Disease #00239 (MFS (Marfan syndrome (MFS)), OMIM:154700)

Official abbreviation	MFS
Name	Marfan syndrome (MFS)
OMIM ID	154700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	364
Phenotype entries for this disease	351
Associated with 1 gene	FBN1
Associated tissues	-
Disease features	autosomal dominant
Remarks	-
Date created	2013-10-09 21:34:54 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +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.

364 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

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
00004042	-	-	-	M	no	-	russian	>01y	-	-	-	MFS	-	FBN1, TGFBR1, TGFBR2	FBN1	1	1	Yulia Rogozhina
00035753	-	-	-	-	-	Germany	-	-	-	-	-	MFS	Marfan syndrome	FBN1	FBN1	1	1	Andreas Laner
00035757	-	-	-	-	-	Germany	-	-	-	-	-	MFS	Marfan syndrome	FBN1	FBN1	1	1	Andreas Laner
00035765	-	-	-	-	-	Germany	-	-	-	-	-	MFS	Marfan syndrome, familial	FBN1	FBN1	1	1	Andreas Laner
00035785	-	-	-	-	-	Germany	-	-	-	-	-	MFS	Marfan syndrome	FBN1	FBN1	1	1	Andreas Laner
00035790	-	-	-	-	-	Germany	-	-	-	-	-	MFS	Marfan syndrome, familial	FBN1	FBN1	1	1	Andreas Laner
00053061	-	-	-	M	-	Iran	Iranian	-	-	-	-	MFS	Marfan syndrome, ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height	FBN1	FBN1	1	1	Ramona Haji-Seyed-Javadi
00053063	-	-	-	F	-	Sweden	-	>41y	-	-	-	MFS	Marfan syndrome	FBN1	FBN1	1	1	Kristina Lagerstedt Robinson
00053064	-	-	-	M	-	Finland	-	>41y	-	-	-	MFS	Marfan sydnrome,aortic dissection, dural ectasia	FBN1	FBN1	1	1	Kristina Lagerstedt Robinson
00053065	-	-	-	M	-	Jordan	-	>37y	-	-	-	MFS	Marfan syndrome,tall stature, aortic dissection, long narrow feet	FBN1	FBN1	1	1	Kristina Lagerstedt Robinson
00053066	-	-	-	M	-	Sweden	-	>9y	-	-	-	MFS	Marfan syndrome	FBN1	FBN1	1	1	Kristina Lagerstedt Robinson
00053067	-	-	-	M	no	-	-	-	-	-	-	MFS	Marfan syndrome	FBN1	FBN1	1	1	Paul Coucke
00081038	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	MFS	Marfan syndrome (OMIM:154700)	FBN1	FBN1	1	1	Daniel Trujillano
00100212	-	-	-	-	-	Germany	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00152020	-	-	-	-	-	-	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00207904	-	-	-	-	-	-	-	-	-	-	-	MFS	-	FBN1, TGFB1, TGFB2	FBN1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00229824	Individual 1	-	-	M	no	Italy	-	27y	-	-	-	MFS	Dilatation of the aortic root and ascending aorta, minimal insufficiency of the aortic valve, prolapse of the anterior mitral leaflet, mild insufficiency of the tricuspid valve, progressive scoliosis, spontaneous pneumothorax, mild myopia (-2 diopters on the right and -1.5 diopters on the left), bilateral positive wrist sign, bilateral negative thumb sign, apparent enophthalmos, downslanting palpebral fissures, malar hypoplasia, high-arched palate, severe scoliosis, pectus carinatum, bilateral valgus deformity of the elbow, bilateral metatarsus varus, some mildly atrophic post-surgical scars of the thorax, and striae rubrae of the back.	FBN1	FBN1	1	1	Carmela Fusco
00240045	-	-	-	M	-	Iran	Iranian	-	-	-	-	MFS	ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height	LTBP2	LTBP2	1	1	Ramona Haji-Seyed-Javadi
00248176	-	-	-	M	-	Russia	-	>33y	-	-	-	MFS	Myopia, Dental crowding, Pectus excavatum, Joint hypermobility, Arachnodactyly, Tall stature	-	FBN1	1	1	Valeriia Apukhtina
00265941	Family 3	PubMed: Caylor 2018	index suspected of having Marfan syndrome; has family history of several maternal relatives with tall stature; history of epilepsy in maternal grandfather; both parents tested; variant in mother; sister tested negative for the variant	M	?	Pakistan	-	-	-	-	-	MFS, TSC	41y mother = focal seizures (HP:0007359);subependymal nodules (HP:0009716). maternal grandfather = epilepsy, index = Lisch nodules (HP:0009737);pneumothorax (HP:0002107);chronic constipation (HP:0012450);scoliosis (HP:0002650);malar hypoplasia (HP:0000272);retrognathia (HP:0000278);micrognathia (HP:0000347);tall forehead (HP:0000348);enophthalmos (HP:0000490)kyphosis.	FBN3, TSC1, TSC2	FBN2, TSC1	2	2	Rosemary Ekong
00269781	-	-	-	-	-	-	-	-	-	-	-	MFS	-	FBN1	FBN1	2	1	Gemeinschaftspraxis für Humangenetik Dresden
00269782	-	-	-	-	-	-	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00274062	P3	PubMed: Wei 2011	-	-	-	China	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Johan den Dunnen
00296004	-	Author 2020, submitted	-	F	no	Spain	white	>49y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296005	-	Author 2020, submitted	-	M	no	(Spain)	white	>54y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296006	-	Author 2020, submitted	-	F	no	(Spain)	white	>42y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296008	-	Author 2020, submitted	-	F	no	(Spain)	white	>34y	-	12y	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296009	-	Author 2020, submitted	-	M	no	(Spain)	white	>42y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296010	-	Author 2020, submitted	-	M	no	(Spain)	white	>36y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296011	-	Author 2020, submitted	-	M	no	(Spain)	white	>22y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296012	-	Author 2020, submitted	-	F	no	(Spain)	-	>26y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296013	-	Author 2020, submitted	-	M	no	(Spain)	white	>17y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296014	-	Author 2020, submitted	-	M	no	Spain	white	>23y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296015	-	Author 2020, submitted	-	M	no	Spain	white	>43y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296016	-	Author 2020, submitted	-	F	no	Spain	white	>14y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296137	-	Author 2020, submitted	-	M	no	Spain	white	20y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296249	-	Author 2020, submitted	-	F	no	Spain	white	08y	-	-	-	MFS	-	FBN1	FBN1	2	1	Angel Zuniga
00296250	-	Author 2020, submitted	-	F	no	Spain	white	>43y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296251	-	Author 2020, submitted	-	F	no	Spain	white	>43y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296252	-	Author 2020, submitted	-	M	no	Spain	white	05y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296253	-	Author 2020, submitted	-	F	no	Spain	white	>43y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296254	-	Author 2020, submitted	-	F	no	-	white	>54y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296255	-	Author 2020, submitted	-	M	no	Spain	white	>43y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296256	-	Author 2020, submitted	-	M	no	Spain	white	40y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00296257	-	Author 2020, submitted	-	M	no	Spain	white	28y	-	-	-	MFS	-	FBN1	FBN1	1	1	Angel Zuniga
00303307	P1	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303308	P3	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303309	P4	-	-	M	yes	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303310	P5	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303311	P6	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	3	Katta M Girisha
00303312	P8	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303313	P9	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303314	P14	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303315	P18	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303316	P20	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303317	P21	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303318	P22	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303319	P25	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	3	Katta M Girisha
00303320	P26	-	-	F	yes	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	3	Katta M Girisha
00303321	P28	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303322	P29	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00303323	P30	-	-	M	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	3	Katta M Girisha
00303324	P32	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00303325	P34	-	-	F	no	India	-	-	-	-	-	MFS	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	2	Katta M Girisha
00306166	MF00140-M0018	PubMed: Chesneau 2021, Journal: Chesneau 2021	2-generation family, affected mosaic mother/daughter	F	no	France	-	-	-	-	-	MFS	Thoracic Aortic Aneurysm and systemic score of 8	ACTA2, COL3A1, FBN1, MFAP5, MYH11, MYLK, NOTCH1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	FBN1	1	2	Philippe Khau Van Kien
00306167	MF0050-M0083	PubMed: Chesneau 2021, Journal: Chesneau 2021	2-generation family, affected mosaic father/son and fetus	M	no	France	-	-	-	-	-	MFS	neonatal MFS	FBN1	FBN1	1	3	Philippe Khau Van Kien
00306168	MF0140-M0235	PubMed: Chesneau 2021, Journal: Chesneau 2021	3-generation family, affected mosaic mother, son and 2 grand-children (F, 3M)	M	no	France	-	-	-	-	-	MFS	-	ACTA2, COL3A1, FBN1, MYH11, MYLK, NOTCH1, SLC22A10, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	FBN1	1	4	Philippe Khau Van Kien
00323595	-	PubMed: Phillips et al., 1990	The p.Arg708Gln variant found in this patient is now thought to be a normal variant in the population with a frequency of around 0.1%. It is suggested by PubMed: Voumund et al., 2004 that it may have a modifying role in the pathogenesis of connective tissue disorders.	-	-	-	-	-	-	-	-	MFS	-	COL1A2	COL1A2	1	1	Raymond Dalgleish
00324286	P16	-	-	F	no	India	-	-	-	-	-	MFS	disproportionate tall stature (HP:0001519), aortic root dilatation (HP:0002616), ectopia lentis (HP:0001083), myopia (HP:0000545), mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00324287	P27	-	-	M	no	India	-	-	-	-	-	MFS	disproportionate tall stature (HP:0001519), aortic root dilatation (HP:0002616), ectopia lentis (HP:0001083), myopia (HP:0000545), mitral valve prolapse (HP: 0001634)	FBN1	FBN1	1	1	Katta M Girisha
00359594	-	-	-	-	-	-	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00372403	2020F112	PubMed: Zhao 2021	-	M	yes	China	African	30y-40y	-	-	-	MFS	Wrist and thumb sign Pectus Excavatum Plain Flat Foot Facial features Myopia Retinal detachment Overgrowth of the long bones Aortic dissection	FBN1	FBN1	1	5	Shuquan Zhao
00376464	EENT002	PubMed: Chen 2021, Journal: Chen 2021	-	-	-	China	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Zexu Chen
00376659	EENT003	PubMed: Chen 2021, Journal: Chen 2021	-	-	-	China	-	-	-	-	-	MFS	-	-	FBN1	1	1	Zexu Chen
00376660	EENT004	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	-	-	FBN1	1	1	Zexu Chen
00376661	EENT005	PubMed: Chen 2021, Journal: Chen 2021	-	-	-	China	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Zexu Chen
00376662	EENT006	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Zexu Chen
00376663	EENT007	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Zexu Chen
00376664	EENT008	PubMed: Chen 2021, Journal: Chen 2021	-	-	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376667	EENT0020	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376668	EENT0011	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	-	-	FBN1	1	1	Zexu Chen
00376669	EENT0012	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis microspherophakia	FBN1	FBN1	1	1	Zexu Chen
00376671	EENT0014	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis microshpheriphakia	-	FBN1	1	1	Zexu Chen
00376672	EENT0015	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	-	-	-	-	-	MFS	ectopia lentis	-	FBN1	1	1	Zexu Chen
00376673	EENT0016	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376674	EENT0017	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376675	EENT0019	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	-	FBN1	1	1	Zexu Chen
00376799	EENT0021	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	-	-	FBN1	1	1	Zexu Chen
00376800	EENT0022	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376801	EENT0023	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376802	EENT0024	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376803	EENT0025	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376804	EENT0026	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376805	EENT0027	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376806	EENT0028	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376807	EENT0029	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376808	EENT0030	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376809	EENT0031	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	-	FBN1	FBN1	1	1	Zexu Chen
00376827	EENT0032	PubMed: Chen 2021, Journal: Chen 2021	-	-	-	China	-	-	-	-	-	MFS	ectopia lentis	FBN1	FBN1	1	1	Zexu Chen
00376829	EENT0033	PubMed: Chen 2021, Journal: Chen 2021	-	M	-	China	-	-	-	-	-	MFS	ectopia lentis	-	FBN1	1	1	Zexu Chen

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Global Variome shared LOVD

TRIP12 (thyroid hormone receptor interactor 12)