Disease #01302 (EDSVASC (Ehlers-Danlos, vascular type syndrome (EDSVASC EDS4 EDSIV)), OMIM:130050)

Official abbreviation EDSVASC
Name Ehlers-Danlos, vascular type syndrome (EDSVASC EDS4 EDSIV)
OMIM ID 130050
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1295
Phenotype entries for this disease 195
Associated with 1 gene COL3A1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

1295 entries on 13 pages. Showing entries 1 - 100.
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Genes screened
Variants in genes
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Owner     
00288843 - - - M no China Asian 24y - - - EDSVASC - COL3A1 COL3A1 1 1 Tingting Wan
00318081 - PubMed: Yeowell et al., 2000 The PLOD1 substitution variant is incorrectly described as 2032C>T in PubMed: Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.A prenatal diagnosis on the patient's male sibling was carried out. This too is reported in PubMed: Yeowell et al., 2000 and the outcome of the assessment revealed that the fetus had inherited the mutated paternal allele and a normal non-mutated allele from the mother. Although a carrier of this disease, the individual was born healthy. - - United States North American - - - - EDS, EDSVASC - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318196 - PubMed: Frank et al., 2015 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318197 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318199 - PubMed: Frank et al., 2015 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318202 - PubMed: Legrand et al., 2019 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318204 - PubMed: Frank et al., 2015 This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318205 Pat9 PubMed: Overwater 2018 The technique used was the custom NGS Gene panel. - - Netherlands - - - - - EDS, EDSVASC - COL3A1 COL3A1, MYH11 2 1 Alessandra Maugeri
00318207 - PubMed: Schwarze et al., 2001 PubMed: Pepin et al., 2014 The patient was described by PubMed: Schwarze et al., 2001 as patient P2. The patient was subsequently presented as Family 1 by PubMed: Leistritz et al., 2011. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318208 - PubMed: Plancke et al., 2009 The patient is homozygous for the variant and neither parent shows any symptoms of EDS. The variant is described as being in exon 5, but is in exon 6, using the accepted conventional exon numbering scheme. This patient was subsequently described as Patient 3 by PubMed: Vandervore et al., 2017. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318211 - PubMed: Frank et al., 2015 This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318214 - PubMed: Naing et al., 2011 - - - Japan Japanese - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318215 - PubMed: Frank et al., 2015 This patient was subsequently described as Index Patient 219 (30F) in PubMed: Henneton et al., 2019. This patient was described as Patient 1 in PubMed: Frank et al., 2019 and was also described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318216 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318217 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318218 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318219 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318220 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318221 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318222 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318223 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318224 P002 - - - - - white - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Javier Garcia-Planells
00318225 Patient 2 PubMed: Mortani Barbosa et al., 2011 The protein level variant description is incorrectly described as p.G16S. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318226 - PubMed: Frank et al., 2015 This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318227 - PubMed: Kerwin et al., 2008 PubMed: Pepin et al., 2014 This patient was identified as Subject 00-1123 by PubMed: Kerwin et al., 2008. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318228 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318229 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318230 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318231 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318232 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318233 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318234 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318235 - PubMed: Pepin et al., 2014 affected sib - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318236 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318237 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318238 - - This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318239 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318240 - PubMed: Smith et al., 1997 PubMed: Pepin et al., 2014 This patient was identified as Sample 1 by PubMed: Smith et al., 1997 and was subsequently described by PubMed: Pepin et al., 2000. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318241 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318242 - PubMed: Frank et al., 2015 This patient was subsequently as Index Patient 111 (37F) in PubMed: Henneton et al., 2019. This patient was described as Patient 2 in PubMed: Frank et al., 2019 and was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318243 - PubMed: Morissette et al., 2014 Patient 17, Male, 51y, arterial event. His daughter, patient 18, AN_002818, female, 21y, arterial event, carries the same mutation - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Zhi Xu
00318244 - PubMed: Pepin et al., 2014 mosaic parent - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318245 P007 - - - - - white - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Javier Garcia-Planells
00318246 - PubMed: Schwarze et al., 2001 PubMed: Pepin et al., 2014 This patient, described by PubMed: Schwarze et al., 2001 as P3, was subsequently presented as Family 2 by PubMed: Leistritz et al., 2011. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318247 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318248 Pat10 PubMed: Overwater 2018 The technique used was the custom NGS Gene panel. M - Netherlands - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Alessandra Maugeri
00318249 - PubMed: Frank et al., 2015 This patient was subsequently described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318250 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318251 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318252 Patient III-8 PubMed: Henrard et al., 2019 The patient's elder sister (III-6) also harbours the same sequence variant.The variant in this patient lies in exon 7, rather than in exon 6 as reported by the authors. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318253 Patient 3 PubMed: Ferré et al., 2012 This patient is related to Patient 4 in PubMed: Ferré et al., 2012, who carries the same variant. This patient was subsequently described by PubMed: Frank et al., 2015. This patient was subsequently described as Index Patient 303 (21M) in PubMed: Henneton et al., 2019, with two other relatives who carried the same variant, and also described in PubMed: Legrand et al., 2019. They were also described as Patient 4 in PubMed: Frank et al., 2019. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318254 Patient 4 PubMed: Ferré et al., 2012 This patient was subsequently described in {PMID30474650:Legrand et al., 2019} and also described as Patient 3 in {PMID30999998:Frank et al., 2019} - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318255 - PubMed: Frank et al., 2015 This patient was subsequently described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318256 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318257 - PubMed: Schwarze et al., 1997 PubMed: Pepin et al., 2014 Patient is identified as 91-364 by {PMID9399899:Schwarze et al., 1997} and is Sample 12 in {PMID9036918:Smith et al., 1997}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318258 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318259 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318260 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318261 - PubMed: Frank et al., 2015 This patient was subsequently described as Index Patient 340 (14M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 92 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318262 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318263 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318264 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318265 - PubMed: Lloyd et al., 1993 The variant causes skipping of exon 7. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318266 Patient 24 PubMed: Pope et al., 1996 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318267 - PubMed: Milewicz et al., 1993 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318268 - PubMed: Sanchez-Baya et al., 2019 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318269 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318270 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Marco Ritelli, Marina Colombi
00318271 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318272 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318273 - PubMed: Smith et al., 1997 PubMed: Pepin et al., 2014 This patient (Sample 2) was also included in the study by PubMed: Pepin et al., 2000 and has an affected relative (Sample 3) described also in {PMID9036918:Smith et al., 1997}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318274 - PubMed: Collins et al., 1999 PubMed: Pepin et al., 2014 This patient was also included in the study by PubMed: Pepin et al., 2000. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318275 P1 PubMed: Giunta and Steinmann, 2000 The patient's variant was originally described as c.713G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1). - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318276 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318277 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318278 - PubMed: Legrand et al., 2019 This patient was subsequently described as Index Case Patient 107 (29F)in {PMID30919682:Henneton et al., 2019} - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318279 - - - - - Italy Italian - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Marco Ritelli, Marina Colombi
00318280 - PubMed: Pepin et al., 2014 only mother tested nl - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318281 P2 PubMed: Giunta and Steinmann, 2000 The patient's variant was originally described as c.731G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1). - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318282 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318283 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318284 - PubMed: Pepin et al., 2014 affected sib - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318285 - PubMed: Schwarze et al., 1997 PubMed: Pepin et al., 2014 This patient, described as 92-075 by {PMID9399899:Schwarze et al., 1997}, was previously described as Sample 13 by {PMID9036918:Smith et al., 1997} and was also included in the study by PubMed: Pepin et al., 2000. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318286 - PubMed: Schwarze et al., 1997 PubMed: Pepin et al., 2014 This was Patient 94-597 in the study by {PMID9399899:Schwarze et al., 1997}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318287 - PubMed: Pinto et al., 2000 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318288 - PubMed: Chuman et al., 2002 PubMed: Pepin et al., 2014 This patient, described by PubMed: Chuman et al., 2002 as Case 1, was previously described by {PMID3819843:Lach et al., 1987}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318289 - PubMed: Morissette et al., 2014 Patient 13, Male, 27y, arterial event. The patient's sister, Patient 14, AN_002814, also harbours the same variant. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Zhi Xu
00318290 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318291 - PubMed: Legrand et al., 2019 This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 93. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318292 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318293 - PubMed: Frank et al., 2015 This patient was subsequently described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318294 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Marco Ritelli, Marina Colombi
00318295 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318296 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318297 - PubMed: Ferré et al., 2012 This individual is identified as Patient 6 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Patient 103, with a relative (104) carrying the same variant in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Xavier Jeunemaitre
00318298 - PubMed: Lee et al., 1991 This patient was previously described by {PMID2834369:Superti-Furga et al., 1988}. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318299 - PubMed: Rossi et al., 1998 PubMed: Pepin et al., 2014 This patient was also included in the study by PubMed: Pepin et al., 2000. - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318300 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318301 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
00318302 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - COL3A1 COL3A1 1 1 Peter Byers
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