Aliases & Classifications for Factor Xiiia Deficiency

MalaCards integrated aliases for Factor Xiiia Deficiency:

Name: Factor Xiiia Deficiency 54 13
Factor Xiii Subunit a Deficiency 24 71
Factor Xiii, a Subunit, Deficiency of 29
Type Ii F13 Deficiency 71
F13 Deficiency Type 2 71
Fa13ad 71

Characteristics:

OMIM:

54
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:

32
factor xiiia deficiency:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Factor Xiiia Deficiency

OMIM : 54
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 Xiiia Deficiency, also known as factor xiii subunit a deficiency, is related to factor xiiib deficiency, and has symptoms including epistaxis, intracranial hemorrhage and spontaneous hematomas. An important gene associated with Factor Xiiia Deficiency is F13A1 (Coagulation Factor XIII A Chain).

UniProtKB/Swiss-Prot : 71 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

Diseases related to Factor Xiiia Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 factor xiiib deficiency 11.1

Symptoms & Phenotypes for Factor Xiiia Deficiency

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
epistaxis

Hematology:
bleeding tendency
deficiency of factor xiii

Skeletal:
hemarthroses

Neurologic- Central Nervous System:
intracranial bleeding

Skin Nails & Hair- Skin:
umbilical bleeding after birth
ecchymoses

Head And Neck- Mouth:
gum bleeding

Muscle Soft Tissue:
hematomas
subcutaneous 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 Xiiia Deficiency:

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

Drugs & Therapeutics for Factor Xiiia Deficiency

Search Clinical Trials , NIH Clinical Center for Factor Xiiia Deficiency

Genetic Tests for Factor Xiiia Deficiency

Genetic tests related to Factor Xiiia Deficiency:

id Genetic test Affiliating Genes
1 Factor Xiii, a Subunit, Deficiency of 29
2 Factor Xiii Subunit a Deficiency 24 F13A1

Anatomical Context for Factor Xiiia Deficiency

Publications for Factor Xiiia Deficiency

Articles related to Factor Xiiia Deficiency:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Factor Xiiia Deficiency:

71 (show all 17)
id 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 Xiiia Deficiency:

6 (show all 19)
id 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.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs121913065 GRCh37 Chromosome 6, 6266848: 6266848
4 F13A1 NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter) single nucleotide variant Pathogenic rs121913066 GRCh37 Chromosome 6, 6182354: 6182354
5 F13A1 NM_000129.3(F13A1): c.183C> A (p.Asn61Lys) single nucleotide variant Pathogenic rs121913067 GRCh37 Chromosome 6, 6305720: 6305720
6 F13A1 NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg) single nucleotide variant Pathogenic rs121913068 GRCh37 Chromosome 6, 6175056: 6175056
7 F13A1 NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg) single nucleotide variant Pathogenic rs121913069 GRCh37 Chromosome 6, 6174873: 6174873
8 F13A1 NM_000129.3(F13A1): c.1243G> T (p.Val415Phe) single nucleotide variant Pathogenic rs121913070 GRCh37 Chromosome 6, 6196092: 6196092
9 F13A1 NM_000129.3(F13A1): c.103G> T (p.Val35Leu) single nucleotide variant protective rs5985 GRCh37 Chromosome 6, 6318795: 6318795
10 F13A1 NM_000129.3(F13A1): c.980G> A (p.Arg327Gln) single nucleotide variant Pathogenic rs121913072 GRCh37 Chromosome 6, 6222398: 6222398
11 F13A1 NM_000129.3(F13A1): c.949G> T (p.Val317Phe) single nucleotide variant Pathogenic rs121913073 GRCh37 Chromosome 6, 6224943: 6224943
12 F13A1 NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs121913074 GRCh37 Chromosome 6, 6225041: 6225041
13 F13A1 F13A1, 1-BP INS, 1286C insertion Pathogenic
14 F13A1 F13A1, IVS5AS, G-A, -1 single nucleotide variant Pathogenic
15 F13A1 NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp) single nucleotide variant Pathogenic rs267606787 GRCh37 Chromosome 6, 6145941: 6145941
16 F13A1 NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter) single nucleotide variant Pathogenic rs267606789 GRCh37 Chromosome 6, 6152107: 6152107
17 F13A1 NM_000129.3(F13A1): c.728T> C (p.Met243Thr) single nucleotide variant Pathogenic rs267606788 GRCh37 Chromosome 6, 6248615: 6248615
18 F13A1 F13A1, 4-BP DEL, 602AAAG deletion Pathogenic
19 F13A1 NM_000129.3(F13A1): c.-19+12A= single nucleotide variant Pathogenic rs2815822 GRCh37 Chromosome 6, 6320808: 6320808

Expression for Factor Xiiia Deficiency

Search GEO for disease gene expression data for Factor Xiiia Deficiency.

Pathways for Factor Xiiia Deficiency

GO Terms for Factor Xiiia Deficiency

Sources for Factor Xiiia Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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