Disease #05545 (FPLD (lipodystrophy, familial partial (FPLD)))

Official abbreviation	FPLD
Name	lipodystrophy, familial partial (FPLD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	61
Phenotype entries for this disease	61
Associated with 1 gene	PPARG
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-01-04 16:17:36 +01:00 (CET)
Date last edited	N/A

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'

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61 entries on 1 page. Showing entries 1 - 61.

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
00216208	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216209	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216210	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216211	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216212	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	2	Johan den Dunnen
00216213	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	3	Johan den Dunnen
00216214	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	4	Johan den Dunnen
00216215	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	5	Johan den Dunnen
00216216	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	6	Johan den Dunnen
00216217	OFPLD-3–1/3	PubMed: Hegele 2000 2000	5-generation family, 6 affected (4F, 2M)	F;M	-	Canada	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	6	Johan den Dunnen
00216218	NBFPLD-4–2	PubMed: Hegele 2000 2000, OMIM:var0010	family, 2 affected sisters	F	-	Canada	-	-	-	-	-	FPLD	severe	LMNA	LMNA	2	2	Johan den Dunnen
00216219	-	PubMed: Shackleton, PubMed: Shackleton, OMIM:var0010	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216220	-	PubMed: Cao, OMIM:var0010	-	-	-	Canada	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216221	-	PubMed: Shackleton, OMIM:var0012	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216222	-	PubMed: Shackleton	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216223	-	PubMed: Shackleton	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216230	OFPLD-4–1	PubMed: Hegele 2000 2000	family, 1 affected, unaffected parents	F	-	Canada	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216289	Pat1	PubMed: van der Kooi, PubMed: Muchir, OMIM:var0003	-	F	-	Netherlands	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216294	Pat1 / Pat2	PubMed: Morel 2006, OMIM:var0039	sisters	F	-	Canada	Punjabi	-	-	-	-	FPLD	severe	LMNA	LMNA	1	2	Johan den Dunnen
00216296	Pat3	PubMed: van der Kooi, OMIM:var0005	-	F	-	France	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216344	FamH	{PMIDPMID11078466:Vigouroux 2000}, PubMed: Vantyghem 2004	-	-	-	France	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	7	Johan den Dunnen
00216345	FamK	{PMIDPMID11078466:Vigouroux 2000}, PubMed: Vantyghem 2004	-	-	-	France	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	4	Johan den Dunnen
00216349	-	-	-	F	-	Germany	-	>40y	-	-	-	FPLD	cardiac problems	LMNA	LMNA	1	1	Lab Müller-Reible
00216353	-	PubMed: Muchir	-	-	-	-	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216397	-	PubMed: Garg 2002	-	-	-	United States	white	-	-	-	-	FPLD	cardiac problems	LMNA	LMNA	1	1	Johan den Dunnen
00216398	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216399	-	PubMed: Speckman, OMIM:var0015	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216400	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	4	Johan den Dunnen
00216401	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216402	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216403	-	PubMed: Speckman	-	-	-	India	Asian	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216404	-	PubMed: Speckman, OMIM:var0016	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216405	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	5	Johan den Dunnen
00216406	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216407	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216408	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Johan den Dunnen
00216409	-	PubMed: Garg 2002	-	-	-	United States	white	-	-	-	-	FPLD	cardiac problems	LMNA	LMNA	1	8	Johan den Dunnen
00216410	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	2	Johan den Dunnen
00216411	-	PubMed: Speckman	-	-	-	-	European	-	-	-	-	FPLD	-	LMNA	LMNA	1	3	Johan den Dunnen
00216421	-	PubMed: Savage	-	-	-	-	white	-	-	-	-	FPLD	-	LMNA	LMNA	2	1	Johan den Dunnen
00216442	-	PubMed: Savage	-	-	-	-	white	-	-	-	-	FPLD	atypical Kobberling type FPL	LMNA	LMNA	1	3	Johan den Dunnen
00216469	-	Benedetti, ASHG2004, P1356	-	-	-	Italy	-	-	-	-	-	FPLD	hypotonia	LMNA	LMNA	1	1	Johan den Dunnen
00216502	18041775.II1	PubMed: Muschke 2008	sister of 18041775.II2	F	-	Germany	white	-	-	-	-	FPLD	milder, acanthosis nigricans, hyperinsulism	LMNA	LMNA	1	1	Johan den Dunnen
00216503	18041775.II2	PubMed: Muschke 2008	sister of 18041775.II1	F	-	Germany	white	-	-	-	-	FPLD	hyperinsulism, acanthosis nigricans, contractures, broad face, pointed chin, short neck, liver dysfunction	LMNA	LMNA	1	1	Johan den Dunnen
00216530	17250669.A	PubMed: Lanktree 2007	-	F	-	-	Asia, south	>46y	-	-	-	FPLD	see paper	LMNA	LMNA	1	1	Johan den Dunnen
00216531	17250669.B	PubMed: Lanktree 2007	-	F	-	-	European	>50y	-	-	-	FPLD	see paper	LMNA	LMNA	1	1	Johan den Dunnen
00216532	17250669.C	PubMed: Lanktree 2007	-	M	-	-	European	>75y	-	-	-	FPLD	see paper	LMNA	LMNA	1	1	Johan den Dunnen
00216533	-	PubMed: Garg 1999	extended Gujarati family, 16 affecteds	F	-	India	-	>26y	-	-	-	FPLD	see paper	LMNA	LMNA	1	16	Johan den Dunnen
00216540	-	-	3-generation family, 3 affected carriers and 1 asymptomatic peadiatric carrier	F	-	Spain	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	4	David Araujo-Vilar
00216541	-	PubMed: Araujo-Vilar 2008	son of cm-M; 2-generation family, 2 affecteds	F	-	Spain	-	>32y	-	-	-	FPLD	aortic stenosis, hypertrophic cardiomyopathy, polymenorrhea; 32y-fatigue, muscular weakness, generalized aches	LMNA	LMNA	1	1	David Araujo-Vilar
00216542	-	PubMed: Araujo-Vilar 2008	mother of cm-F; 2-generation family, 2 affecteds	M	-	Spain	-	-	-	-	-	FPLD	12y-aortic commissural thickening	LMNA	LMNA	1	1	David Araujo-Vilar
00216622	-	-	-	M	-	United States	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Tom Winder
00216637	-	-	-	-	-	United States	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Tom Winder
00216647	-	-	-	-	-	Canada	white	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Tom Winder
00216690	17711925-R482	PubMed: Decaudain 2007	-	-	-	France	white	-	-	-	-	FPLD	-	LMNA	LMNA	1	3	Johan den Dunnen
00216739	-	-	-	M	-	United States	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	Tom Winder
00216855	-	-	-	F	no	Spain	-	-	-	-	-	FPLD	-	LMNA	LMNA	1	1	David Araujo-Vilar
00451697	-	-	-	F	-	- (not applicable)	white	-	-	-	-	FPLD	HP:0001547, HP:0003275, HP:0001638, HP:0001395, HP:0001397, HP:0003077, HP:0001999, HP:0002813	-	LMNA	1	1	Marketa Wayhelova
00452120	Pat1	PubMed: da Silva 2024	family, several affected (not tested)	F	-	Brazil	-	-	-	-	-	FPLD	see paper; ...	PPARG	PPARG	1	1	Johan den Dunnen
00452121	FamPat2	PubMed: da Silva 2024	family, 2 affected sibs	F	-	Brazil	-	-	-	-	-	FPLD	see paper; ..., dyslipidemia	PPARG	PPARG	1	2	Johan den Dunnen
00452122	FamPat3	PubMed: da Silva 2024	sibs	M	-	Brazil	-	-	-	-	-	FPLD	see paper; ..., dyslipidemia (hypertriglyceridemia, low HDL)	PPARG	PPARG	1	1	Johan den Dunnen

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Global Variome shared LOVD

AQP12B (aquaporin 12B)