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Page 1
Vasculitis mimics.
Molloy ES, Langford CA. Molloy ES, et al. Curr Opin Rheumatol. 2008 Jan;20(1):29-34. doi: 10.1097/BOR.0b013e3282f1dcf2. Curr Opin Rheumatol. 2008. PMID: 18281854 Review.
Under-recognized mimics of medium-vessel vasculitis include segmental arterial mediolysis and Grange syndrome. A large number of entities can mimic small-vessel vasculitis. Recent descriptions of antibodies to human neutrophil elastase have provided insight into the …
Under-recognized mimics of medium-vessel vasculitis include segmental arterial mediolysis and Grange syndrome. A large number …
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2017 Jan 5;100(1):21-30. doi: 10.1016/j.ajhg.2016.11.008. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939641 Free PMC article.
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early …
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves …
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome?
Weymann S, Yonekawa Y, Khan N, Martin E, Heppner FL, Schinzel A, Kotzot D. Weymann S, et al. Am J Med Genet. 2001 Mar 15;99(3):190-5. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1138>3.0.co;2-r. Am J Med Genet. 2001. PMID: 11241488
We report on a 15-year-old boy with stenosis and occlusion of multiple cranial, renal, and celiac arteries, aneurysm of the basilar artery, bilateral cutaneous syndactyly between fingers IV-V, partial cutaneous syndactyly between fingers III-IV on the right hand, brachydactyly …
We report on a 15-year-old boy with stenosis and occlusion of multiple cranial, renal, and celiac arteries, aneurysm of the basilar artery, …
Grange syndrome due to homozygous YY1AP1 missense rare variants.
Ciuffetelli Alamo IV, Kwartler CS, Regalado ER, Afifi RO, Parkash S, Rideout A, Guo DC, Milewicz DM. Ciuffetelli Alamo IV, et al. Am J Med Genet A. 2019 Dec;179(12):2500-2505. doi: 10.1002/ajmg.a.61379. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633303
Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Grange syndrome is …
Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disea …
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N. Saida K, et al. J Hum Genet. 2019 Sep;64(9):885-890. doi: 10.1038/s10038-019-0626-0. Epub 2019 Jul 4. J Hum Genet. 2019. PMID: 31270375
Biallelic YY1AP1 mutations are known to cause Grange syndrome. Unlike previously reported patients, our patient presented with intracerebral hemorrhagic stroke without anomalous brain artery or bone fragility. The phenotype in our patient may help better understand …
Biallelic YY1AP1 mutations are known to cause Grange syndrome. Unlike previously reported patients, our patient presented with …
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U. Rath M, et al. Am J Med Genet A. 2019 Feb;179(2):295-299. doi: 10.1002/ajmg.a.60700. Epub 2018 Dec 17. Am J Med Genet A. 2019. PMID: 30556293 Free PMC article.
Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. ...Therefore, our report further delineates the phenotypic spectrum of Grange syndrome....
Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. ...Therefore, our r …
Grange syndrome: an identifiable cause of stroke in young adults.
Volonghi I, Frigerio M, Mardighian D, Gasparotti R, Del Zotto E, Giossi A, Costa P, Poli L, Jeannin G, Gregorini GA, Padovani A, Pezzini A. Volonghi I, et al. Am J Med Genet A. 2012 Nov;158A(11):2894-8. doi: 10.1002/ajmg.a.35593. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987684
Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. ...We report on the case of an 18-year-old female presenting with s …
Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardi …
Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.
Grange DK, Balfour IC, Chen SC, Wood EG. Grange DK, et al. Am J Med Genet. 1998 Feb 17;75(5):469-80. doi: 10.1002/(sici)1096-8628(19980217)75:5<469::aid-ajmg4>3.0.co;2-i. Am J Med Genet. 1998. PMID: 9489789
We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cerebral, abdominal and probably coronary arteries due to suspected fibromuscular dysplasia, congenital cardiac abnormalities, brachydactyly …
We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cereb …
A new case of Grange syndrome without cardiac findings.
Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K. Wallerstein R, et al. Am J Med Genet A. 2006 Jun 15;140(12):1316-20. doi: 10.1002/ajmg.a.31125. Am J Med Genet A. 2006. PMID: 16691574
Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. ...
Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and card …
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Raggio V, Dell'Oca N, Simoes C, Tapié A, Medici C, Costa G, Rodriguez S, Greif G, Garrone E, Rovella ML, Gonzalez V, Halty M, González G, Shin JY, Shin SY, Kim C, Seo JS, Graña M, Naya H, Spangenberg L. Raggio V, et al. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. Hum Genomics. 2021. PMID: 33971976 Free PMC article.
We found a frameshift variant in one copy and a large deletion involving two exons in the other copy of a gene called YY1AP1. This gene is related to Grange syndrome, a recessive rare disease, whose symptoms include stenosis or occlusion of multiple arteries, congen …
We found a frameshift variant in one copy and a large deletion involving two exons in the other copy of a gene called YY1AP1. This gene is r …