All individuals with variants in gene F12

75 entries on 1 page. Showing entries 1 - 75.
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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 probands, presumably 38 families, has been shown as carrying a c.953C>A variant - 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
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