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

Official abbreviation MFS
Name syndrome, Marfan (MFS)
OMIM ID 154700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 176
Phenotype entries for this disease 165
Associated with 1 gene FBN1
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

176 entries on 2 pages. Showing entries 1 - 100.
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00004042 - - - M no - (not applicable) russian >01y 0 - - MFS - FBN1, TGFBR1, TGFBR2 FBN1 1 1 Yulia Rogozhina
00035753 - - - - - Germany - - 0 - - MFS Marfan syndrome FBN1 FBN1 1 1 Andreas Laner
00035757 - - - - - Germany - - 0 - - MFS Marfan syndrome FBN1 FBN1 1 1 Andreas Laner
00035765 - - - - - Germany - - 0 - - MFS Marfan syndrome, familial FBN1 FBN1 1 1 Andreas Laner
00035785 - - - - - Germany - - 0 - - MFS Marfan syndrome FBN1 FBN1 1 1 Andreas Laner
00035790 - - - - - Germany - - 0 - - MFS Marfan syndrome, familial FBN1 FBN1 1 1 Andreas Laner
00053061 - - - M - Iran Iranian - 0 - - 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 0 - - MFS Marfan syndrome FBN1 FBN1 1 1 Kristina Lagerstedt Robinson
00053064 - - - M - Finland - >41y 0 - - MFS Marfan sydnrome,aortic dissection, dural ectasia FBN1 FBN1 1 1 Kristina Lagerstedt Robinson
00053065 - - - M - Jordan - >37y 0 - - MFS Marfan syndrome,tall stature, aortic dissection, long narrow feet FBN1 FBN1 1 1 Kristina Lagerstedt Robinson
00053066 - - - M - Sweden - >9y 0 - - MFS Marfan syndrome FBN1 FBN1 1 1 Kristina Lagerstedt Robinson
00053067 - - - M no - - - 0 - - MFS Marfan syndrome FBN1 FBN1 1 1 Paul Coucke
00081038 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - MFS Marfan syndrome (OMIM:154700) FBN1 FBN1 1 1 Daniel Trujillano
00100212 - - - - - Germany - - 0 - - MFS - FBN1 FBN1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00152020 - - - - - - - - 0 - - MFS - FBN1 FBN1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00207904 - - - - - - - - 0 - - MFS - FBN1, TGFB1, TGFB2 FBN1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00229824 Individual 1 - - M no Italy - 27y 0 - - 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 - 0 - - 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 0 - - 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 - - 0 - - 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 - - - - - - - - 0 - - MFS - FBN1 FBN1 2 1 Gemeinschaftspraxis für Humangenetik Dresden
00269782 - - - - - - - - 0 - - MFS - FBN1 FBN1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00274062 P3 PubMed: Wei 2011 - - - China - - 0 - - MFS - FBN1 FBN1 1 1 Johan den Dunnen
00296004 - Author 2020, submitted - F no Spain white >49y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296005 - Author 2020, submitted - M no (Spain) white >54y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296006 - Author 2020, submitted - F no (Spain) white >42y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296008 - Author 2020, submitted - F no (Spain) white >34y 0 12y - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296009 - Author 2020, submitted - M no (Spain) white >42y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296010 - Author 2020, submitted - M no (Spain) white >36y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296011 - Author 2020, submitted - M no (Spain) white >22y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296012 - Author 2020, submitted - F no (Spain) - >26y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296013 - Author 2020, submitted - M no (Spain) white >17y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296014 - Author 2020, submitted - M no Spain white >23y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296015 - Author 2020, submitted - M no Spain white >43y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296016 - Author 2020, submitted - F no Spain white >14y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296137 - Author 2020, submitted - M no Spain white 20y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296249 - Author 2020, submitted - F no Spain white 08y 0 - - MFS - FBN1 FBN1 2 1 Angel Zuniga
00296250 - Author 2020, submitted - F no Spain white >43y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296251 - Author 2020, submitted - F no Spain white >43y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296252 - Author 2020, submitted - M no Spain white 05y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296253 - Author 2020, submitted - F no Spain white >43y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296254 - Author 2020, submitted - F no - white >54y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296255 - Author 2020, submitted - M no Spain white >43y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296256 - Author 2020, submitted - M no Spain white 40y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00296257 - Author 2020, submitted - M no Spain white 28y 0 - - MFS - FBN1 FBN1 1 1 Angel Zuniga
00303307 P1 - - F no India - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 {PMID15172002:Voumund et al., 2004} that it may have a modifying role in the pathogenesis of connective tissue disorders. - - - - - 0 - - MFS - COL1A2 COL1A2 1 1 Raymond Dalgleish
00324286 P16 - - F no India - - 0 - - 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 - - 0 - - 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 - - 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 赵 枢泉
00376464 EENT002 - - - - - - - - - - MFS - FBN1 FBN1 1 1 Zexu Chen
00376659 EENT003 - - - - China - - - - - MFS - - FBN1 1 1 Zexu Chen
00376660 EENT004 - - M - China - - - - - MFS - - FBN1 1 1 Zexu Chen
00376661 EENT005 - - - - China - - - - - MFS - FBN1 FBN1 1 1 Zexu Chen
00376662 EENT006 - - M - China - - - - - MFS - FBN1 FBN1 1 1 Zexu Chen
00376663 EENT007 - - F - China - - - - - MFS - FBN1 FBN1 1 1 Zexu Chen
00376664 EENT008 - - - - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376667 EENT0020 - - M - China - - - - - MFS ectopia lentis FBN1 - 0 1 Zexu Chen
00376668 EENT0011 - - M - China - - - - - MFS - - - 0 1 Zexu Chen
00376669 EENT0012 - - M - China - - - - - MFS ectopia lentis microspherophakia FBN1 FBN1 1 1 Zexu Chen
00376671 EENT0014 - - M - China - - - - - MFS ectopia lentis microshpheriphakia - FBN1 1 1 Zexu Chen
00376672 EENT0015 - - F - China - - - - - MFS ectopia lentis - FBN1 1 1 Zexu Chen
00376673 EENT0016 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376674 EENT0017 - - F - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376675 EENT0019 - - M - China - - - - - MFS ectopia lentis - FBN1 1 1 Zexu Chen
00376799 EENT0021 - - M - China - - - - - MFS - - FBN1 1 1 Zexu Chen
00376800 EENT0022 - - F - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376801 EENT0023 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376802 EENT0024 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376803 EENT0025 - - F - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376804 EENT0026 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376805 EENT0027 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376806 EENT0028 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376807 EENT0029 - - F - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376808 EENT0030 - - M - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376809 EENT0031 - - M - China - - - - - MFS - FBN1 FBN1 1 1 Zexu Chen
00376827 EENT0032 - - - - China - - - - - MFS ectopia lentis FBN1 FBN1 1 1 Zexu Chen
00376829 EENT0033 - - M - China - - - - - MFS ectopia lentis - FBN1 1 1 Zexu Chen
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