MCID: FCT033
MIFTS: 20

Factor Xiii, B Subunit, Deficiency of

Categories: 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
Factor Xiii Subunit B Deficiency 75 29 6
Factor Xiiib Deficiency 57 13
F13 Deficiency Type 1 75
Type I F13 Deficiency 75
Fa13bd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
factor xiii, b subunit, deficiency of:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 613235
MedGen 42 C2750481
MeSH 44 D005177

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)

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

UniProtKB/Swiss-Prot : 75 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 11.2

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
umbilical bleeding after birth
postoperative bleeding
ecchymoses

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

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

32
# Description HPO Frequency HPO Source Accession
1 bruising susceptibility 32 HP:0000978
2 prolonged bleeding after surgery 32 HP:0004846
3 reduced factor xiii activity 32 HP:0008357
4 abnormal umbilical stump bleeding 32 HP:0011884

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 Subunit B Deficiency 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 Year
1
Factor XIII subunit B deficiency. ( 2094340 )
1990
2
A familial factor XIII subunit B deficiency. ( 2334637 )
1990

Variations for Factor Xiii, B Subunit, Deficiency of

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

75
# Symbol AA change Variation ID SNP ID
1 F13B p.Cys450Phe VAR_007475 rs121913075
2 F13B p.Cys25Arg VAR_074563
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

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

6
(show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 F13B F13B, 1-BP DEL, IVS1AS, A, -2 deletion Pathogenic
2 F13B NM_001994.2(F13B): c.1349G> T (p.Cys450Phe) single nucleotide variant Pathogenic rs121913075 GRCh37 Chromosome 1, 197024850: 197024850
3 F13B NM_001994.2(F13B): c.1349G> T (p.Cys450Phe) single nucleotide variant Pathogenic rs121913075 GRCh38 Chromosome 1, 197055720: 197055720
4 F13B F13B, 3-BP INS, AAC insertion Pathogenic
5 F13B NM_001994.2(F13B): c.1498delG (p.Glu500Asnfs) deletion Pathogenic rs797044453 GRCh38 Chromosome 1, 197052691: 197052691
6 F13B NM_001994.2(F13B): c.1498delG (p.Glu500Asnfs) deletion Pathogenic rs797044453 GRCh37 Chromosome 1, 197021821: 197021821
7 F13B NM_001994.2(F13B): c.1806T> C (p.Asn602=) single nucleotide variant Benign rs5998 GRCh37 Chromosome 1, 197009798: 197009798
8 F13B NM_001994.2(F13B): c.1806T> C (p.Asn602=) single nucleotide variant Benign rs5998 GRCh38 Chromosome 1, 197040668: 197040668
9 F13B NM_001994.2(F13B): c.1556-13C> A single nucleotide variant Uncertain significance rs149088047 GRCh37 Chromosome 1, 197020022: 197020022
10 F13B NM_001994.2(F13B): c.1556-13C> A single nucleotide variant Uncertain significance rs149088047 GRCh38 Chromosome 1, 197050892: 197050892
11 F13B NM_001994.2(F13B): c.456A> G (p.Thr152=) single nucleotide variant Benign rs5997 GRCh37 Chromosome 1, 197030201: 197030201
12 F13B NM_001994.2(F13B): c.456A> G (p.Thr152=) single nucleotide variant Benign rs5997 GRCh38 Chromosome 1, 197061071: 197061071
13 F13B NM_001994.2(F13B): c.*162C> A single nucleotide variant Uncertain significance rs180977741 GRCh38 Chromosome 1, 197039216: 197039216
14 F13B NM_001994.2(F13B): c.*162C> A single nucleotide variant Uncertain significance rs180977741 GRCh37 Chromosome 1, 197008346: 197008346
15 F13B NM_001994.2(F13B): c.*143G> A single nucleotide variant Likely benign rs698859 GRCh38 Chromosome 1, 197039235: 197039235
16 F13B NM_001994.2(F13B): c.*143G> A single nucleotide variant Likely benign rs698859 GRCh37 Chromosome 1, 197008365: 197008365
17 F13B NM_001994.2(F13B): c.1815C> T (p.His605=) single nucleotide variant Uncertain significance rs375961962 GRCh38 Chromosome 1, 197040659: 197040659
18 F13B NM_001994.2(F13B): c.1815C> T (p.His605=) single nucleotide variant Uncertain significance rs375961962 GRCh37 Chromosome 1, 197009789: 197009789
19 F13B NM_001994.2(F13B): c.1707T> G (p.Asp569Glu) single nucleotide variant Uncertain significance rs6000 GRCh38 Chromosome 1, 197050728: 197050728
20 F13B NM_001994.2(F13B): c.1707T> G (p.Asp569Glu) single nucleotide variant Uncertain significance rs6000 GRCh37 Chromosome 1, 197019858: 197019858
21 F13B NM_001994.2(F13B): c.1320A> G (p.Glu440=) single nucleotide variant Uncertain significance rs147383994 GRCh38 Chromosome 1, 197055749: 197055749
22 F13B NM_001994.2(F13B): c.1320A> G (p.Glu440=) single nucleotide variant Uncertain significance rs147383994 GRCh37 Chromosome 1, 197024879: 197024879
23 F13B NM_001994.2(F13B): c.1163A> T (p.Glu388Val) single nucleotide variant Uncertain significance rs5991 GRCh38 Chromosome 1, 197057021: 197057021
24 F13B NM_001994.2(F13B): c.1163A> T (p.Glu388Val) single nucleotide variant Uncertain significance rs5991 GRCh37 Chromosome 1, 197026151: 197026151
25 F13B NM_001994.2(F13B): c.1098C> T (p.Ser366=) single nucleotide variant Uncertain significance rs771474972 GRCh38 Chromosome 1, 197057086: 197057086
26 F13B NM_001994.2(F13B): c.1098C> T (p.Ser366=) single nucleotide variant Uncertain significance rs771474972 GRCh37 Chromosome 1, 197026216: 197026216
27 F13B NM_001994.2(F13B): c.1961C> T (p.Ser654Phe) single nucleotide variant Uncertain significance rs561359007 GRCh38 Chromosome 1, 197039403: 197039403
28 F13B NM_001994.2(F13B): c.1961C> T (p.Ser654Phe) single nucleotide variant Uncertain significance rs561359007 GRCh37 Chromosome 1, 197008533: 197008533
29 F13B NM_001994.2(F13B): c.1902G> A (p.Met634Ile) single nucleotide variant Uncertain significance rs142886126 GRCh37 Chromosome 1, 197009702: 197009702
30 F13B NM_001994.2(F13B): c.1902G> A (p.Met634Ile) single nucleotide variant Uncertain significance rs142886126 GRCh38 Chromosome 1, 197040572: 197040572
31 F13B NM_001994.2(F13B): c.1285T> C (p.Tyr429His) single nucleotide variant Uncertain significance rs201427054 GRCh38 Chromosome 1, 197055784: 197055784
32 F13B NM_001994.2(F13B): c.1285T> C (p.Tyr429His) single nucleotide variant Uncertain significance rs201427054 GRCh37 Chromosome 1, 197024914: 197024914
33 F13B NM_001994.2(F13B): c.1145A> G (p.Lys382Arg) single nucleotide variant Uncertain significance rs755966271 GRCh38 Chromosome 1, 197057039: 197057039
34 F13B NM_001994.2(F13B): c.1145A> G (p.Lys382Arg) single nucleotide variant Uncertain significance rs755966271 GRCh37 Chromosome 1, 197026169: 197026169
35 F13B NM_001994.2(F13B): c.645_647delTTT (p.Leu216del) deletion Uncertain significance rs750927097 GRCh38 Chromosome 1, 197060524: 197060526
36 F13B NM_001994.2(F13B): c.645_647delTTT (p.Leu216del) deletion Uncertain significance rs750927097 GRCh37 Chromosome 1, 197029654: 197029656
37 F13B NM_001994.2(F13B): c.1060T> C (p.Tyr354His) single nucleotide variant Uncertain significance rs376295989 GRCh38 Chromosome 1, 197057124: 197057124
38 F13B NM_001994.2(F13B): c.1060T> C (p.Tyr354His) single nucleotide variant Uncertain significance rs376295989 GRCh37 Chromosome 1, 197026254: 197026254
39 F13B NM_001994.2(F13B): c.986-4T> C single nucleotide variant Uncertain significance rs76405247 GRCh38 Chromosome 1, 197057202: 197057202
40 F13B NM_001994.2(F13B): c.986-4T> C single nucleotide variant Uncertain significance rs76405247 GRCh37 Chromosome 1, 197026332: 197026332
41 F13B NM_001994.2(F13B): c.796G> C (p.Val266Leu) single nucleotide variant Uncertain significance rs533222920 GRCh38 Chromosome 1, 197060375: 197060375
42 F13B NM_001994.2(F13B): c.796G> C (p.Val266Leu) single nucleotide variant Uncertain significance rs533222920 GRCh37 Chromosome 1, 197029505: 197029505
43 F13B NM_001994.2(F13B): c.*89G> C single nucleotide variant Uncertain significance rs17549873 GRCh38 Chromosome 1, 197039289: 197039289
44 F13B NM_001994.2(F13B): c.*89G> C single nucleotide variant Uncertain significance rs17549873 GRCh37 Chromosome 1, 197008419: 197008419
45 F13B NM_001994.2(F13B): c.1739-8_1739-6delGTT deletion Uncertain significance rs556380704 GRCh38 Chromosome 1, 197040741: 197040743
46 F13B NM_001994.2(F13B): c.1739-8_1739-6delGTT deletion Uncertain significance rs556380704 GRCh37 Chromosome 1, 197009871: 197009873
47 F13B NM_001994.2(F13B): c.1670A> G (p.His557Arg) single nucleotide variant Uncertain significance rs759631235 GRCh38 Chromosome 1, 197050765: 197050765
48 F13B NM_001994.2(F13B): c.1670A> G (p.His557Arg) single nucleotide variant Uncertain significance rs759631235 GRCh37 Chromosome 1, 197019895: 197019895
49 F13B NM_001994.2(F13B): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs17514281 GRCh38 Chromosome 1, 197057159: 197057159
50 F13B NM_001994.2(F13B): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs17514281 GRCh37 Chromosome 1, 197026289: 197026289

Expression for Factor Xiii, B Subunit, Deficiency of

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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

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