Results 151 to 160 of about 1,942 (174)

Chronic Enteropathy Associated with SLCO2A1 Gene (CEAS)

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Chronic enteropathy associated with SLCO2A1 gene and hereditary fructose intolerance: A coincidence of two rare diseases

Arab Journal of Gastroenterology, 2022
Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare disorder characterized by multiple small intestine ulcers. Patients with CEAS typically present with chronic anemia and gastrointestinal bleeding. Besides CEAS, SLCO2A1 mutations cause primary hypertrophic osteoarthropathy (PHO) which is considered as an extraintestinal manifestation in ...
Utku, Dönger, Khaled, Warasnhe, Figen, Özçay, Zehra, Şule Haskoloğlu, Halil, İbrahim Aydın, Serdar, Ceylaner   +5 more
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A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment

American Journal of Medical Genetics Part A, 2018
Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition.
Alessandrella, Annalisa, Della Casa, Roberto, Alessio, Maria, Puente Prieto, Jorge, Strisciuglio, Pietro, Melis, Daniela   +5 more
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Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy

European Journal of Dermatology, 2013
Primary hypertrophic osteoarthropathy (PHO (MIM 167100)) is a rare genetic disease characterized by pachyderma, periostosis and digital clubbing. Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene and solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene have been demonstrated to be pathogenic causes.We aimed to ...
Ruhong, Cheng, Ming, Li, Yifeng, Guo, Yingjia, Yao, Chunfang, Gao, Zhirong, Yao   +5 more
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[Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene].

Zhonghua nei ke za zhi, 2021
Objective: To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1 gene (CEAS). Methods: Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study. The clinical manifestations, laboratory test, radiological and endoscopic
Q, Wang, H, Xu, Y, Li, Y P, Liu, D, Wu, W X, Zhou, H, Yang, W B, Xia, J M, Qian   +8 more
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Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy

Gene, 2014
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease characterized by digital clubbing, periostosis and pachydermia. Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene and solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene have been shown to be associated with PHO. Here, we described clinical
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
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[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2018
Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied. All exons of the SLCO2A1 and HPGD gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. To assess the damaging effects of missense mutations in silico, the online database, PolyPhen-2 and SIFT were ...
Ping, Jin, Qin, Zhang, Honghui, He, Weihao, Zhu, Xiaodan, Long, Zhaohui, Mo   +5 more
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A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy

Gene, 2013
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease that closely mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology. The study of PHO provides an opportunity to understand both the pathogenesis of hypertrophic osteoarthropathy and the functions of the underlying genes.
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
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Mutations in the prostaglandin transporter encoding geneSLCO2A1Cause primary hypertrophic osteoarthropathy and isolated digital clubbing

Human Mutation, 2012
Digital clubbing is usually secondary to different acquired diseases. Primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disorder with variable digital clubbing as the most prominent feature, subperiosteal new bone formation, and arthropathy.
Wenke, Seifert, Jirko, Kühnisch, Beyhan, Tüysüz, Christof, Specker, Ad, Brouwers, Denise, Horn   +5 more
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First case report of dichorionic diamniotic twins with chronic enteropathy associated with the SLCO2A1 gene

Clinical Journal of Gastroenterology
We report the case of twins diagnosed with chronic enteropathy associated with the SLCO2A1 gene (CEAS) based on characteristic ulcer findings, which required 8 years to diagnose. Both twins had similar symptoms, including anemia and growth failure but the gastrointestinal tract was not evaluated initially because of mild symptoms that were considered ...
Ryutaro Saura, Shin-ichiro Hagiwara, Keinosuke Hizuka, Nobuhiko Okamoto, Yuri Etani   +4 more
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