rs180977741 GRCh37: 1:197008346-197008346
GRCh38: 1:197039216-197039216
23 F13B NM_001994.2(F13B):c.1285T>C (p.Tyr429His) SNV Uncertain significance 294575 rs201427054 GRCh37: 1:197024914-197024914
GRCh38: 1:197055784-197055784
24 F13B NM_001994.2(F13B):c.1025T>C (p.Ile342Thr) SNV Uncertain significance 294581 rs17514281 GRCh37: 1:197026289-197026289
GRCh38: 1:197057159-197057159
25 F13B NM_001994.2(F13B):c.1098C>T (p.Ser366=) SNV Uncertain significance 294578 rs771474972 GRCh37: 1:197026216-197026216
GRCh38: 1:197057086-197057086
26 F13B NM_001994.2(F13B):c.-30T>A SNV Uncertain significance 294588 rs767006990 GRCh37: 1:197036383-197036383
GRCh38: 1:197067253-197067253
27 F13B NM_001994.2(F13B):c.1670A>G (p.His557Arg) SNV Uncertain significance 294573 rs759631235 GRCh37: 1:197019895-197019895
GRCh38: 1:197050765-197050765
28 F13B NM_001994.2(F13B):c.796G>C (p.Val266Leu) SNV Uncertain significance 294584 rs533222920 GRCh37: 1:197029505-197029505
GRCh38: 1:197060375-197060375
29 F13B NM_001994.2(F13B):c.1902G>A (p.Met634Ile) SNV Uncertain significance 294569 rs142886126 GRCh37: 1:197009702-197009702
GRCh38: 1:197040572-197040572
30 F13B NM_001994.2(F13B):c.354C>T (p.Cys118=) SNV Uncertain significance 294587 rs142562955 GRCh37: 1:197031011-197031011
GRCh38: 1:197061881-197061881
31 F13B NM_001994.3(F13B):c.1106T>C (p.Leu369Pro) SNV Uncertain significance 873766 GRCh37: 1:197026208-197026208
GRCh38: 1:197057078-197057078
32 F13B NM_001994.3(F13B):c.1049A>G (p.His350Arg) SNV Uncertain significance 717818 rs5999 GRCh37: 1:197026265-197026265
GRCh38: 1:197057135-197057135
33 F13B NM_001994.3(F13B):c.889A>C (p.Ile297Leu) SNV Uncertain significance 874719 GRCh37: 1:197026512-197026512
GRCh38: 1:197057382-197057382
34 F13B NM_001994.3(F13B):c.874T>G (p.Tyr292Asp) SNV Uncertain significance 874720 GRCh37: 1:197026527-197026527
GRCh38: 1:197057397-197057397
35 F13B NM_001994.3(F13B):c.815A>G (p.Asn272Ser) SNV Uncertain significance 874721 GRCh37: 1:197026586-197026586
GRCh38: 1:197057456-197057456
36 F13B NM_001994.3(F13B):c.765C>T (p.Cys255=) SNV Uncertain significance 787218 rs5994 GRCh37: 1:197029536-197029536
GRCh38: 1:197060406-197060406
37 F13B NM_001994.3(F13B):c.675T>A (p.His225Gln) SNV Uncertain significance 874722 GRCh37: 1:197029626-197029626
GRCh38: 1:197060496-197060496
38 F13B NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) SNV Uncertain significance 875613 GRCh37: 1:197009669-197009669
GRCh38: 1:197040539-197040539
39 F13B NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys) SNV Uncertain significance 875614 GRCh37: 1:197009727-197009727
GRCh38: 1:197040597-197040597
40 F13B NM_001994.3(F13B):c.224C>T (p.Thr75Met) SNV Uncertain significance 875659 GRCh37: 1:197032028-197032028
GRCh38: 1:197062898-197062898
41 F13B NM_001994.3(F13B):c.96T>C (p.Asn32=) SNV Uncertain significance 875660 GRCh37: 1:197032156-197032156
GRCh38: 1:197063026-197063026
42 F13B NM_001994.3(F13B):c.1586T>C (p.Leu529Pro) SNV Uncertain significance 717817 rs17549671 GRCh37: 1:197019979-197019979
GRCh38: 1:197050849-197050849
43 F13B NM_001994.3(F13B):c.1317C>T (p.Cys439=) SNV Uncertain significance 876610 GRCh37: 1:197024882-197024882
GRCh38: 1:197055752-197055752
44 F13B NM_001994.3(F13B):c.1257C>A (p.Ser419=) SNV Uncertain significance 876611 GRCh37: 1:197024942-197024942
GRCh38: 1:197055812-197055812
45 F13B NM_001994.3(F13B):c.1228G>A (p.Gly410Arg) SNV Uncertain significance 876612 GRCh37: 1:197024971-197024971
GRCh38: 1:197055841-197055841
46 F13B NM_001994.3(F13B):c.-23C>A SNV Uncertain significance 876658 GRCh37: 1:197036376-197036376
GRCh38: 1:197067246-197067246
47 F13B NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) SNV Likely benign 294572 rs6000 GRCh37: 1:197019858-197019858
GRCh38: 1:197050728-197050728
48 F13B NM_001994.2(F13B):c.*89G>C SNV Likely benign 294567 rs17549873 GRCh37: 1:197008419-197008419
GRCh38: 1:197039289-197039289
49 F13B NM_001994.2(F13B):c.*143G>A SNV Benign 294566 rs698859 GRCh37: 1:197008365-197008365
GRCh38: 1:197039235-197039235
50 F13B NM_001994.2(F13B):c.1806T>C (p.Asn602=) SNV Benign 258504 rs5998 GRCh37: 1:197009798-197009798
GRCh38: 1:197040668-197040668

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

72
# Symbol AA change Variation ID SNP ID
1 F13B p.Cys450Phe VAR_007475 rs121913075
2 F13B p.Cys25Arg VAR_074563 rs123230244
3 F13B p.Ile101Asn VAR_074564 rs753009140
4 F13B p.Cys336Phe VAR_074567 rs778826479
5 F13B p.Val421Glu VAR_074568
6 F13B p.Pro448Ser VAR_074569

Expression for Factor Xiii, B Subunit, Deficiency of

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

Pathways for Factor Xiii, B Subunit, Deficiency of

GO Terms for Factor Xiii, B Subunit, Deficiency of

Sources for Factor Xiii, B 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
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