Skip to main content

Advertisement

Rare systemic diseases

  1. Content type: Research

    A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influ...

    Authors: Mark P. Connolly, Saswat Panda, Julien Patris and Bouke P. C. Hazenberg

    Citation: Orphanet Journal of Rare Diseases 2019 14:220

    Published on:

  2. Content type: Research

    Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is ...

    Authors: Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini and Alessandro Lambiase

    Citation: Orphanet Journal of Rare Diseases 2019 14:218

    Published on:

  3. Content type: Research

    Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigme...

    Authors: Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer and Arndt Rolfs

    Citation: Orphanet Journal of Rare Diseases 2019 14:209

    Published on:

  4. Content type: Research

    Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and ...

    Authors: Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong and Dmitry Khodyakov

    Citation: Orphanet Journal of Rare Diseases 2019 14:205

    Published on:

  5. Content type: Research

    Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pa...

    Authors: Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang and Xiaowei Chen

    Citation: Orphanet Journal of Rare Diseases 2019 14:178

    Published on:

  6. Content type: Research

    Castleman disease (CD) describes a group of rare and poorly understood lymphoproliferative disorders that include unicentric CD (UCD), Human Herpes Virus-8 (HHV8)-associated multicentric CD (HHV8 + MCD), and H...

    Authors: Alexander Suarez, Curran Reilly and David C. Fajgenbaum

    Citation: Orphanet Journal of Rare Diseases 2019 14:173

    Published on:

  7. Content type: Research

    Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of g...

    Authors: Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang and Yiping Shen

    Citation: Orphanet Journal of Rare Diseases 2019 14:144

    Published on:

  8. Content type: Research

    Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to ...

    Authors: Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto and Toshiyuki Fukao

    Citation: Orphanet Journal of Rare Diseases 2019 14:141

    Published on:

  9. Content type: Research

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor forma...

    Authors: Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra and Vicente Villanueva

    Citation: Orphanet Journal of Rare Diseases 2019 14:91

    Published on:

  10. Content type: Research

    The Clinical features of vascular Behcet’s disease (BD) are not well understood because there are few studies. Our study aimed to investigate characteristics of vascular BD in both genders in different age gro...

    Authors: Yong Chen, Jian-Fei Cai, Chen-Hong Lin and Jian-Long Guan

    Citation: Orphanet Journal of Rare Diseases 2019 14:88

    Published on:

  11. Content type: Research

    Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as...

    Authors: Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil…

    Citation: Orphanet Journal of Rare Diseases 2019 14:82

    Published on:

  12. Content type: Research

    Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide and bevac...

    Authors: Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D. Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod and Claire L. Shovlin

    Citation: Orphanet Journal of Rare Diseases 2019 14:28

    Published on:

  13. Content type: Research

    Real-world data on usage and associated outcomes with hereditary angioedema (HAE)-specific medications introduced to the United States (US) market since 2009 are very limited. The purpose of this retrospective...

    Authors: Marc A Riedl, Aleena Banerji, Michael E Manning, Earl Burrell, Namita Joshi, Dipen Patel, Thomas Machnig, Ming-Hui Tai and Douglas J Watson

    Citation: Orphanet Journal of Rare Diseases 2018 13:180

    Published on:

  14. Content type: Research

    Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To d...

    Authors: Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao…

    Citation: Orphanet Journal of Rare Diseases 2018 13:178

    Published on:

  15. Content type: Research

    Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the ...

    Authors: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J. Chris Kingswood, John A. Lawson…

    Citation: Orphanet Journal of Rare Diseases 2018 13:157

    Published on:

  16. Content type: Position statement

    Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver...

    Authors: Claire L. Shovlin, Elisabetta Buscarini, Anette D. Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini and Sophie Dupuis-Girod

    Citation: Orphanet Journal of Rare Diseases 2018 13:136

    Published on:

  17. Content type: Review

    Neurofibromatosis type 1 (NF1) is one of the most common inherited syndromes. The literature on craniofacial alterations associated with NF1 has been limited and partially contradictory. This review is based o...

    Authors: Vivian Visnapuu, Sirkku Peltonen, Lotta Alivuotila, Risto-Pekka Happonen and Juha Peltonen

    Citation: Orphanet Journal of Rare Diseases 2018 13:131

    Published on:

  19. Content type: Research

    Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, su...

    Authors: Ronnaug Saeves, Finn Strøm, Leiv Sandvik and Hilde Nordgarden

    Citation: Orphanet Journal of Rare Diseases 2018 13:64

    Published on:

  20. Content type: Research

    Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease’s societal impact is limited. Canakinumab is used in increasing frequency for the treatme...

    Authors: Catharina M. Mulders-Manders, Tim A. Kanters, Paul L. A. van Daele, Esther Hoppenreijs, G. Elizabeth Legger, Jan A. M. van Laar, Anna Simon and Leona Hakkaart-van Roijen

    Citation: Orphanet Journal of Rare Diseases 2018 13:59

    Published on:

  21. Content type: Research

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which ...

    Authors: Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi and Yushi Zhang

    Citation: Orphanet Journal of Rare Diseases 2018 13:43

    Published on:

  22. Content type: Research

    There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently ...

    Authors: Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan and Huri Ozdogan

    Citation: Orphanet Journal of Rare Diseases 2017 12:105

    Published on:

  23. Content type: Research

    Vinblastine is the standard treatment for children with Langerhans cell histiocytosis (LCH). Whether this treatment could be extended to adults with LCH is questionable. This retrospective multicenter study in...

    Authors: Abdellatif Tazi, Gwenaël Lorillon, Julien Haroche, Antoine Neel, Stéphane Dominique, Achille Aouba, Jean-David Bouaziz, Constance de Margerie-Melon, Emmanuelle Bugnet, Vincent Cottin, Thibault Comont, Christian Lavigne, Jean-Emmanuel Kahn, Jean Donadieu and Sylvie Chevret

    Citation: Orphanet Journal of Rare Diseases 2017 12:95

    Published on:

  24. Content type: Letter to the Editor

    Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links ...

    Authors: Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan and Claire L. Shovlin

    Citation: Orphanet Journal of Rare Diseases 2017 12:60

    Published on:

  25. Content type: Review

    Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians’ def...

    Authors: Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano and Isabelle Koné-Paut

    Citation: Orphanet Journal of Rare Diseases 2017 12:54

    Published on:

  26. Content type: Review

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is impl...

    Authors: David N. Franz and Jamie K. Capal

    Citation: Orphanet Journal of Rare Diseases 2017 12:51

    Published on:

  27. Content type: Research

    Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality ...

    Authors: Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie and Michelle K. White

    Citation: Orphanet Journal of Rare Diseases 2017 12:15

    Published on:

  28. Content type: Research

    Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...

    Authors: Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen and John Rosendahl Østergaard

    Citation: Orphanet Journal of Rare Diseases 2017 12:4

    Published on:

  29. Content type: Research

    The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.

    Authors: Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn…

    Citation: Orphanet Journal of Rare Diseases 2016 11:165

    Published on:

  30. Content type: Research

    Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutat...

    Authors: Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller and Anders Green

    Citation: Orphanet Journal of Rare Diseases 2016 11:157

    Published on:

  31. Content type: Research

    Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options.

    Authors: Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone and Martha Feucht

    Citation: Orphanet Journal of Rare Diseases 2016 11:145

    Published on:

  32. Content type: Research

    Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...

    Authors: Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec and Wojciech Mlynarski

    Citation: Orphanet Journal of Rare Diseases 2016 11:129

    Published on:

  33. Content type: Research

    The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...

    Authors: Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser and René Wildenauer

    Citation: Orphanet Journal of Rare Diseases 2016 11:111

    Published on:

  34. Content type: Research

    POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm. Hypogonadism is the most common endocrine abnormality in POEMS syndrome. There is no data about improvement of hypogo...

    Authors: Hongbo Yang, Xufei Huang, Qianqian Cai, Chen Wang, Xinxin Cao, Daobin Zhou and Jian Li

    Citation: Orphanet Journal of Rare Diseases 2016 11:80

    Published on:

  35. Content type: Research

    Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor...

    Authors: Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier and Walter A. Wuillemin

    Citation: Orphanet Journal of Rare Diseases 2016 11:43

    Published on:

  36. Content type: Research

    Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisyste...

    Authors: Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal…

    Citation: Orphanet Journal of Rare Diseases 2016 11:26

    Published on:

  37. Content type: Research

    Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...

    Authors: Kristian A. Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R. Østergaard, Niels H. Andersen and Claus H. Gravholt

    Citation: Orphanet Journal of Rare Diseases 2015 10:153

    Published on:

  38. Content type: Research

    Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...

    Authors: Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett and Tarekegn Geberhiwot

    Citation: Orphanet Journal of Rare Diseases 2015 10:149

    Published on:

  39. Content type: Research

    Behçet’s Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patient...

    Authors: Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier and Farida Fortune

    Citation: Orphanet Journal of Rare Diseases 2015 10:117

    Published on:

  40. Content type: Research

    Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the safety, tolerability, pharmacokinetics, and pharma...

    Authors: Ole B Suhr, Teresa Coelho, Juan Buades, Jean Pouget, Isabel Conceicao, John Berk, Hartmut Schmidt, Márcia Waddington-Cruz, Josep M. Campistol, Brian R. Bettencourt, Akshay Vaishnaw, Jared Gollob and David Adams

    Citation: Orphanet Journal of Rare Diseases 2015 10:109

    Published on:

  41. Content type: Research

    Relapsing polychondritis is a rare disease characterised by inflammation of cartilaginous and proteoglycan rich structures. As there are only a few published single centre case series from all across the world...

    Authors: Aman Sharma, Arjun Dutt Law, Pradeep Bambery, Vinay Sagar, Ajay Wanchu, Varun Dhir, Rajesh Vijayvergiya, Kusum Sharma, Ashok Gupta, Naresh K Panda and Surjit Singh

    Citation: Orphanet Journal of Rare Diseases 2014 9:198

    Published on:

  42. Content type: Research

    There remains a critical need for more effective, safe, long-term treatments for cystic fibrosis (CF). Any successful therapeutic strategy designed to combat the respiratory pathology of this condition must ad...

    Authors: Cedric Charrier, Catherine Rodger, Jennifer Robertson, Aleksandra Kowalczuk, Nicola Shand, Douglas Fraser-Pitt, Derry Mercer and Deborah O’Neil

    Citation: Orphanet Journal of Rare Diseases 2014 9:189

    Published on:

  43. Content type: Research

    Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysio...

    Authors: John C Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J de Vries, Carla Fladrowski, Christoph Hertzberg, Anna C Jansen, Sergiusz Jozwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères…

    Citation: Orphanet Journal of Rare Diseases 2014 9:182

    Published on:

Advertisement

Orphanet Journal of Rare Diseases

ISSN: 1750-1172