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

195 entries on 2 pages. Showing entries 1 - 100.
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Individual ID     
0000291175 Spontaneous hematomas, Abnormal vascular morphology, Abnormal systemic arterial morphology, Bruising susceptibility, Inguinal hernia, Muscular hypotonia, Premature rupture of membranes, Premature birth following premature rupture of fetal membranes - - Familial, autosomal dominant - - - - - Andreas Laner 00398065
0000295789 see paper; ..., low muscle tonus, skin tearing, excessive bleeding upon laparoscopic myomectomy surgery for uterine fibroids; medical history of indirect carotid-cavernous sinus fistula 26y-treated with intravenous embolization; “Madonna” face with large eyes, nasal thinning, small earlobes, thin translucent skin with telangiectasia; no obvious hypermobility small joint, no skin hyperextensibility; skin biopsy specimen showed sparse and thin collagen fibers indermis; no family hstory - - Isolated (sporadic) 36y - - - - Johan den Dunnen 00402743
0000302121 slender extremities, thin and translucent skin, talipesequinovarus, a visible venous pattern over limbs, chest, abdomen and extremities - - Isolated (sporadic) - - - - - Oumaima Nehaili 00410008
0000304007 Patient had velvety, smooth, thin skin with visible veins in the hands and feet, acrogeria of the limbs and ecchymosis. Vascular abnormalities were found by means of computed tomography angiogra- phy (CTA). Patient was hospitalized with a complaint of upper abdominal pain and had a history of bowel rupture. vEDS - Familial 36y 36y - - - Oumaima Nehaili 00411992
0000304008 A 39-year-old male patient was admitted to the hospital with blurred vision of the right eye and right hemispheric headache. His symptoms had started 2 weeks before and partially resolved over time.Brain MRI and angiography of carotid and vertebral arteries showed dissection and total occlusion of the right internal carotid artery.Two years later, he had left lumbar and lower quadrant abdominal pain. Abdominal imaging and MRI angiography showed a dissected aneurysm of the left common iliac artery of approximately 3.5 cm. Patient underwent aneurysm resection and anastomosis. The operation required further revisions and transfusions, but the patient recovered without any other events. vEDS - Familial 39y 39y - - - Oumaima Nehaili 00411993
0000304783 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. 40 - Familial - - - - - Oumaima Nehaili 00412792
0000306496 High myopia, unilateral bullous retinal detachment, and vitreous hemorrhage was referred for surgery. The patient had a history of colon perforation, muscle and arterial rupture in both lower limbs, and recurrent shoulder joint luxations. Genetic testing revealed a pathogenic mutation in the COL3A1 gene. The patient underwent a 25-gauge three-port pars plana vitrectomy. - - Unknown 40y - - - - Oumaima Nehaili 00414701
0000306497 10‐year history of sprains and muscle ruptures. He reported six left knee sprains, two ruptures of the right rectus femoris muscle. - - Unknown 40y - - - - Oumaima Nehaili 00414702
0000307589 58-year-old female seen in the Genetics Clinic at the University of Kansas Medical Center for discomfort in the upper quadrant of her abdomen, irritable bowel syndrome (IBS), and a history of surgical repair during the past two years due to a spontaneous transverse colon perforation without diverticulosis and a positive family history of colon perforation. She had no history of Hirschsprung’s disease or megacolon prior to colon perforation. She had a previous history of abdominal pain and discomfort as a young child and IBS, fibromyalgia, and Raynaud’s phenomenon since 18 years of age. Other review of systems was normal. The family history showed her maternal grandmother dying at 40 years of age from an unknown cause possibly involving the female reproductive tract. Her mother had a perforated colon at age 78 years and the surgical repair was attempted with some success but died two years later from poor healing and leakage from the intestine. Her 53-year-old sister had a colon resection due to imminent perforation and is under surveillance. Her 61-year-old sister had a perforation of the colon with colostomy and is under surveillance. Her maternal niece had a colon perforation age 31 years of age and is under current surveillance. Her first cousin (her mother’s brother’s son) was diagnosed with a perforation of the colon at six years of age and has a colostomy. Hence, there are six affected individuals including both sexes having had a perforation of the colon and/or surgical procedures performed due to an imminent risk of colon perforation. - vEDS Familial 58y - - - - Oumaima Nehaili 00415817
0000307590 19‐year‐old male patient was referred to the hospital for recurrent pneumothorax. He previously experienced seven episodes of pneumothorax refractory to conventional treatment including pleurodesis and wedge resection. On admission, chest computed tomography scan showed multiple cystic lesions with surrounding ground‐glass opacities and several nodules in both lungs. Detailed history revealed that the patient experienced haemoptysis whenever pneumothorax developed and had a family history of sudden death. Physical examination showed large eyes with conjunctival injection, hypermobile joints, and hyper‐extensive and easily bruised skin. It revealed deep‐set eyes with infraorbital creases, and the skin surface was thin with increased venous visibility. Chest auscultation was normal. - - Familial 19y - - - - Oumaima Nehaili 00415818
0000310494 - 59 - Unknown - - - - - Oumaima Nehaili 00419206
0000310495 Mother died of carotid-cavernous sinus fistula 29 - Familial - - - - - Oumaima Nehaili 00419207
0000310496 Family History: Mother died at 30s, subarachnoid hemorrhage 15 - Familial - - - - - Oumaima Nehaili 00419208
0000310497 - 45 - Unknown - - - - - Oumaima Nehaili 00419209
0000315735 Positive for easy bruising, thin/translucent skin, characteristic facial features and hypermobility of small joints. Family history is significant: Mother died at 32 years, aortic dissection; grandfather, died at 30s, aortic dissection. vEDS - Familial 17y - - - - Oumaima Nehaili 00424539
0000315736 Patient positive for aortic dissection, carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, gingival recession/fragility and keratoconus. Patient developed a right carotid-cavernous sinus fistula at age 47 years, which was treated with coil embolization. During the procedure, a left internal carotid artery dissection occurred and was treated with stent placement. Asymptomatic bilateral external iliac artery dissection and right colic artery dissection were found on thoracoabdominal CT angiography. At age 53 years, coil embolization was performed three times for the recurrent left carotid-cavernous sinus fistula. - - Unknown 54y - - - - Oumaima Nehaili 00424540
0000315737 Patient is positive for carotid-cavernous sinus fistula, easy bruising, talipes equinovarus, and hypermobility of small joints. Family history is positive but details are unknown. - - Familial 21y - - - - Oumaima Nehaili 00424541
0000315738 Patient is positive for Aortic and Arterial dissection, easy bruising, thin/translucent skin, acrogeria and gingival recession/fragility. No family history is known. - - Unknown 34y - - - - Oumaima Nehaili 00424542
0000315739 Patient positive for Aortic dissectioni. LDS/FTAAD were suspected before molecular testing. Father, died at 62 years, aortic dissection; sister (46 years), variant positive; cousin (51 years), aortic dissection, variant positive; cousin's daughter (21 years) and son (19 years), variant positive. Patient and his cousin developed dissection of ascending aorta at age 50 and 51 years, respectively. Both underwent valve-replacement surgery safely with no fragility-related complications. Patient 9 had skin striae but no other skeletal or skin features associated with MFS or vEDS, and his cousin (III-3) had atrophic scars and skin translucency. They were suspected to have LDS or FTAAD. The current NGS-based investigation revealed a heterozygous nonsense variant in COL3A1. Skin fibroblasts cultured from Patient 9 showed a decreased level of type III collagen production (22.7% of normal, Figure 3a). They were both diagnosed with vEDS, followed by initiation of celiprolol therapy. His cousin's asymptomatic daughter and son were also diagnosed molecularly and have begun regular vascular surveillance. 50y - Familial 50y - - - - Oumaima Nehaili 00424543
0000315740 Patient positive for aortic dissection and spontaneous pneumothorax. Family history is significant for mother who died from aortic dissection. 27y - Familial 27y - - - - Oumaima Nehaili 00424544
0000315741 Patient is positive for arterial rupture, easy bruising, thin/translucent skin, spontaneous pneumothorax, hypermobility of small joints, and early onset of varicose veins. Family history is significant for Father who died from sudden death after chest trauma. 38y - Familial 38y - - - - Oumaima Nehaili 00424545
0000315742 Patient was positive for arterial rupture and spontaneous pneumothorax. Family history significant for Father who died at 30 years due to arterial rupture. Patient died from a rupture of the right internal thoracic artery at age 15. 15y - Familial - - - - - Oumaima Nehaili 00424546
0000315743 Patient positive for aterial rupture, uterine rupture, easy bruising, thin/translucent skin, characteristic facial features, tendon and muscle rupture and gingival recession/fragility. Family history is significant for a Daughter who has thin skin and is variant positive; son (10 years), thin skin, muscle rupture, variant positive. developed an abdominal muscle rupture and was found to have an aortic aneurysm during her high school days, which ruptured at 32 weeks of gestation of her first pregnancy. She underwent an aortoplasty following an emergency cesarean section, which saved her life with no sequelae but resulted in severe hypoxic ischemic encephalopathy in her daughter. During her second pregnancy, she was suspected to have vEDS because of skin translucency and easy bruising in addition to the previous events. Her cultured skin fibroblasts showed a decreased amount of type III collagen production (29.5% of normal). - - Familial 37y - - - - Oumaima Nehaili 00424547
0000315744 Patient positive for aortic rupture, arterial rupture, sigmoid colon perforation, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, hypermobility of small joints, gingival recession/fragility, and early onset of varicose veins. Family history is significant for a son (6 years), easy bruising, spontaneous pneumothorax, thin skin, joint hypermobility, variant positive; daughter (6 years), thin skin, joint hypermobility, variant positive. - - Familial 28y - - - - Oumaima Nehaili 00424548
0000315745 Patient positive for easy bruising, thin/translucent skin, characteristic facial features, and hypermobility of small joints. Family history is significant fora Father who died at 25 years due to aortic dissection. 8y - Familial 08y - - - - Oumaima Nehaili 00424549
0000315746 Patient positive for arterial dissection and rupture, easy bruising, thin/translucent skin, characteristic facial features, and spontaneous pneumothorax. Family history is significant for a Mother with no symptoms, variant negative (germline mosaicism suspected); maternal half-brother, easy bruising, hematoma, vascular fragility, variant positive. 25y - Familial 25y - - - - Oumaima Nehaili 00424550
0000315747 Patient positive for arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, acrogeria, hypermobility of small joints, and gingival recession/fragility. Family history is significant for a Daughter (6 years) who has easy bruising, variant positive. 39y - Familial 39y - - - - Oumaima Nehaili 00424551
0000315748 Patient positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, acrogeria, talipes equinovarus and hypermobility of small joints. No family history. 32y - Familial 32y - - - - Oumaima Nehaili 00424552
0000315749 Patient positive for arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, hypermobility of small joints and gingival recession/fragility. No family history reported. 55y - Unknown 55y - - - - Oumaima Nehaili 00424553
0000315750 Patient positive for aortic and arterial dissection, arterial rupture, easy bruising, thin/translucent skin and acrogeria. Family history is significant for a Mother who died at 33 years from arterial rupture, variant positive. 38y - Familial 38y - - - - Oumaima Nehaili 00424554
0000315751 Patient positive for carotid-cavernous sinus fistula, easy bruising, characteristic facial features, hypermobility of small joints. No family history reported. 42y - Unknown 42y - - - - Oumaima Nehaili 00424555
0000315752 Patient positive for arterial dissection, easy bruising, thin/translucent skin, characteristic facial features, acrogeria and hypermobility of small joints. Family history is significant for a Mother with easy bruising, pulmonary valve stenosis, meniscus injury, variant positive. 30y - Familial 30y - - - - Oumaima Nehaili 00424556
0000315754 Patient positive for aortic and arterial dissection, easy bruising, thin/translucent skin, hypermobility of small joints and early onset of varicose veins. Family history significant for a Daughter (37 years) with easy bruising, joint hypermobility, tendon and muscle rupture, variant positive. 65y - Familial 65y - - - - Oumaima Nehaili 00424558
0000315755 Patient positive for aortic dissection, arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, hypermobility of small joints and gingival recession/fragility. Family history is significant for a sister with hx of uterine rupture. 48y - Familial 48y - - - - Oumaima Nehaili 00424559
0000315756 Patient positive for thin/translucent skin, characteristic facial features, spontaneous pneumothorax and hypermobility of small joints. Family history is not reported. 16y - Unknown 16y - - - - Oumaima Nehaili 00424560
0000315757 Patient is positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, and hypermobility of small joints. Family history of father with easy bruising. 31y - Familial 31y - - - - Oumaima Nehaili 00424561
0000315760 Patient is positive for arterial dissection. Family history is significant for a Father who died at 54 years from aortic dissection; brother (29 years), subclavian artery aneurysm. 33y - Familial 33y - - - - Oumaima Nehaili 00424562
0000315987 Positive for arterial rupture, easy bruising, spontaneous pneumothorax, characteristic facial features, acrogeria, talipes equinovarus, hypermobility of small joints. FH significant for Son (14y) variant positive - - Familial 43y - - - - Oumaima Nehaili 00424792
0000315988 Positive for arterial dissection, easy bruising, and hypermobility of small joints. - - Unknown 25y - - - - Oumaima Nehaili 00424793
0000315989 Positive for arterial rupture and easy bruising. 26y - Unknown - - - - - Oumaima Nehaili 00424794
0000315990 Positive for thin translucent skin, spontaneous pneumothorax, and hypermobility of small joints. Father died at age 30 from aortic dissection. - - Familial 24y - - - - Oumaima Nehaili 00424795
0000315991 Positive for easy bruising, characteristic facial features, thin/translucent skin, acrogeria, congenital hip dislocation, hypermobility of small joints, tendon and muscle rupture, and gingival recession. - - Unknown 49y - - - - Oumaima Nehaili 00424796
0000315992 Positive for arterial rupture, spontaneous pneumothorax, and tendon and muscle rupture. - - Unknown 17y - - - - Oumaima Nehaili 00424797
0000315993 Positive for carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, acrogeria, tendon and muscle rupture and gingival recession. Family history significant for daughter and son variant positive. - - Familial 53y - - - - Oumaima Nehaili 00424798
0000315994 Positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, talipes equinovarus, and hypermobility of small joints. - - Unknown 24y - - - - Oumaima Nehaili 00424799
0000321076 Diagnosed with vEDS - vEDS Unknown 22 22y - - - Duncan Baker 00430267
0000321078 arterial events EDSV EDSV Familial, autosomal dominant 47y 47y - - - Duncan Baker 00430269
0000321079 arterial events EDSV EDSV Familial, autosomal dominant 17y 17y - - - Duncan Baker 00430271
0000321081 - EDSV EDSV Familial, autosomal dominant 11y 11y - - - Duncan Baker 00430272
0000321103 Arterial events - - Unknown - 28y - - - Duncan Baker 00430295
0000321104 bowel rupture: sigmoid colon age 46 - - Unknown - 52y - - - Duncan Baker 00430296
0000321108 - - - Unknown - - - - - Duncan Baker 00430297
0000321109 arterial events, aortic dissection age 64 - - Unknown - - - - - Duncan Baker 00430297
0000321110 arterial events bowel rupture age 25 - - Unknown - 38y - - - Duncan Baker 00430297
0000321111 arterial events - - Familial, autosomal dominant - - - - - Duncan Baker 00430298
0000321112 arterial events - - Familial, autosomal dominant - 33y - - - Duncan Baker 00430300
0000321114 arterial events bowel rupture age 22 - - Unknown - 37y - - - Duncan Baker 00430301
0000321116 arterial events - - Unknown - 53y - - - Duncan Baker 00430303
0000321117 pneumothorax age 12 weeks - - Unknown - 06y - - - Duncan Baker 00430304
0000321118 arterial events - - Familial, autosomal dominant - 27y - - - Duncan Baker 00430305
0000321119 arterial events multiple pneumothorax age 26 - - Unknown - 29y - - - Duncan Baker 00430306
0000321120 bowel rupture: sigmoid colon age 45 - - Familial, autosomal dominant - 51y - - - Duncan Baker 00430307
0000321121 pneumothorax age 22 - - Unknown - 20y - - - Duncan Baker 00430308
0000321122 arterial events - - Unknown - - - - - Duncan Baker 00430309
0000321123 arterial events - - Familial, autosomal dominant - 33y - - - Duncan Baker 00430310
0000321124 arterial events - - Unknown - 46y - - - Duncan Baker 00430311
0000321125 arterial events - - Familial, autosomal dominant - 23y - - - Duncan Baker 00430312
0000321126 - - - Unknown - 38y - - - Duncan Baker 00430313
0000321127 arterial events pneumothorax age 25 - - Familial, autosomal dominant - 22y - - - Duncan Baker 00430314
0000321128 arterial events splenectomy age 13, bowel: colon age 13 - - Familial, autosomal dominant - 46y - - - Duncan Baker 00430315
0000321129 - - - Familial, autosomal dominant - 09y - - - Duncan Baker 00430316
0000321130 arterial events bowel rupture age 15 - - Familial, autosomal dominant - 26y - - - Duncan Baker 00430317
0000321131 - - - Unknown - 05y - - - Duncan Baker 00430318
0000321132 - - - Unknown - 03y - - - Duncan Baker 00430319
0000321133 arterial events - - Unknown - 18y - - - Duncan Baker 00430320
0000321134 arterial events - - Familial, autosomal dominant - 51y - - - Duncan Baker 00430321
0000321135 arterial events - - Familial, autosomal dominant - 33y - - - Duncan Baker 00430322
0000321136 arterial events - - Familial, autosomal dominant - 12y - - - Duncan Baker 00430323
0000321137 - - - Unknown - 18y - - - Duncan Baker 00430324
0000321138 arterial events - - Familial, autosomal dominant - 42y - - - Duncan Baker 00430325
0000321139 bowel rupture: rectum age 11, colon age 12 - - Unknown - 11y - - - Duncan Baker 00430326
0000321140 bowel rupture at 16 - - Familial, autosomal dominant - 22y - - - Duncan Baker 00430327
0000321141 - - - Familial, autosomal dominant - 37y - - - Duncan Baker 00430328
0000321142 - - - Familial, autosomal dominant - 28y - - - Duncan Baker 00430329
0000321143 arterial events - - Unknown - 47y - - - Duncan Baker 00430330
0000321144 arterial events - - Familial, autosomal dominant - 40y - - - Duncan Baker 00430331
0000321145 - - - Familial, autosomal dominant - 11y - - - Duncan Baker 00430332
0000322151 haemoptysis & haemothorax age 24 Ehlers-Danlos, vascular type syndrome EDSV Unknown 28y - - - - Duncan Baker 00431576
0000322152 arterial events bowel: large bowel age 29, small bowel age 29 Ehlers-Danlos, vascular type syndrome EDSV Familial, autosomal dominant 28y - - - - Duncan Baker 00431577
0000322153 - Ehlers-Danlos, vascular type syndrome EDSV Unknown 4y - - - - Duncan Baker 00431578
0000322154 arterial events Ehlers-Danlos, vascular type syndrome EDSV Familial, autosomal dominant 46y - - - - Duncan Baker 00431579
0000322155 arterial events Ehlers-Danlos, vascular type syndrome EDSV Unknown 15y - - - - Duncan Baker 00431580
0000322156 arterial events Ehlers-Danlos, vascular type syndrome EDSV Unknown 30y - - - - Duncan Baker 00431581
0000322157 arterial events Ehlers-Danlos, vascular type syndrome EDSV Familial, autosomal dominant 29y - - - - Duncan Baker 00431582
0000322158 arterial events Ehlers-Danlos, vascular type syndrome EDSV Familial, autosomal dominant - - - - - Duncan Baker 00431583
0000322159 bowel rupture age 16 Ehlers-Danlos, vascular type syndrome EDSV Unknown 16y - - - - Duncan Baker 00431584
0000322160 arterial events bowel: sigmoid colon age 9, small bowel age 21 Ehlers-Danlos, vascular type syndrome EDSV Unknown 27y - - - - Duncan Baker 00431585
0000322161 arterial events Ehlers-Danlos, vascular type syndrome EDSV Unknown - - - - - Duncan Baker 00431586
0000322162 - Ehlers-Danlos, vascular type syndrome EDSV Familial, autosomal dominant 18y - - - - Duncan Baker 00431587
0000322163 - Ehlers-Danlos, vascular type syndrome EDSV Familial, autosomal dominant 53y - - - - Duncan Baker 00431588
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