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
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| 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' |
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When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
|
Legend |
How to query |
 Individual ID
|
 ID_report
|
Reference
|
Remarks
|
Gender
|
Consanguinity
|
Country
|
Population
|
Age at death
|
VIP
|
Data_av
|
Treatment
|
Disease
|
Phenotype details
|
Variants
|
Panel size
|
Owner
|
| 00294025 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
| 00294026 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
| 00361803 |
- |
Journal: Bork 2020 |
One family with compound heterozygous individuals and 12 affected patients |
- |
- |
Germany |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a HAE with C1-INH deficiency |
1 |
12 |
Christian Drouet |
| 00361804 |
- |
Journal: Bork 2018 Journal: Bork 2023 Journal: Hintze 2023 |
Bork 2018: Thirteen families with 60 affected individuals
Bork 2023: Six German pedigrees have been found to carry a c.988A>G; solitary German carriers (n=6)
Hintze 2023: a German pedigree with 8 affected individuals |
- |
no |
Germany |
- |
- |
- |
- |
- |
HAE4 |
Probands presenting with a HAE-PLG phenotype with frequent macroglossia attacks |
1 |
74 |
Christian Drouet |
| 00361844 |
- |
Journal: Germenis 2018 |
First family with a homozygous proband for a c.988A>G variant and 3 heterozygous carriers, incl one symptomatic female individual |
- |
- |
Greece |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a HAE phenotype |
1 |
4 |
Christian Drouet |
| 00361847 |
- |
Journal: Germenis 2018 |
A single pedigree has been found as carrying a c.988A>G variant; the female proband is a homozygous carrier, 2 heterozygous carriers have been found asymptomatic. |
F |
? |
Greece |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a PLG-HAE phenotype |
1 |
3 |
Christian Drouet |
| 00361882 |
- |
Journal: Parsopoulou 2020 |
A Spanish family with 5 heterozygous carriers of a c.988A>G variant, incl 3/5 symptomatic individuals |
- |
no |
Spain |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a HAE phenotype |
1 |
3 |
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 |
1 |
3 |
Christian Drouet |
| 00361885 |
- |
- |
- |
- |
- |
Australia |
- |
- |
- |
- |
- |
AHUS |
Proband presenting with aHUS |
1 |
1 |
Christian Drouet |
| 00362008 |
Pat11AB |
PubMed: Duvvari 2016 |
patient |
- |
- |
Netherlands |
white |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
| 00383163 |
- |
Journal: Bodian 2019 |
- |
F |
- |
United States |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a nlC-INH-HAE presenting with lips and tongue angioedema, without wheels, and resistant to H1-antihistamines |
1 |
1 |
Christian Drouet |
| 00383164 |
- |
Journal: Recke 2019 |
- |
- |
no |
Germany |
- |
- |
- |
- |
- |
HAE4 |
6 affected individuals among 7 c.988A>G variant carriers within a German family, Proband presenting with nl-C1-INH-HAE and recurrent swellings of tongue and lips, sometimes also larynx, throat and upper airways |
1 |
6 |
Christian Drouet |
| 00383165 |
- |
Journal: Belbezier 2018 |
Three kindreds have been reported as carrying a c.988A>G variant, with 12 affected individuals |
- |
no |
France |
- |
- |
- |
- |
- |
HAE4 |
Probands presenting with a nl-C1-INH-HAE and face/tongue swelling episodes. |
1 |
12 |
Christian Drouet |
| 00385446 |
- |
Journal: Farkas 2021 |
Hungarian pedigree with a single symptomatic carrier of a c.988A>G variant in the PLG gene |
F |
- |
Hungary |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with an angioedema phenotype a the age of 17, then 20 years later, with an iatrogenic angioedema precipitated after intake of ACEi |
1 |
1 |
Christian Drouet |
| 00385447 |
- |
Journal: Yakushiji 2018 |
Two Japanese pedigrees have been found as carrying a c.988A>G variant in the PLG gene
Family 1 (n=2)
Family 2 (n=2) |
- |
- |
Japan |
- |
- |
- |
- |
- |
HAE4 |
Probands presenting with non histamine-mediated angioedema; two female symptomatic carriers are presenting with a recurrent macroglossia. |
1 |
4 |
Christian Drouet |
| 00385448 |
- |
Journal: Germenis 2018 |
- |
F |
- |
Bulgaria |
- |
- |
- |
- |
- |
HAE4 |
A single Bulgarian female patient presenting with a non histamine-dependent angioedema phenotype |
1 |
1 |
Christian Drouet |
| 00403772 |
- |
Journal: Manto 2021 |
10 families, with 14 affected carriers, have been reported as carrying a PLG variant c.988A>G |
- |
- |
Russia |
- |
- |
- |
- |
- |
HAE4 |
A HAE phenotype has been recorded by the authors within 10 families |
1 |
14 |
Christian Drouet |
| 00416000 |
- |
PubMed: Mathey 2022, Journal: Mathey 2022 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
Protection from ACEi angioedema |
1 |
1 |
Christian Drouet |
| 00426343 |
FamPatII1 |
PubMed: Yakushiji 2023, Journal: Yakushiji 2023 |
3-generation family, 5 affected (4 female, 1 male); 3 carriers (1 female, 2 male) are asymptomatic |
F |
no |
Japan |
- |
- |
- |
- |
- |
HAE4 |
see paper; ..., everely swollen
tongue and lips |
1 |
5 |
Christian Drouet |
| 00430274 |
- |
Journal: Lee 2022 |
- |
M |
- |
Korea |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Proband presenting with thromboembolism of bilateral superficial femoral arteries, left common femoral artery and the left lower leg |
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 |
| 00435329 |
Fam1-3 |
Journal: Dewald 2018 |
Three independent pedigrees have been shown as carrying the variant Family 1 (n=9), Family 2 (n=4), Family 3 (n=9) |
F |
- |
Germany |
- |
- |
- |
- |
- |
HAE4 |
Probands presenting with a bradykinin angioedema phenotype |
1 |
22 |
Christian Drouet |
| 00436383 |
- |
Journal: Nakayama 2023 |
Single individual |
F |
no |
Japan |
- |
- |
- |
- |
- |
HAE4 |
Recurrent acute abdomen following low-dose oestrogen-progestin therapy |
1 |
1 |
Christian Drouet |
| 00436400 |
- |
Journal: Katelaris 2023 |
- |
F |
- |
Brazil |
white (Italy) |
- |
- |
- |
- |
HAE4 |
HAE-nC1-INH of the proband possibly triggered after taking ACEi (perindopril), but continues after stopping ACEi |
1 |
2 |
Christian Drouet |
| 00443695 |
- |
Journal: Friedman 2023 |
A US family with a female proband is presenting with macroglossia, a mother with peripheral angioedema and a son died because of airway obstruction |
F |
- |
United States |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with macroglossia, her mother with peripheral angioedema, her son with airway obstruction |
1 |
3 |
Christian Drouet |
| 00448539 |
- |
Journal: Rozevska 2024 |
- |
- |
no |
Latvia |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a HAE-nC1-INH phenotype |
1 |
1 |
Christian Drouet |
| 00449804 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Thrombophilia |
1 |
1 |
Christian Drouet |
| 00449806 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Thrombophilia |
1 |
1 |
Christian Drouet |
| 00449807 |
- |
Journal: Tefs 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Thrombophilia |
1 |
1 |
Christian Drouet |
| 00449809 |
- |
Journal: Tefs 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Thrombophilia; gingiva, larynx and vagina mainly affected |
1 |
1 |
Christian Drouet |
| 00449810 |
- |
Journal: Tefs 2006 |
Five independent families with homozygous affected patients have been shown as carrying a c.112A>G variant. Heterozygous carriers of these 5 families are not affected.
Three independent families with compound heterozygous affected patients have been shown as carrying both c.112A>G and c.1468C>T variants. |
- |
- |
- |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Thrombophilia; conjonctiva, Thrombophilia; conjonctiva, gingiva, ears |
3 |
8 |
Christian Drouet |
| 00450520 |
- |
Journal: Schuster 1997 |
- |
F |
yes |
Turkey |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
A young girl presenting with chronic bilateral ligneous conjunctivitis and occlusive hydrocephalus. |
1 |
1 |
Christian Drouet |
| 00454850 |
- |
Journal: Adatia 2024 |
- |
- |
- |
Canada |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a HAE-nC1INH phenotype |
1 |
2 |
Christian Drouet |
| 00464695 |
- |
PubMed: Schuster 1997 |
Single family with a compound heterozygous affected individual |
M |
- |
Germany |
- |
- |
- |
- |
- |
deficiency, plasminogen, type I |
Ligneous conjunctivitis |
2 |
1 |
Christian Drouet |
| 00464698 |
- |
Journal: Sugimoto 2025 |
Single female individual affected |
F |
no |
Japan |
- |
- |
- |
- |
- |
HAE4 |
Proband presenting with a HAE-PLG phenotype; recurrent acute abdominal pain after starting low-dose estrogen therapy. |
1 |
1 |
Christian Drouet |
| 00464707 |
- |
Journal: Sugimoto 2025 |
A single family with two affected sisters |
F |
no |
Japan |
- |
- |
- |
- |
- |
HAE4 |
Two affected sisters presenting with occasional abdominal pain and vomiting |
1 |
2 |
Christian Drouet |
| 00465619 |
- |
Journal: de Albuquerque Campos 2023 |
- |
F |
no |
Brazil |
- |
- |
- |
- |
- |
HAE4 |
Progressive sagging of the skin on the chest, abdomen and the face, with excessive wrinkling (cutis laxa). Development of facial angioedema after Zika virus infection with associated hives and skin swellings; poor improvement with H1-antihistamines treatment. Hives resolve after treatment with omalizumab but no change in frequency of angioedema. |
1 |
1 |
Christian Drouet |
| 00465622 |
- |
Journal: Purina 2023 |
The first HAE-nC1INH patient from Latvia with identified pathogenic variant in the PLG gene. |
F |
no |
Latvia |
- |
- |
- |
- |
- |
HAE4 |
Rare, irregular mild episodes of swelling in the extremities lasting several days and recurrent abdominal pain. At 30 years of age she had mild episodes of edema during pregnancy and while taking oral contraceptives. No family history. |
1 |
1 |
Christian Drouet |
|
|
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