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Rare gastrointestinal diseases

This section addresses the exchange of experiences and reports on advances in diagnosing and treating digestive conditions which share common clinical features but have special pathogenesis. As an example, inflammatory bowel disease is more and more common in the pediatric population. However, its very early onset (especially before 5 years of age) frequently has a monogenetic (several phenotypes have been described) that require different therapeutic approaches from later onset. This is also true for other conditions and we hope to help disseminate this knowledge. Articles on these conditions should include a strong translational component. Detailed reviews on rare GI conditions are also welcome.

  1. Peutz-Jeghers Syndrome (PJS) is known as a rare inherited polyposis due to the malfunction of serine/threonine kinase gene LKB1. However, not all of PJS patients carry LKB1 germline mutation. Previous researches ...

    Authors: Teng Li, Wensheng Lin, Yilei Zhao, Jianping Zhu, Tao Sun and Li Ren

    Citation: Orphanet Journal of Rare Diseases 2020 15:208

    Content type: Research

    Published on:

  2. Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding ...

    Authors: Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle…

    Citation: Orphanet Journal of Rare Diseases 2020 15:164

    Content type: Position statement

    Published on:

  4. Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI compli...

    Authors: Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia and Dong Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:297

    Content type: Research

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  5. Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and...

    Authors: Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello and Isabella Ceccherini

    Citation: Orphanet Journal of Rare Diseases 2019 14:270

    Content type: Research

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  6. Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disea...

    Authors: Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai and Long Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:237

    Content type: Research

    Published on:

  7. Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and common man...

    Authors: Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran and Antonio Gasbarrini

    Citation: Orphanet Journal of Rare Diseases 2019 14:130

    Content type: Review

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  8. MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronecti...

    Authors: Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar and Akhmad Makhmudi

    Citation: Orphanet Journal of Rare Diseases 2019 14:5

    Content type: Research

    Published on:

  10. Hirschsprung’s disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung’s dise...

    Authors: Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård and Niels Qvist

    Citation: Orphanet Journal of Rare Diseases 2017 12:116

    Content type: Research

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  11. Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically ...

    Authors: Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang and Wei Cai

    Citation: Orphanet Journal of Rare Diseases 2017 12:62

    Content type: Letter to the Editor

    Published on:

  12. Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vit...

    Authors: Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux and Noël Peretti

    Citation: Orphanet Journal of Rare Diseases 2016 11:114

    Content type: Research

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  13. Type 1 autoimmune pancreatitis (AIP) is clinically characterized by a response to steroid therapy. Despite having a favorable prognosis, AIP has a high relapse rate and factors predicting relapse in AIP patien...

    Authors: Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda and Yoichi Hiasa

    Citation: Orphanet Journal of Rare Diseases 2016 11:103

    Content type: Research

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  14. Idiopathic achalasia is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. Patients with acha...

    Authors: Dhyanesh A. Patel, Hannah P. Kim, Jerry S. Zifodya and Michael F. Vaezi

    Citation: Orphanet Journal of Rare Diseases 2015 10:89

    Content type: Review

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  15. The aim of the present national prospective population-based study was to assess the early morbidity of esophageal atresia (EA).

    Authors: Anne Schneider, Sébastien Blanc, Arnaud Bonnard, Naziha Khen-Dunlop, Frédéric Auber, Anne Breton, Guillaume Podevin, Rony Sfeir, Virginie Fouquet, Catherine Jacquier, Jean-Louis Lemelle, Frédéric Lavrand, François Becmeur, Thierry Petit, Marie-Laurence Poli-Merol, Frédéric Elbaz…

    Citation: Orphanet Journal of Rare Diseases 2014 9:206

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172