All individuals with variants in gene F12

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00025011 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands white - - - - CVI, ID see paper; ... 1 1 Danielle Bosch
00240473 FamPatIII1 PubMed: Charignon 2018, Journal: Charignon 2018 2-generation family, 2 affected (2F) F no France - - - - - HAE1;HAE2 Proband and her daughter presenting with a HAE type I phenotype, severe disease 1 3 Christian Drouet
00293823 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00308707 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00385646 - Journal: Veronez 2018 Journal: Veronez 2021 Journal: Gabriel 2025 Numerous Brazilian pedigrees have been recorded as carrying a c.1032C>A variant, with 94 families and 176 heterozygous carriers. Incomplete penetrance demonstrated in a family where 9/19 symptomatic individuals have been recorded. The course of pregnancies in women diagnosed with HAE-nC1-INH has been described for 7 carriers of a F12 variant. - no Brazil - - - - - HAE3 Probands presenting with a HAE-F12 phenotype 2 176 Christian Drouet
00385647 - Journal: Grumach 2016 Two Brazilian families are presenting with homozygous carriers of a c.983C>A variant, one male and one female - - Brazil - - - - - HAE3 Probands presenting with a HAE-F12 phenotype 1 14 Christian Drouet
00385689 - Journal: Bork 2011 Journal: Bork 2014 Journal: Veronez 2018 Four independent kindreds have been found as carrying a c.971_1018+24del variant Families 1 and 2, Germany, Turkish origin, with 4 affected female individuals Family 3, Brazil (male individual; history of ACEi intake) Family 4, Brazil (n=2) - no Turkey - - - - - HAE3 Probands presenting with a HAE-F12 phenotype, with incomplete penetrance 1 7 Christian Drouet
00385691 - - A c.1768T>G;p.(Cys590Gly) variant has been found in a single nC1-INH-HAE German patient - - Germany - - - - - HAE3 Proband presenting with recurrent angioedema of unclear origin 1 1 Christian Drouet
00385692 - - Nine independent Italian kindreds have been shown as carrying a c.983C>A variant, with 23/43 affected individuals, 32 females and 11 males - - Italy - - - - - HAE3 Probands presenting with a HAE-F12 phenotype 1 23 Christian Drouet
00385693 - Journal: Kiss 2013 A Hungarian pedigree with 5 affected individuals, 3 female and 2 male F no Hungary - - - - - HAE3 Female proband presenting with a HAE-F12 phenotype 2 5 Christian Drouet
00385695 - Journal: Cichon 2006 Journal: Björkvist 2015 Journal: de Maat 2016 A French pedigree with 8 affected individuals within 13 carriers of a c.983C>A variant - - France - - - - - HAE3 Proband presenting with a HAE-F12 phenotype 1 8 Christian Drouet
00385696 - Journal: Dewald 2006 - F no Germany - - - - - HAE3 Proband presenting with a HAE-F12 phenotype 1 2 Christian Drouet
00385697 - Journal: Dewald 2006 Four independent German kindreds have been found as carrying a c.983C>A variant Family 1, n=2 Family 2, n=5 Family 3, n=6 Family 4, n=6 F no Germany - - - - - HAE3 - 1 19 Christian Drouet
00385743 - - Single family F no Australia - - - - - HAE3 Proband presenting with a HAE-F12 phenotype 1 1 Christian Drouet
00385744 - - Single family F no Spain - - - - - HAE3 Female proband presenting with a HAE-F12 phenotype 1 3 Christian Drouet
00385745 - - A single Canadian family with 6 symptomatic carriers of a c.983C>A variant F no Canada - - - - - HAE3 Female proband presenting with a HAE-F12 phenotype 1 6 Christian Drouet
00385746 - Journal: Bork 2009 Additional 10 German pedigrees shown as carrying a c.983C>A variant Female individuals are affected F no Germany - - - - - HAE3 Probands presenting with a HAE-F12 phenotype 1 45 Christian Drouet
00385765 - - A French pedigree with affected man (n=1) and women (n=2) Incomplete penetrance: 3/7 are affected - no France - - - - - HAE3 Proband presenting with a HAE-F12 phenotype 1 3 Christian Drouet
00386104 - Journal: Piñero-Saavedra 2016 Prospective Spanish cohort study with 9 families and 24 symptomatic individuals - no Spain - - - - - HAE3 Female probands presenting with oestrogen-dependent and oestrogen-sensitive HAE-FXII phenotype. 72% of male carriers of the c.983C>A variant have been found asymptomatic. 1 24 Christian Drouet
00386105 - Journal: Moreno 2015 Four Brazilian kindreds have been reported as carrying a c.983C>A variant, with 8/16 affected individuals - no Brazil - - - - - HAE3 Female probands presenting with a HAE-FXII phenotype 1 8 Christian Drouet
00386368 - Journal: Firinu 2015 Four Sardininan independent kindreds have been found as carrying a c.983C>A variant F no Italy Sardinian - - - - HAE3 Female probands all presenting with a HAE-FXII phenotype 1 15 Christian Drouet
00386369 - Journal: Gelincik 2014 Single family F no Turkey - - - - - HAE3 A female individual presenting with a HAE-FXII phenotype 1 1 Christian Drouet
00386370 - Journal: Iijima 2011 Symptomatic carrier with a defective prekallikrein cleavage activity M - Japan - - - - - Healthy/Control No clinical phenotype of the carrier and his father 1 1 Christian Drouet
00386371 - Journal: Gelincik 2014 Original single family with a male proband M no Turkey - - - - - HAE3 Male proband presenting with a HAE-FXII phenotype 1 1 Christian Drouet
00386372 - Journal: Marcos 2012 Thirteen kindreds from North-West Spain, with 29 affected individuals - no Spain - - - - - HAE3 Probands presenting with a HAE-FXII phenotype 1 29 Christian Drouet
00386373 - Journal: Bork 2011 Single family F no Turkey - - - - - HAE3 Female proband presenting with a HAE-FXII phenotype 1 3 Christian Drouet
00386374 - Journal: Baeza 2011 Single family F no Morocco - - - - - HAE3 Female proband presenting with a HAE-FXII phenotype 1 3 Christian Drouet
00386375 - Journal: Picone 2010 Symptoms and obstetrical complications of women in two families with HAE attributable to the c.983C>A variant in the F12 gene. Family 1, n=2 Family 2, n=3 F - France - - - - - HAE3 Female probands presenting a HAE-FXII phenotype with severe obstetrical complications 1 5 Christian Drouet
00386376 - Journal: Nagy 2009 The first British pedigree ever shown as carrying a c.983C>A variant, with 3 affected female individuals F - United Kingdom (Great Britain) - - - - - HAE3 Female proband presening with a HAE-FXII phenotype 1 3 Christian Drouet
00386383 - Journal: Hofman 2020 Journal: Scheffel 2020 A German family (n=4) presenting with urticarial and autoinflammatory syndrome M - Germany - - - - - FCAS1 Autoinflammatory syndrome characterized by cold-inducible urticaria, arthralgia, fever,and fatigue 1 4 Christian Drouet
00386389 - Journal: Veronez 2019 Single family F no Spain - - - - - HAE3 Female proband presenting with a HAE-FXII phenotype 1 2 Christian Drouet
00386487 - Journal: Deroux 2016 24 French pedigrees have been shown as carrying a c.983C>A variant - no France - - - - - HAE3 Probands presenting with a HAE-FXII phenotype 1 37 Christian Drouet
00386542 - - A single German pedigree, with 5 affected carriers - no Germany - - - - - F12D Thrombotic complications and heart infarction 1 5 Christian Drouet
00387933 - Journal: Matsukuma 2011 Original single family with a male proband M no Japan - - - - - F12D - 2 1 Christian Drouet
00388296 - Journal: Vatsiou 2018 Two independent Spanish families with 3 affected female individuals F no Spain - - - - - HAE3 Proband presenting with 5 to 6 angioedema attacks per month located in the face 1 3 Christian Drouet
00412442 - PubMed: Corvillo 2020, Journal: Corvillo 2020 analysis disease expression in 39 Spanish HAE-FXII female index patients carrying the c.1032C>A (Thr328Lys) variant within F12 gene F - Spain - - - - - HAE3 Hereditary angioedema; Disease modifier in patients with hereditary angioedema due to the FXII p.(Thr328Lys) variant 1 39 Christian Drouet
00417698 Fam2 Journal: Mendoza-Alvarez 2022 3-generation family, 4 affected, father/3 daughters F;M no Spain - - - - - HAE3 Proband presenting with a nlC1-INH-HAE phenotype 1 4 Christian Drouet
00427687 FamII-CL PubMed: Chou 2022, Journal: Chou 2022 2-generation family, 1 affected, unaffected heterozygous carrier in the children F no Taiwan - - - - - F12D Prolonged aPTT, persistently undetectable FXII function and normal PT: detected for tooth extractions, laparoscopic cholecystectomy, breast tumor excision, extracorporeal shockwave lithotomy 1 1 Christian Drouet
00427688 FamV-WT Journal: Chou 2022 2-generation family, 1 affected, unaffected children M no Taiwan - - - - - F12D Proband without any bleeding disorder; prolonged aPTT detected in a patient with a prostatectomy 2 1 Christian Drouet
00427689 patient PubMed: Jiang 2022, Journal: Jiang 2022 2-generation family, 1 affected, unaffected parents F - China - - - - - F12D Proband presenting with thrombus in the inferior vena cava and common iliac as shown by lower limb venography. 1 1 Christian Drouet
00427690 FamI-CT PubMed: Chou 2022, Journal: Chou 2022 2-generation family, 1 affected, unaffected heterozygous carriers in the family F no Taiwan - - - - - F12D Proband without any bleeding disorder; prolonged aPTT discovered in a patient for a liver biopsy 2 1 Christian Drouet
00427779 FamIII-SY PubMed: Chou 2022, Journal: Chou 2022 2-generation family, 1 affected, unaffected heterozygous carriers in the children F no Taiwan - - - - - F12D Prolonged aPTT, persistently undetectable FXII function, normal PT: detected for tooth extractions, laparoscopic cholecystectomy, breast tumor excision, extracorporeal shockwave lithotomy 1 1 Christian Drouet
00427780 FamIV-CC PubMed: Chou 2022, Journal: Chou 2022 2-generation family, 1 affected, unaffected heterozygous carriers in the children M - Taiwan - - - - - F12D Prolonged aPTT, persistently undetectable FXII function and normal PT: tooth extractions, laparoscopic cholecystectomy, breast tumor excision, extracorporeal shockwave lithotomy 1 1 Christian Drouet
00430292 - Journal: Demidova 2023 - - - Russia - - - - - F12D Proband presenting with mild haemorrhagic manifestations 1 1 Christian Drouet
00430293 - Journal: Demidova 2023 - - - Russia - - - - - F12D Proband presenting with mild haemorrhagic manifestations 1 1 Christian Drouet
00430294 - Journal: Demidova 2023 - - - Russia - - - - - F12D Proband presenting with haemorrhagic manifestations 1 1 Christian Drouet
00430299 - Journal: Demidova 2023 - M - Russia - - - - - F12D Homozygous proband presenting with haemorrhage complications 1 1 Christian Drouet
00430302 - Journal: Demidova 2023 - F - Russia - - - - - F12D Homozygous proband presenting with haemorrhage complications 1 1 Christian Drouet
00431294 - Journal: Liu 2020 - M yes China - - - - - F12D Homozygous proband presenting with a prolonged aPTT 1 1 Christian Drouet
00433192 - Journal: Hintze 2023 A female proband carrying both variants PLG c.988A>G;p.(lys330Glu) and F12 c.1681-1G>A; 6 compound heterozygous affected individuals, 2 heterozygous affected individuals carrying a PLG variant F - Germany - - - - - HAE4 Proband presenting with a bradykinin-dependent HAE phenotype 1 8 Christian Drouet
00436386 - Journal: Bork 2023 Ten independent families: 10 isolated HAE-nC1-INH individuals carrying a c.983C>A variant in F12 gene - no Germany - - - - - HAE3 Chronic recurrent angioedema without wheals with normal C1 inhibitor (C1-INH) that is unresponsive to H1-antihistamines 1 10 Christian Drouet
00436424 - Journal: Ji 2023 A Chinese pedigree with a homozygous male proband presenting with a congentital Factor XII deficiency M yes China - - - - - F12D Homozygous proband presenting with significantly prolonged activated partial thromboplastin time (APTT), an extremely reduced FXII activity (FXII:C) and antigenic FXII (FXII:Ag). 1 6 Christian Drouet
00436490 - Journal: Wong 2010 - F - Korea - - - - - F12D A compound heterozygote proband presenting with a prolonged aPPT; congenital heart anomaly 2 1 Christian Drouet
00436491 - Journal: Wong 2010 - M - Korea - - - - - F12D A homozygous proband presenting with a prolonged aPTT; anal fistula 1 1 Christian Drouet
00436492 - Journal: Wong 2010 - F - Korea - - - - - F12D A compound heterozygous proband presenting with a prolonged aPTT; pituitary macroadenoma 1 1 Christian Drouet
00443560 - Journal: Cheng 2023 - - - China - - - - - F12D Proband presenting with a prolonged aPTT 2 1 Christian Drouet
00443866 - Journal: Hentges 2009 Single family with a single female affected individual F no Luxembourg - - - - - HAE3 Proband as single affected individual and presenting with HAE-F12 phenotype 1 1 Christian Drouet
00443867 - Journal: Gomez-Traseira 2010 Single family: Five affected individuals within 11 carriers F no Spain - - - - - HAE3 Female proband presenting with a HAE-F12 phenotype 1 5 Christian Drouet
00443868 - Journal: Mansi 2015 Three independent families, 3 affected individuals, presenting with a HAE-F12 phenotype - no Italy - - - - - HAE3 Female probands presenting with a HAE-F12 phenotype 1 3 Christian Drouet
00443869 - Journal: Stieber 2015 First report of a Brazilian family and of 12 affected individuals presenting with a HAE-F12 phenotype - no Brazil - - - - - HAE3 Proband presenting with a HAE-F12 phenotype 1 12 Christian Drouet
00443870 - Journal: Bork 2017 One family with 4 affected individuals - no Germany - - - - - HAE3 Proband presenting with a HAE-F12 phenotype 1 4 Christian Drouet
00444160 - Journal: Lochbaum 2023 Clinical presentation: abdominal edema and edema of the limbs under estrogen intake F no Germany - - - - - HAE3 A female individual presenting with a HAE-F12 1 1 Christian Drouet
00444161 - Journal: Lochbaum 2023 Single family with a single affected female individual presenting with recurrent edema of the limbs, lips, face, abdomen, lasting approx. five days F no Germany - - - - - HAE3 A female individual presenting with a HAE-F12 phenotype 1 1 Christian Drouet
00444382 - Journal: Han 2015 - M no China - - - - - F12D Proband presenting with a prolonged aPTT 1 1 Christian Drouet
00444383 - Journal: Han 2015 - M no China - - - - - F12D Proband presenting with a prolonged aPTT 1 1 Christian Drouet
00444384 - Journal: Han 2015 - F no China - - - - - F12D Proband presenting with a prolonged aPTT 1 1 Christian Drouet
00444386 - Journal: Kwon 2010 - - no Korea - - - - - F12D Proband presenting with a prolonged aPTT 1 1 Christian Drouet
00448052 - Journal: Dias de Castro 2024 A population of 38 individuals has been shown as carrying a c.983C>A variant, with 26 female and 2 male affected individuals; 11 adult carriers have been found asymptomatic. - no Portugal - - - - - HAE3 Probands presenting with HAE-FXII phenotype 1 38 Christian Drouet
00452064 - PubMed: Wada 2003 Journal: Aljabry 2024 Two independent families have been shown as carrying a c.1515G>C variant in the F12 gene Family 1, Saudi Arabia Family 2, Japan F yes Saudi Arabia - - - - - F12D Proband presenting with a significantly prolonged aPTT; no history of bleeding episodes during the previous deliveries nor any tooth extractions 1 1 Christian Drouet
00458259 - Journal: Saddouk 2024 Case report of HAE-FXII diagnosed during pregnancy with details on the management of recurring attacks in a resource-limited setting with no C1-INH concentrate availability. F no Morocco - - - - - HAE3 Proband presenting with HAE-FXII phenotype: severe abdominal pain, intermittent edema in her hands, feet, and eyelids. The symptoms were unresponsive to antihistamines and corticosteroids. 1 2 Christian Drouet
00462235 - Journal: Myiata 1989 - - - United States - - - - - F12D Proband presenting with Hageman trait and prolonged aPTT 1 1 Christian Drouet
00464530 - Journal: Lekhlit 2025 Single individual F no Morocco - - - - - HAE3 An affected female individual with symptoms triggered by pregnancy 1 1 Christian Drouet
00465588 - Journal: Veronez 2019 Single family F no Brazil - - - - - HAE3 Proband presenting with angioedema attacks since 16 years of age and pancreatitis 1 1 Christian Drouet
00465621 - Journal: Contreras-Verduzco 2023 First description of a Mexican HAE-FXII family. F no Mexico - - - - - HAE3 Proband presenting with a HAE-FXII phenotype, including laryngeal edema. The attacks increase after the placement of a contraceptive subdermal implant. One male carrier is asymptomatic. 1 12 Christian Drouet
00466426 - Journal: García Robledo 2025 A single pregnant female individual suffering from HAE during labor induction F no Spain - - - - - HAE3 HAE phenotype during labor induction 1 1 Christian Drouet
00467549 - Journal: Ye 2023 - M no China - - - - - F12D Proband presenting with a significantly prolonged APTT (180.0 s) and a decreased FⅫ:C and FⅫ:Ag levels (<1%) 2 6 Christian Drouet
00467555 - PubMed: Hovinga 1994 Dysfunctional coagulation factor XII (FXII) Locarno has been found in a Swiss family - no Switzerland - - - - - F12D Proband presenting with a prolonged aPTT 1 1 Christian Drouet
00468571 - Journal: Dias de Castro 2024 - F no Portugal - - - - - HAE3 Proband presenting with HAE-FXII phenotype 1 1 Christian Drouet
00469721 - Journal: Gao 2025 Single female individual in a Chinese family F no China - - - - - HAE3 HAE-nC1INH with recurrent swelling of the face, trunk, and extremities, with no identifiable trigger, worsening over time, occasionally accompanied by itching and wheals, not resolved by several months of oral antihistamines and diuretics. Prophylaxis with lanadelumab with no recurrence of symptoms. 1 1 Christian Drouet
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