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Coagulation factor XII

The F12 gene encodes coagulation factor 12. Activated factor 12 is a serin protease that has a function in initiation the coagulation cascade, fibrinolysis, and activation of bradykinin and angiotensin. Mutations cause autosomal domimant, recessive factor XII deficiency and dominant hereditary agioedema type 3 and a dominant systemic autoinflammatory disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary Angioedema 3
F12
Factor XII deficiency
F12
Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
NLRP1
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
WDR1
CARD14 associated psoriasis
Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14
Chronic recurrent multifocal osteomyelitis
Congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis
Majeed syndrome
LPIN2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
F12
Familial cold autoinflammatory syndromes
Familial cold autoinflammatory syndrome 1
NLRP3
Familial cold autoinflammatory syndrome 2
NLRP12
Familial cold autoinflammatory syndrome 3
PLCG2
Familial cold autoinflammatory syndrome 4
NLRC4
Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A
Hereditary pediatric Behçet-like disease
TNFAIP3
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OTULIN
Inflammatory bowel disease
Crohn disease-associated growth failure
IL6
Inflammatory bowel disease 13
ABCB1
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
SEL1L
Interleukin 10 deficiency
Graft-versus-host disease protection
IL10
HIV1 susceptibility
IL10
IL10
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Interleukin 10 receptor deficiency
IL10RA
IL10RB
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
Interleukin-1 receptor antagonist deficiency
IL1RN
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
MVK
Porokeratosis 3
MVK
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
NLRC4
Proteasome-associated autoinflammatory syndrome
PSMA3
Proteasome-associated autoinflammatory syndrome 1
PSMB8
Proteasome-associated autoinflammatory syndrome 2
POMP
Proteasome-associated autoinflammatory syndrome 3
PSMB4
PSMB9
Proteasome-associated autoinflammatory syndrome 4
PSMG2
Pseudo-TORCH-Syndrom
Pseudo-TORCH syndrome 1
OCLN
Pseudo-TORCH syndrome 2
USP18
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
Central giant cell lesion
SH3BP2
Cherubism
SH3BP2
Familial multilocular cystic disease of the jaws
SH3BP2
STING-associated vasculopathy with onset in infancy
TMEM173
Singleton-Merten syndrome
Singleton-Merten syndrome 1
IFIH1
Singleton-Merten syndrome 2
DDX58
Susceptibility to malignant hyperthermia 5
CACNA1S
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Systemic-onset juvenile idiopathic arthritis
IL6
LACC1
MIF
TNF receptor-associated periodic syndrome
TNFRSF1A
Vasculitis due to ADA2 deficiency
ADA2

References:

1.

Binkley KE et al. (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.

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2.

Houlihan LM et al. (2010) Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

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3.

Calafell F et al. (2010) Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

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4.

Maas C et al. (2008) Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation.

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5.

Endler G et al. (2001) Homozygosity for the C-->T polymorphism at nucleotide 46 in the 5' untranslated region of the factor XII gene protects from development of acute coronary syndrome.

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6.

Kondo S et al. (1999) Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation.

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7.

Kanaji T et al. (1998) A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level.

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8.

Schloesser M et al. (1995) The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.

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9.

Hovinga JK et al. (1994) Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site.

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10.

Kawashima H et al. (1981) Normal Hageman factor level in 7q deletion syndrome.

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11.

De Grouchy J et al. (1968) A case of?6p- chromosomal aberration.

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12.

de Grouchy J et al. (1974) Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.

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13.

Citarella F et al. (1988) Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.

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14.

Bernardi F et al. (1988) A frequent factor XII gene mutation in Hageman trait.

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15.

Miyata T et al. (1989) Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution.

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16.

Hofman ZLM et al. (2020) A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.

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17.

Dewald G et al. (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

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18.

Cichon S et al. (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

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19.

Duan QL et al. (2009) Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.

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20.

Bernardi F et al. (1987) Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

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21.

Royle NJ et al. (1988) Structural gene encoding human factor XII is located at 5q33-qter.

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22.

Josso F et al. (1968) [Probable localisation of a Hageman (factor XII) locus on an autosome].

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23.

None (2003) Oscar Ratnoff: his contributions to the golden era of coagulation research.

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24.

None (1964) AN ENZYME CASCADE IN THE BLOOD CLOTTING MECHANISM, AND ITS FUNCTION AS A BIOCHEMICAL AMPLIFIER.

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25.

Renné T et al. (2005) Defective thrombus formation in mice lacking coagulation factor XII.

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26.

Biederman B et al. (1978) Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

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27.

None (1978) Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level.

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28.

Cool DE et al. (1987) Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region.

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29.

Orphanet article

Orphanet ID 121663 external link
30.

NCBI article

NCBI 2161 external link
31.

OMIM.ORG article

Omim 610619 external link
32.

Wikipedia article

Wikipedia EN (Factor_XII) external link
Update: Aug. 14, 2020
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