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	60
Phenotype entries for this disease	79
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

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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60 entries on 1 page. Showing entries 1 - 60.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
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 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	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
00468571	-	Journal: Dias de Castro 2024	-	F	no	Portugal	-	-	-	-	-	HAE3	Proband presenting with HAE-FXII phenotype	F12	F12	1	1	Christian Drouet
00468572	-	Journal: Dias de Castro 2024	-	-	no	Portugal	-	-	-	-	-	HAE3	Probands presenting with HAE-KNGI phenotype	KNG1	KNG1	1	38	Christian Drouet
00468573	-	Journal: Dias de Castro 2024	-	-	no	Portugal	-	-	-	-	-	HAE3	Probands presenting with HAE-PLG phenotype	PLG	PLG	1	38	Christian Drouet
00469721	-	PubMed: Gao 2025, 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.	F12	F12	1	1	Christian Drouet
00470328	-	Journal: Bulut 2025	-	F	no	Turkey	-	-	-	-	-	HAE3	Proband with recurrent HAE-F12 phenotype including abdominal pain, exacerbated by oetrogen pill intake and pregnancy. Affected mother and maternal uncle.	F12	F12, MEFV	2	3	Christian Drouet
00470714	-	Journal: Bocquet 2025	Probably the 37 affected individuals carrying a NM_000505.3:c.983C>A variant and recorded by Deroux 2016 have been included in this study.	-	-	-	-	-	-	-	-	HAE3	Probands presenting with a HAE-nC1INH phenotype	F12	F12	1	111	Christian Drouet
00472185	-	Journal: Jiang 2025	Single Chinese family, with proband, father, brother, and older daughter as heterozygous carriers, with incomplete penetrance.	F	no	China	-	-	-	-	-	HAE3	Proband presenting with HAE-FXII, including estrogen-sensitive (menstruation associated) facial and laryngeal edema since age 9.	F12	F12	1	4	Christian Drouet
00472186	-	Journal: Jiang 2025	Single Chinese family	F	-	China	-	-	-	-	-	HAE3	Proband presenting with HAE-FXII, as uncommon non-estrogen dependent generalized edema and abdominal pain.	F12	F12	1	1	Christian Drouet

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