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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 +5 more
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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 +5 more
openaire +2 more sources
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 +8 more
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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 +8 more
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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 +5 more
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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 +5 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, 2018Two 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 +5 more
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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 +4 more
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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 +4 more
openaire +2 more sources
The Role of Genetic Mutations in the HPGD & SLCO2A1 Genes in Pachydermoperiostosis Syndrome
Journal of Genetic Medicine and Gene TherapyPachydermoperiostosis, also known as Primary Hypertrophic Osteoarthropathy (PHO), is a rare genetic disorder. The three main features are: enlarged fingertips (clubbing), thickened facial skin (pachydermia), and excessive sweating (hyperhidrosis). PHO is characterized by problems with skin and bone growth.
Asadi Shahin +2 more
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[Chronic enteropathy associated with SLCO2A1 gene (CEAS)].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology, 2022Junji, Umeno +2 more
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Journal of Crohn's and Colitis
Abstract Background Eight inflamed gastrointestinal tissue samples and one non-inflamed sample from six CEAS patients, along with three healthy controls, were analyzed using single-cell RNA sequencing (scRNA-seq). Cellular composition, transcriptional profiles, and intercellular communication networks
Y Dong +6 more
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Abstract Background Eight inflamed gastrointestinal tissue samples and one non-inflamed sample from six CEAS patients, along with three healthy controls, were analyzed using single-cell RNA sequencing (scRNA-seq). Cellular composition, transcriptional profiles, and intercellular communication networks
Y Dong +6 more
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Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1
Modern Rheumatology Case Reports, 2021Kazuhiko Nakabayashi +2 more
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