Disease #04193 (TAAD (aneurysms, aortic, thoracic, dissections (TAAD)))

Official abbreviation TAAD
Name aneurysms, aortic, thoracic, dissections (TAAD)
OMIM ID -
Inheritance -
Individuals reported having this disease 58
Phenotype entries for this disease 46
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-14 21:35:57 +01:00 (CET)
Date last edited 2016-03-20 12:15:43 +01:00 (CET)


Individuals

58 entries on 1 page. Showing entries 1 - 58.
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00032341 - PubMed: Guo 2015, Journal: Guo 2015 4-generation family, 8 affecteds (3F, 5M) - no United States - - - - - TAAD see paper; dilatation aortic root and ascending aorta with or without BAV, .. MAT2A MAT2A 1 8 Johan den Dunnen
00032342 - PubMed: Guo 2015, Journal: Guo 2015 - - no France - - - - - TAAD - ACTA2, MAT2A ACTA2, MAT2A 2 1 Johan den Dunnen
00143798 16707561-FamPatII4 PubMed: Niu 2006 - M - Taiwan Chinese, Han - - - - TAAD opun analysis subtle ECG abnormalities SCN5A SCN5A 2 1 Johan den Dunnen
00163774 - - - M - - - - - - - TAAD - - PRKG1 1 1 Alessandra Maugeri
00163775 - - - M - - - - - - - TAAD - - PRKG1 1 1 Alessandra Maugeri
00318213 - PubMed: Weerakkody et al., 2018 The technique used was the custom exome panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318333 - PubMed: Proost et al., 2015 The patient was not suspected of having vascular EDS.The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318334 - PubMed: Campens et al., 2015 The patient had a non-syndromic form of H-TAD. - - - - - - - - TAAD - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318388 - PubMed: Campens et al., 2015 This patient has a syndromic form of H-TAD with features of vascular EDS. - - - - - - - - TAAD - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318516 - PubMed: Weerakkody et al., 2018 The technique used was the custom exome panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318525 - PubMed: Weerakkody et al., 2018 The technique used was the custom exome panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318579 Patient 121 PubMed: Renner et al., 2019 This variant was described as a 'variant of unknown significance' and was predicted to have no effect on splice site by human splicing finder. The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318712 - PubMed: Weerakkody et al., 2018 The technique used was the custom exome panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318737 - PubMed: Weerakkody et al., 2016 Vascular EDS facies and aortic rupture [originally identified with ID 46] - - - white - - - - EDS, EDSVASC, TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318809 Patient 103 PubMed: Renner et al., 2019 The variant is described as a 'variant of unknown significance' and no impact on splicing is predicted by Human Splicing Finder. The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318821 - - Other HDCT (phenotype largely outside EDS spectrum) with vascular phenotype: Marfanoid hypermobility, joint pain, soft thin skin, aortic dilatation, colitis - - - white - - - - EDS, EDSHMB, TAAD Aortic aneurysms and/or dissection, Aortic aneurysms, COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318822 Patient 8 PubMed: Ziganshin et al., 2015 The variant in this patient is described as being of Unknown significance.The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00318859 - PubMed: Poninska et al., 2016 The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00319016 - PubMed: Kathiravel et al., 2012 The patient also harbours a c.848C>G variant in the SLC2A10 gene. The authors speculate that both variants are required to produce the disease phenotype.The technique used was oligonucleotide-based resequencing (OBR). - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00319337 Patient 139 PubMed: Renner et al., 2019 This is a variant of unknown significance as classified by ACMG/AMP guidelines. Patient has a family history of thoracic aortic aneurysm and dissection, and another variant of unknown significance c.2625+10G>C in COL2A1. The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00319356 Pat10 PubMed: Schubert 2016 - - - United States - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00319360 - PubMed: Poninska et al., 2016 The proband had three relatives that carried the same variant. Two of them met the criteria for TAA, but a third, his daughter, did not. The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL3A1 COL3A1 1 1 Raymond Dalgleish
00319395 - PubMed: Weerakkody et al., 2018 The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A2 COL5A2 1 1 Raymond Dalgleish
00319434 - PubMed: Weerakkody et al., 2018 The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A2 COL5A2 1 1 Raymond Dalgleish
00319455 Patient 10 PubMed: Ziganshin et al., 2015 The proband had aneurysm of the ascending aorta.The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A2 COL5A2 1 1 Raymond Dalgleish
00319563 Pat7 PubMed: Schubert 2016 - - - United States - - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Raymond Dalgleish
00319582 - - This patient has a diagnosis of Marfan syndrome (FBN1 positive), but on initial clinical evaluation was atypical for Marfan syndrome, initially classified as Other HDCT (phenotype largely outside EDS spectrum): Ghent systemic score =1, short stature, ectopia lentis, aortic enlargement, Mitral valve prolapse, family history of sudden death. [original ID: 66] - - - white - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319595 Patient 9 PubMed: Ziganshin et al., 2015 The variant in this patient is described as being of Unknown significance.The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Raymond Dalgleish
00319654 - PubMed: Weerakkody et al., 2018 The technique used was the custom exome panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Raymond Dalgleish
00319693 Patient 88 PubMed: Renner et al., 2019 The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Raymond Dalgleish
00319707 Patient 57 PubMed: Renner et al., 2019 The variant is described as a 'variant of unknown significance'. The patient also has a positive family history for intercranial aneurysms. The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Raymond Dalgleish
00319717 Patient 1 PubMed: Ziganshin et al., 2015 The variant is incorrectly reported as being in intron 49.The patient has an ascending and descending aortic aneurysm.The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, COL5A1 COL5A1 1 1 Raymond Dalgleish
00397689 - - - - - - - - - - - TAAD - - SMAD3 1 1 Jasper Saris
00398041 EO2018-Pat63 PubMed: Overwater 2018 possibly identical to CliinVar:VCV000584063.3 M ? - - - - - - TAAD - SMAD3 SMAD3 1 1 Jasper Saris
00398057 - - - M - Netherlands - - - - - TAAD - - SMAD3 1 1 Jasper Saris
00398062 family PubMed: Hilhorst-Hofstee 2013 3-generation family, 4 affected (F, 3M), 4 deletion carriers (2F, 2M) F;M - Netherlands - - - - - TAAD see paper; ..., mental retardation, behavioral problems, aneurysms-osteoarthritis syndrome, aortic aneurysms and dissection SMAD3 SMAD3 2 1 Johan den Dunnen
00398335 BIC5301 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398336 BIC9521 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398337 BIC4191 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398338 BIC886 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398339 BIC792 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398340 BIC873 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398341 BIC029 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398342 BIC915 PubMed: Aubert 2014 - - - France - - - - - TAAD see paper; ... SMAD3 SMAD3 1 1 Johan den Dunnen
00398344 Pat1 PubMed: Renard 2013 - F - Belgium - - - - - TAAD aorta type A dissection, normal mitral valve; flat feet, hallux valgus; mother died in childbirth, 41y-sister died from dissection TGFB2 TGFB2 1 1 Johan den Dunnen
00398345 Pat2 PubMed: Renard 2013 - M - Belgium - - - - - TAAD thoracic aortic aneurysm (43 mm z 2.7), mitral valve prolapse, mitral valve replacement; clubfeet, joint laxity, mild pectus carinatum;h igh arched palate; varicose veins; myopia TGFB2 TGFB2 1 1 Johan den Dunnen
00398346 Pat3 PubMed: Renard 2013 - F - Belgium - - - - - TAAD thoracic aortic aneurysm (40 mm z 5.2), mitral valve prolapse, mild mitral valve regurgitation; joint laxity as child; high palate, retrognatia; local translucency skin; myopia, astigmatism, cataract; recurrent strokes, corckscrew vertebral artery; daughter Marfanoid TGFB2 TGFB2 1 1 Johan den Dunnen
00398347 Pat4 PubMed: Renard 2013 - M - Belgium - - - - - TAAD thoracic aortic aneurysm (40 mm z 3.4), mitral valve prolapse; joint laxity; myopia, strabismus; TGFB2 TGFB2 1 1 Johan den Dunnen
00398348 Pat5 PubMed: Renard 2013 - M - Belgium - - - - - TAAD (41 m z 3.5), trivial mitral valve regurgitation; arachnodactyly, camptodactyly, kyphoscoliosis; hypertelorism, downslanting palpebral fissures, malar hypoplasia, high palate, retrognatia; skin atrophic scarring; daughter spontaneous pneumothorax, 43y-father sudden death TGFB2 TGFB2 1 1 Johan den Dunnen
00398349 Pat6 PubMed: Renard 2013 - M - Belgium - - - - - TAAD aorta type A dissection (<50 mm), mitral valve prolapse, mitral valve replacement; pectus carinatum, arachnodactyly, joint hypermobility; striae skin TGFB2 TGFB2 1 1 Johan den Dunnen
00412792 TAAD-1, III-4 PubMed: Guo et al., 2022 This variant was found in four subjects within the same family. they are referred to as TAAD-1, II-8 / TAAD-1 III-12 / TAAD - 1, IV-3 / TAAD-1 IV-7 F no China - - - - - TAAD 40-year-old woman who was admitted to the hospital because of abdominal pain for one month. A CTA examination revealed thoracic aortic aneurysm,bilateral common iliac aneurysm, and right common iliac artery dissection. COL3A1 COL3A1 1 1 Oumaima Nehaili
00412793 TAAD-1, II-8 PubMed: Guo et al., 2022 - M no China - - - - - TAAD - COL3A1 COL3A1 1 1 Oumaima Nehaili
00412794 TAAD-1, III-12 PubMed: Guo et al., 2022 - F - China - - - - - TAAD - COL3A1 COL3A1 1 1 Oumaima Nehaili
00412795 TAAD-1, IV-3 PubMed: Guo et al., 2022 - F no China - - - - - TAAD - COL3A1 COL3A1 1 1 Oumaima Nehaili
00412796 TAAD-1, IV-7 PubMed: Guo et al., 2022 - F no China - - - - - TAAD - COL3A1 COL3A1 1 1 Oumaima Nehaili
00413238 2 PubMed: Erhart et al., 2022 - M no - non-Finish caucasian - - - - TAAD Aortic dissection at bilateral ICA, left VA, aorta type. Skin biopsies showed structural abnormalities of skin connective tissue integrity including small-caliber collagen fibrils. COL3A1 COL3A1 1 1 Oumaima Nehaili
00424544 10 PubMed: Yamaguchi et al., 2022 - M ? Japan - - - - - EDSVASC, TAAD Patient positive for aortic dissection and spontaneous pneumothorax. Family history is significant for mother who died from aortic dissection. COL3A1 COL3A1 1 1 Oumaima Nehaili
00432455 - - - - - - - - - - - TAAD - FBN2 FBN2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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