Disease #02963 (HAE3 (angioedema, hereditary, type 3), OMIM:610618)

Official abbreviation HAE3
Name angioedema, hereditary, type 3
OMIM ID 610618
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 52
Phenotype entries for this disease 70
Associated with 1 gene F12
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-04-09 18:11:52 +02:00 (CEST)


Individuals

52 entries on 1 page. Showing entries 1 - 52.
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00165329 16638441-Pat? PubMed: Dewald 2006 - - - - - - - - - HAE3 - F12 F13A1 1 1 Johan den Dunnen
00165330 16638441-Pat? PubMed: Dewald 2006 - - - - - - - - - HAE3 - F12 F13A1 1 1 Johan den Dunnen
00359618 - Journal: Loules 2020 - F - Hungary - - - - - HAE3 Proband presenting with a HAE with normal C1 inhibitor and non identified type SERPING1 BDKRB1, CPN1, MASP1, MPO, PLAUR, SERPING1, TLR4 7 2 Christian Drouet
00361884 - Journal: Loules 2020 - M no Greece - - - - - HAE3 Proband and his son presenting with a HAE phenotype, but not his daughter also carrying a c.2183T>A variant PLG PLG 1 3 Christian Drouet
00362248 - - - F no France - - - - - HAE3 Probands presenting with angioedema (normal C1 Inhibitor) associated with chronic urticaria ACE ACE 1 2 Christian Drouet
00382956 - - - F no France - - - - - HAE3 Proband in a family with carboxypeptidase N deficiency and presenting with urticaria and angioedema CPN1 CPN1 1 1 Christian Drouet
00383166 - Journal: Bafunno 2018 - F no Italy - - - - - HAE3 Proband presenting with a nlC1-INH-HAE phenotype, i.e. recurrent angioedema resistant to H1-antihistamines and corticosteroids for acute attacks and prophylaxis. ANGPT1 ANGPT1 1 4 Christian Drouet
00385449 patient PubMed: Veronez 2021, Journal: Veronez 2021 pedigree with heterozygous carriers, incomplete penetrance: 5/8 carriers have been found clinically affected - - Brazil - - - - - HAE3 Female proband is presenting with recurrent angioedema of the face, lips, limbs, genitalia, uper airways, and with abdomen pain ANGPT1 ANGPT1 1 5 Christian Drouet
00385450 - PubMed: Veronez 2021, Journal: Veronez 2021 A single affected individual has been found as carrying a c.1151G>A in the PLG gene F - Brazil - - - - - HAE3 Proband presenting with a HAE-U phenotype ANGPT1 ANGPT1 1 1 Christian Drouet
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 F12 F12 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 F12 F12 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 F12 F12 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 F12 F12 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 F12 F12 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 F12 F12 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 F12 F12 1 8 Christian Drouet
00385696 - Journal: Dewald 2006 - F no Germany - - - - - HAE3 Proband presenting with a HAE-F12 phenotype F12 F12 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 - F12 F12 1 19 Christian Drouet
00385743 - - Single family F no Australia - - - - - HAE3 Proband presenting with a HAE-F12 phenotype F12 F12 1 1 Christian Drouet
00385744 - - Single family F no Spain - - - - - HAE3 Female proband presenting with a HAE-F12 phenotype F12 F12 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 F12 F12 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 F12 F12 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 F12 F12 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. F12 F12 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 F12 F12 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 F12 F12 1 15 Christian Drouet
00386369 - Journal: Gelincik 2014 Single family F no Turkey - - - - - HAE3 A female individual presenting with a HAE-FXII phenotype F12 F12 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 F12 F12 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 F12 F12 1 29 Christian Drouet
00386373 - Journal: Bork 2011 Single family F no Turkey - - - - - HAE3 Female proband presenting with a HAE-FXII phenotype F12 F12 1 3 Christian Drouet
00386374 - Journal: Baeza 2011 Single family F no Morocco - - - - - HAE3 Female proband presenting with a HAE-FXII phenotype F12 F12 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 F12 F12 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 F12 F12 1 3 Christian Drouet
00386389 - Journal: Veronez 2019 Single family F no Spain - - - - - HAE3 Female proband presenting with a HAE-FXII phenotype F12 F12 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 F12 F12 1 37 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 F12 F12 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 F12 F12 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 F12 F12 1 4 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 F12 F12 1 10 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 F12 F12 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 F12 F12 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 F12 F12 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 F12 F12 1 12 Christian Drouet
00443870 - Journal: Bork 2017 One family with 4 affected individuals - no Germany - - - - - HAE3 Proband presenting with a HAE-F12 phenotype F12 F12 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 F12 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 F12 F12 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 F12 F12 1 38 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. F12 F12 1 2 Christian Drouet
00464530 - Journal: Lekhlit 2025 Single individual F no Morocco - - - - - HAE3 An affected female individual with symptoms triggered by pregnancy F12 F12 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 F12 F12 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. F12 F12 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 F12 F12 1 1 Christian Drouet
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