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Rare systemic diseases

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  1. Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causativ...

    Authors: Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan and Göran Dahllöf

    Citation: Orphanet Journal of Rare Diseases 2020 15:80

    Content type: Research

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  2. In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh wh...

    Authors: Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan and Daniel Coriu

    Citation: Orphanet Journal of Rare Diseases 2020 15:34

    Content type: Research

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  3. Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological si...

    Authors: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä and Sari Atula

    Citation: Orphanet Journal of Rare Diseases 2020 15:19

    Content type: Research

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  4. Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be dia...

    Authors: Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu and Ji-Hong Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:290

    Content type: Research

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  5. Adamantiades-Behçet’s Disease (ABD) is an immunological recurrent systemic vasculitis with a chronic course. We investigated the predictors of long-term flare-ups, poor outcomes and event-free survival in Chin...

    Authors: Liang Zhang, Yun Tian, Jing-Fen Ye, Chen-Hong Lin and Jian-Long Guan

    Citation: Orphanet Journal of Rare Diseases 2019 14:274

    Content type: Research

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  6. Gain-of-function pathogenic variants of the Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene contribute to the occurrence and development of a variety of human carcinomas through activation of phosphatidylinositol ...

    Authors: Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang and Jian Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:265

    Content type: Research

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  7. Systemic bevacizumab is a novel targeted anti-angiogenic therapy for high-output cardiac failure (HOCF) in hereditary hemorrhagic telangiectasia (HHT) but published data is limited. This survey-based study mea...

    Authors: Hanny Al-Samkari, Hasan A. Albitar, Scott E. Olitsky, Marianne S. Clancy and Vivek N. Iyer

    Citation: Orphanet Journal of Rare Diseases 2019 14:256

    Content type: Research

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  8. Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, ...

    Authors: Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz and Stefan Zschiedrich

    Citation: Orphanet Journal of Rare Diseases 2019 14:235

    Content type: Research

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  9. It is estimated that at present there are over 10 million rare disease patients in China. Recently an increased focus from policy perspective has been placed on rare diseases management. Improved disease defin...

    Authors: Xiaoshu Cai, Hui Yang, Georgi Z. Genchev, Hui Lu and Guangjun Yu

    Citation: Orphanet Journal of Rare Diseases 2019 14:233

    Content type: Research

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  11. 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

    Content type: Research

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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  15. 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

    Content type: Research

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  16. 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

    Content type: Research

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  17. 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

    Content type: Research

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Research

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  21. 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

    Content type: Research

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  22. 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

    Content type: Research

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  23. 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

    Content type: Research

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  24. 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

    Content type: Research

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  25. 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

    Content type: Research

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  26. 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

    Content type: Position statement

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  27. 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

    Content type: Review

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  29. 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

    Content type: Research

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  30. 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

    Content type: Research

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  31. 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

    Content type: Research

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  32. 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

    Content type: Research

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  33. 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

    Content type: Research

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  34. 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

    Content type: Letter to the Editor

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  35. 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

    Content type: Review

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  36. 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

    Content type: Review

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  37. 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

    Content type: Research

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  38. 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

    Content type: Research

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  39. 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

    Content type: Research

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  40. 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

    Content type: Research

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  41. 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

    Content type: Research

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  42. 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

    Content type: Research

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  43. 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

    Content type: Research

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  44. 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

    Content type: Research

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  45. 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

    Content type: Research

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  46. 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

    Content type: Research

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  47. 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

    Content type: Research

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  48. 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

    Content type: Research

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  49. 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

    Content type: Research

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  50. 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

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172