Disease #01834 (F12D (deficiency, factor XII), OMIM:234000)

Official abbreviation	F12D
Name	deficiency, factor XII
OMIM ID	234000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	54
Phenotype entries for this disease	54
Associated with 1 gene	F12
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2023-02-10 09:37:05 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
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
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

54 entries on 1 page. Showing entries 1 - 54.

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
00165323	10361128-Pat?	PubMed: Kondo 1999	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165324	11776307-Pat?	PubMed: Kanaji 2001	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165325	11776307-Pat?	PubMed: Kanaji 2001	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165326	12876626-Pat?	PubMed: Wada 2003	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165327	15617741-Pat?	PubMed: Oguchi 2005	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165331	18024408-Pat?	PubMed: Mordillo 2007	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165332	18710647-Pat?	PubMed: Feng 2008	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165333	18832903-Pat?	PubMed: Lombardi 2008	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165334	18832903-Pat?	PubMed: Lombardi 2008	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165335	18832903-Pat?	PubMed: Lombardi 2008	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165336	20022356-Pat?	PubMed: Suzuki 2010	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165337	20386432-Pat?	PubMed: Kwon 2010	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165338	20386432-Pat?	PubMed: Kwon 2010	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165339	20386432-Pat?	PubMed: Kwon 2010	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165340	20386432-Pat?	PubMed: Kwon 2010	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165341	20729721-Pat?	PubMed: Kim 2010	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165342	21192253-Pat?	PubMed: Ye 2011	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165343	21264442-Pat?	PubMed: Iijima 2011	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165344	21264442-Pat?	PubMed: Iijima 2011	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165347	21297451-Pat?	PubMed: Matsuki 2011	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165348	2510163-Pat?	PubMed: Miyata 1989	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165349	8049433-Pat?	PubMed: Hovinga 1994	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165350	8528215-Pat?	PubMed: Schloesser 1995	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165353	9354665-Pat?	PubMed: Schloesser 1997	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165354	9354665-Pat?	PubMed: Schloesser 1997	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165355	9354665-Pat?	PubMed: Schloesser 1997	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165356	9354665-Pat?	PubMed: Schloesser 1997	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165357	9354665-Pat?	PubMed: Schloesser 1997	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00165358	9354665-Pat?	PubMed: Schloesser 1997	-	-	-	-	-	-	-	-	-	F12D	-	F12	F13A1	1	1	Johan den Dunnen
00386542	-	-	A single German pedigree, with 5 affected carriers	-	no	Germany	-	-	-	-	-	F12D	Thrombotic complications and heart infarction	F12	F12	1	5	Christian Drouet
00387933	-	Journal: Matsukuma 2011	Original single family with a male proband	M	no	Japan	-	-	-	-	-	F12D	-	F12	F12	2	1	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	F12	F12	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	F12	F12	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.	F12	F12	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	F12	F12	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	F12	F12	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	F12	F12	1	1	Christian Drouet
00430292	-	Journal: Demidova 2023	-	-	-	Russia	-	-	-	-	-	F12D	Proband presenting with mild haemorrhagic manifestations	F12	F12	1	1	Christian Drouet
00430293	-	Journal: Demidova 2023	-	-	-	Russia	-	-	-	-	-	F12D	Proband presenting with mild haemorrhagic manifestations	F12	F12	1	1	Christian Drouet
00430294	-	Journal: Demidova 2023	-	-	-	Russia	-	-	-	-	-	F12D	Proband presenting with haemorrhagic manifestations	F12	F12	1	1	Christian Drouet
00430299	-	Journal: Demidova 2023	-	M	-	Russia	-	-	-	-	-	F12D	Homozygous proband presenting with haemorrhage complications	F12	F12	1	1	Christian Drouet
00430302	-	Journal: Demidova 2023	-	F	-	Russia	-	-	-	-	-	F12D	Homozygous proband presenting with haemorrhage complications	F12	F12	1	1	Christian Drouet
00431294	-	Journal: Liu 2020	-	M	yes	China	-	-	-	-	-	F12D	Homozygous proband presenting with a prolonged aPTT	F12	F12	1	1	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).	F12	F12	1	6	Christian Drouet
00436490	-	Journal: Wong 2010	-	F	-	Korea	-	-	-	-	-	F12D	A compound heterozygote proband presenting with a prolonged aPPT; congenital heart anomaly	F12	F12	2	1	Christian Drouet
00436491	-	Journal: Wong 2010	-	M	-	Korea	-	-	-	-	-	F12D	A homozygous proband presenting with a prolonged aPTT; anal fistula	F12	F12	1	1	Christian Drouet
00436492	-	Journal: Wong 2010	-	F	-	Korea	-	-	-	-	-	F12D	A compound heterozygous proband presenting with a prolonged aPTT; pituitary macroadenoma	F12	F12	1	1	Christian Drouet
00443560	-	Journal: Cheng 2023	-	-	-	China	-	-	-	-	-	F12D	Proband presenting with a prolonged aPTT	F12	F12	2	1	Christian Drouet
00444382	-	Journal: Han 2015	-	M	no	China	-	-	-	-	-	F12D	Proband presenting with a prolonged aPTT	F12	F12	1	1	Christian Drouet
00444383	-	Journal: Han 2015	-	M	no	China	-	-	-	-	-	F12D	Proband presenting with a prolonged aPTT	F12	F12	1	1	Christian Drouet
00444384	-	Journal: Han 2015	-	F	no	China	-	-	-	-	-	F12D	Proband presenting with a prolonged aPTT	F12	F12	1	1	Christian Drouet
00444386	-	Journal: Kwon 2010	-	-	no	Korea	-	-	-	-	-	F12D	Proband presenting with a prolonged aPTT	F12	F12	1	1	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	F12	F12	1	1	Christian Drouet
00462235	-	Journal: Myiata 1989	-	-	-	United States	-	-	-	-	-	F12D	Proband presenting with Hageman trait and prolonged aPTT	F12	F12	1	1	Christian Drouet

Legend

How to query

Global Variome shared LOVD

FASTK (Fas-activated serine/threonine kinase)