MCID: FCT032
MIFTS: 22

Factor Xiii, a Subunit, Deficiency of

Categories: 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
Factor Xiii Subunit a Deficiency 75 29 6
Factor Xiiia Deficiency 57 13
Type Ii F13 Deficiency 75
F13 Deficiency Type 2 75
Fa13ad 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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)

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

UniProtKB/Swiss-Prot : 75 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 11.2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Skeletal:
hemarthroses

Muscle Soft Tissue:
hematomas
subcutaneous bleeding

Hematology:
bleeding tendency
deficiency of factor xiii

Head And Neck Mouth:
gum bleeding

Skin Nails Hair Skin:
umbilical bleeding after birth
ecchymoses

Neurologic Central Nervous System:
intracranial 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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 spontaneous hematomas 32 HP:0007420
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 intracranial hemorrhage 32 HP:0002170
5 joint hemorrhage 32 HP:0005261
6 reduced factor xiii activity 32 HP:0008357

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

Search Clinical Trials , 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 Subunit a Deficiency 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:

# Title Authors Year
1
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. ( 7727776 )
1995

Variations for Factor Xiii, a Subunit, Deficiency of

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

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 F13A1 p.Arg682His VAR_007474
2 F13A1 p.Pro167Leu VAR_074280
3 F13A1 p.Arg172Gln VAR_074281
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
9 F13A1 p.Arg704Gln VAR_074290
10 F13A1 p.Arg716Gly VAR_074291
11 F13A1 p.Arg38Gln VAR_077619 rs759324596
12 F13A1 p.Tyr168Cys VAR_077620
13 F13A1 p.Pro290Arg VAR_077621
14 F13A1 p.Arg541Gln VAR_077622
15 F13A1 p.Gly593Ser VAR_077623
16 F13A1 p.Arg612His VAR_077624
17 F13A1 p.Asp669Gly VAR_077625

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

6
(show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 F13A1 F13A1, 2-BP DEL, 210AG deletion Pathogenic
2 F13A1 NM_000129.3(F13A1): c.2045G> A (p.Arg682His) single nucleotide variant Pathogenic rs121913064 GRCh37 Chromosome 6, 6152046: 6152046
3 F13A1 NM_000129.3(F13A1): c.2045G> A (p.Arg682His) single nucleotide variant Pathogenic rs121913064 GRCh38 Chromosome 6, 6151813: 6151813
4 F13A1 NM_000129.3(F13A1): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs121913065 GRCh37 Chromosome 6, 6266848: 6266848
5 F13A1 NM_000129.3(F13A1): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs121913065 GRCh38 Chromosome 6, 6266615: 6266615
6 F13A1 NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter) single nucleotide variant Pathogenic rs121913066 GRCh37 Chromosome 6, 6182354: 6182354
7 F13A1 NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter) single nucleotide variant Pathogenic rs121913066 GRCh38 Chromosome 6, 6182121: 6182121
8 F13A1 NM_000129.3(F13A1): c.183C> A (p.Asn61Lys) single nucleotide variant Pathogenic rs121913067 GRCh37 Chromosome 6, 6305720: 6305720
9 F13A1 NM_000129.3(F13A1): c.183C> A (p.Asn61Lys) single nucleotide variant Pathogenic rs121913067 GRCh38 Chromosome 6, 6305487: 6305487
10 F13A1 NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg) single nucleotide variant Pathogenic rs121913068 GRCh37 Chromosome 6, 6175056: 6175056
11 F13A1 NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg) single nucleotide variant Pathogenic rs121913068 GRCh38 Chromosome 6, 6174823: 6174823
12 F13A1 NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg) single nucleotide variant Pathogenic rs121913069 GRCh37 Chromosome 6, 6174873: 6174873
13 F13A1 NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg) single nucleotide variant Pathogenic rs121913069 GRCh38 Chromosome 6, 6174640: 6174640
14 F13A1 NM_000129.3(F13A1): c.1243G> T (p.Val415Phe) single nucleotide variant Pathogenic rs121913070 GRCh37 Chromosome 6, 6196092: 6196092
15 F13A1 NM_000129.3(F13A1): c.1243G> T (p.Val415Phe) single nucleotide variant Pathogenic rs121913070 GRCh38 Chromosome 6, 6195859: 6195859
16 F13A1 NM_000129.3(F13A1): c.980G> A (p.Arg327Gln) single nucleotide variant Pathogenic rs121913072 GRCh37 Chromosome 6, 6222398: 6222398
17 F13A1 NM_000129.3(F13A1): c.980G> A (p.Arg327Gln) single nucleotide variant Pathogenic rs121913072 GRCh38 Chromosome 6, 6222165: 6222165
18 F13A1 NM_000129.3(F13A1): c.949G> T (p.Val317Phe) single nucleotide variant Pathogenic rs121913073 GRCh37 Chromosome 6, 6224943: 6224943
19 F13A1 NM_000129.3(F13A1): c.949G> T (p.Val317Phe) single nucleotide variant Pathogenic rs121913073 GRCh38 Chromosome 6, 6224710: 6224710
20 F13A1 NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs121913074 GRCh37 Chromosome 6, 6225041: 6225041
21 F13A1 NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs121913074 GRCh38 Chromosome 6, 6224808: 6224808
22 F13A1 F13A1, 1-BP INS, 1286C insertion Pathogenic
23 F13A1 F13A1, IVS5AS, G-A, -1 single nucleotide variant Pathogenic
24 F13A1 NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp) single nucleotide variant Pathogenic rs267606787 GRCh37 Chromosome 6, 6145941: 6145941
25 F13A1 NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp) single nucleotide variant Pathogenic rs267606787 GRCh38 Chromosome 6, 6145708: 6145708
26 F13A1 NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter) single nucleotide variant Pathogenic rs267606789 GRCh37 Chromosome 6, 6152107: 6152107
27 F13A1 NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter) single nucleotide variant Pathogenic rs267606789 GRCh38 Chromosome 6, 6151874: 6151874
28 F13A1 NM_000129.3(F13A1): c.728T> C (p.Met243Thr) single nucleotide variant Pathogenic rs267606788 GRCh37 Chromosome 6, 6248615: 6248615
29 F13A1 NM_000129.3(F13A1): c.728T> C (p.Met243Thr) single nucleotide variant Pathogenic rs267606788 GRCh38 Chromosome 6, 6248382: 6248382
30 F13A1 F13A1, 4-BP DEL, 602AAAG deletion Pathogenic
31 F13A1 NM_000129.3(F13A1): c.-19+12A= single nucleotide variant Pathogenic rs2815822 GRCh37 Chromosome 6, 6320808: 6320808
32 F13A1 NM_000129.3(F13A1): c.-19+12A= single nucleotide variant Pathogenic rs2815822 GRCh38 Chromosome 6, 6320575: 6320575
33 F13A1 NM_000129.3(F13A1): c.1954G> C (p.Glu652Gln) single nucleotide variant Likely benign rs5988 GRCh37 Chromosome 6, 6152137: 6152137
34 F13A1 NM_000129.3(F13A1): c.1954G> C (p.Glu652Gln) single nucleotide variant Likely benign rs5988 GRCh38 Chromosome 6, 6151904: 6151904
35 F13A1 NM_000129.3(F13A1): c.1951G> A (p.Val651Ile) single nucleotide variant Likely benign rs5987 GRCh38 Chromosome 6, 6151907: 6151907
36 F13A1 NM_000129.3(F13A1): c.1951G> A (p.Val651Ile) single nucleotide variant Likely benign rs5987 GRCh37 Chromosome 6, 6152140: 6152140
37 F13A1 NM_000129.3(F13A1): c.1704A> G (p.Glu568=) single nucleotide variant Likely benign rs5986 GRCh38 Chromosome 6, 6174623: 6174623
38 F13A1 NM_000129.3(F13A1): c.1704A> G (p.Glu568=) single nucleotide variant Likely benign rs5986 GRCh37 Chromosome 6, 6174856: 6174856
39 F13A1 NM_000129.3(F13A1): c.1694C> T (p.Pro565Leu) single nucleotide variant Likely benign rs5982 GRCh38 Chromosome 6, 6174633: 6174633
40 F13A1 NM_000129.3(F13A1): c.1694C> T (p.Pro565Leu) single nucleotide variant Likely benign rs5982 GRCh37 Chromosome 6, 6174866: 6174866
41 F13A1 NM_000129.3(F13A1): c.996A> C (p.Pro332=) single nucleotide variant Likely benign rs5981 GRCh37 Chromosome 6, 6222382: 6222382
42 F13A1 NM_000129.3(F13A1): c.996A> C (p.Pro332=) single nucleotide variant Likely benign rs5981 GRCh38 Chromosome 6, 6222149: 6222149
43 F13A1 NM_000129.3(F13A1): c.*1030G> T single nucleotide variant Uncertain significance rs548323382 GRCh37 Chromosome 6, 6144822: 6144822
44 F13A1 NM_000129.3(F13A1): c.*1030G> T single nucleotide variant Uncertain significance rs548323382 GRCh38 Chromosome 6, 6144589: 6144589
45 F13A1 NM_000129.3(F13A1): c.*995G> T single nucleotide variant Likely benign rs3024466 GRCh37 Chromosome 6, 6144857: 6144857
46 F13A1 NM_000129.3(F13A1): c.*995G> T single nucleotide variant Likely benign rs3024466 GRCh38 Chromosome 6, 6144624: 6144624
47 F13A1 NM_000129.3(F13A1): c.*945T> C single nucleotide variant Uncertain significance rs774737661 GRCh37 Chromosome 6, 6144907: 6144907
48 F13A1 NM_000129.3(F13A1): c.*945T> C single nucleotide variant Uncertain significance rs774737661 GRCh38 Chromosome 6, 6144674: 6144674
49 F13A1 NM_000129.3(F13A1): c.-19+12A> C single nucleotide variant Benign rs2815822 GRCh37 Chromosome 6, 6320808: 6320808
50 F13A1 NM_000129.3(F13A1): c.*627G> A single nucleotide variant Uncertain significance rs886061657 GRCh37 Chromosome 6, 6145225: 6145225

Expression for Factor Xiii, a Subunit, Deficiency of

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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

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