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  1. Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 ...

    Authors: Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong and Haibo Mei

    Citation: Orphanet Journal of Rare Diseases 2019 14:221

    Content type: Research

    Published on:

  2. 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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  3. Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoli...

    Authors: Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau and Oliver Semler

    Citation: Orphanet Journal of Rare Diseases 2019 14:219

    Content type: Research

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  4. Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhanci...

    Authors: Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:217

    Content type: Research

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  5. Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition, psychomotor retardation, and hyperphagia. Recombinant human ...

    Authors: Aram Yang, Jin-Ho Choi, Young Bae Sohn, Yunae Eom, Jiyoon Lee, Han-Wook Yoo and Dong-Kyu Jin

    Citation: Orphanet Journal of Rare Diseases 2019 14:216

    Content type: Research

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  6. Kaposiform lymphangiomatosis (KLA) has recently been distinguished as a novel subtype of generalized lymphatic anomaly (GLA) with foci of spindle endothelial cells. All cases of KLA involve multiple organs and...

    Authors: Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama and Toshiyuki Fukao

    Citation: Orphanet Journal of Rare Diseases 2019 14:215

    Content type: Research

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  7. The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 (

    Authors: Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier and Marc Ferré

    Citation: Orphanet Journal of Rare Diseases 2019 14:214

    Content type: Research

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  8. Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...

    Authors: Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger and Uwe Querfeld

    Citation: Orphanet Journal of Rare Diseases 2019 14:213

    Content type: Research

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  9. Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease res...

    Authors: Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes and Elin Haf Davies

    Citation: Orphanet Journal of Rare Diseases 2019 14:212

    Content type: Research

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  10. Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost an...

    Authors: Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos and Catarina Silva

    Citation: Orphanet Journal of Rare Diseases 2019 14:211

    Content type: Research

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  11. Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular dysplasia resulting in visceral arteriovenous malformations and smaller mucocutaneous telangiectasia. Most patients experience recurrent nosebleed...

    Authors: C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure…

    Citation: Orphanet Journal of Rare Diseases 2019 14:210

    Content type: Research

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  12. 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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  13. Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully unde...

    Authors: Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2019 14:208

    Content type: Research

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  14. Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective wa...

    Authors: Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2019 14:207

    Content type: Research

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  15. Sirolimus has been confirmed to be effective for lymphangioleiomyomatosis (LAM), a rare multisystem neoplastic disease in women. The long-term effects of sirolimus treatment for LAM, however, are largely unkno...

    Authors: Siqi Hu, Xiuxiu Wu, Wenshuai Xu, Xinlun Tian, Yanli Yang, Shao-Ting Wang, Song Liu, Xingxiang Xu and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2019 14:206

    Content type: Research

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  16. 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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  17. Rare diseases are one of the major challenges in the era of precision medicine and reflect the social security level of minority groups. This study aimed to investigate healthcare service utilization and healt...

    Authors: Rui Min, Xiaoyan Zhang, Pengqian Fang, Biyan Wang and He Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:204

    Content type: Research

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  18. The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles o...

    Authors: Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer and Laura E. Laróvere

    Citation: Orphanet Journal of Rare Diseases 2019 14:203

    Content type: Research

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  20. Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, includi...

    Authors: Eric T. Rush, Scott Moseley and Anna Petryk

    Citation: Orphanet Journal of Rare Diseases 2019 14:201

    Content type: Research

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  21. Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently omitted from the author list in the Acknowledgement...

    Authors: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson and Hélène Dollfus

    Citation: Orphanet Journal of Rare Diseases 2019 14:200

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2019 14:8

  22. The original version of this article [1] unfortunately included an error to an author’s name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been i...

    Authors: Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jordi Díaz-Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura…

    Citation: Orphanet Journal of Rare Diseases 2019 14:199

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2018 13:155

  23. Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman disease. We sought to determine the outcomes and clinical needs of ...

    Authors: Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro and Can Ficicioglu

    Citation: Orphanet Journal of Rare Diseases 2019 14:198

    Content type: Research

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  24. Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin p...

    Authors: Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters and Albena Jordanova

    Citation: Orphanet Journal of Rare Diseases 2019 14:197

    Content type: Research

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  25. Limited data exist about the clinical presentation, ideal therapy and outcomes of patients with hereditary hemorrhagic telangiectasia (HHT) who develop venous thromboembolism (VTE).

    Authors: Antoni Riera-Mestre, José María Mora-Luján, Javier Trujillo-Santos, Jorge Del Toro, José Antonio Nieto, José María Pedrajas, Raquel López-Reyes, Silvia Soler, Aitor Ballaz, Pau Cerdà and Manel Monreal

    Citation: Orphanet Journal of Rare Diseases 2019 14:196

    Content type: Research

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  26. Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies ...

    Authors: M. Fernanda Rozas, Felipe Benavides, Luis León and Gabriela M. Repetto

    Citation: Orphanet Journal of Rare Diseases 2019 14:195

    Content type: Research

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  27. Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents.

    Authors: Stefanie Witt, Beate Kolb, Janika Bloemeke, Klaus Mohnike, Monika Bullinger and Julia Quitmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:194

    Content type: Research

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  28. Recently an increasing number of digital tools to aid clinical work have been published. This study’s aim was to create an algorithm which can assist physicians as a “digital expert” with the differential diag...

    Authors: Ludwig Kraus, Olympia Kremmyda, Tatiana Bremova-Ertl, Sebastià Barceló, Katharina Feil and Michael Strupp

    Citation: Orphanet Journal of Rare Diseases 2019 14:193

    Content type: Research

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  29. SAPHO syndrome is a rare disease characterized by inflammatory lesions on skin and bones. Diversified manifestation and inadequate understanding of etiology has limited its diagnosis and treatment. The co-occu...

    Authors: Yuxiu Sun, Chen Li, Mengmeng Zhu, Shen Zhang, Yihan Cao, Qiao Yang, Pengfei Zhao, Guangrui Huang and Anlong Xu

    Citation: Orphanet Journal of Rare Diseases 2019 14:192

    Content type: Research

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  30. Hereditary angioedema (HAE) is a rare but serious condition characterized by unpredictable and recurrent attacks affecting the skin and mucosa. HAE has wide-ranging impacts on the health-related quality of lif...

    Authors: Shuang Liu, Xue Wang, Yingyang Xu, Qun Xu and Yuxiang Zhi

    Citation: Orphanet Journal of Rare Diseases 2019 14:191

    Content type: Research

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  31. Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CIS...

    Authors: Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen and Guohong Tian

    Citation: Orphanet Journal of Rare Diseases 2019 14:190

    Content type: Research

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  32. Due to unknown aetiology of Thromboangiitis obliterans (TAO), its effectively treating is challenging. However, angiogenesis induction is one of the acceptable treatments for TAO patients. Recently, we have no...

    Authors: Bahare Fazeli, Shayan Keramat, Ladan Assadi and Hossein Taheri

    Citation: Orphanet Journal of Rare Diseases 2019 14:189

    Content type: Letter to the Editor

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  33. Wolfram syndrome is a rare disorder associated with diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and vision loss, and neurodegeneration. Sleep complaints are common but have not been stu...

    Authors: Amy Licis, Gabriel Davis, Sarah A. Eisenstein, Heather M. Lugar and Tamara Hershey

    Citation: Orphanet Journal of Rare Diseases 2019 14:188

    Content type: Research

    Published on:

  34. To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluor...

    Authors: Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2019 14:187

    Content type: Research

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  35. Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages. Ad...

    Authors: V. Vanhoorne, E. Peeters, I. Van Tongelen, K. Boussery, E. Wynendaele, B. De Spiegeleer, J. P. Remon and C. Vervaet

    Citation: Orphanet Journal of Rare Diseases 2019 14:186

    Content type: Research

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  36. Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. To date, the economic burden of W...

    Authors: Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett and Richard Thompson

    Citation: Orphanet Journal of Rare Diseases 2019 14:185

    Content type: Research

    Published on:

  37. Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six. Defective RNASET2 leads t...

    Authors: Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi and Ali Reza Tavasoli

    Citation: Orphanet Journal of Rare Diseases 2019 14:184

    Content type: Letter to the Editor

    Published on:

  38. Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein ...

    Authors: Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has and Marcela Del Rio

    Citation: Orphanet Journal of Rare Diseases 2019 14:183

    Content type: Research

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  39. Inherited Factor XIII deficiency (FXIIID) is one of the most severe and under-diagnosed rare bleeding disorders. Only 5 large deletions involving one or more exons in F13A1 have been reported, and lacking of mult...

    Authors: Siyu Ma, Changming Chen, Qian Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Yan Liu and Qiulan Ding

    Citation: Orphanet Journal of Rare Diseases 2019 14:182

    Content type: Research

    Published on:

  40. Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizur...

    Authors: K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder and F. Rutsch

    Citation: Orphanet Journal of Rare Diseases 2019 14:181

    Content type: Research

    Published on:

  41. A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodi...

    Authors: Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson…

    Citation: Orphanet Journal of Rare Diseases 2019 14:180

    Content type: Position statement

    Published on:

  42. The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proxi...

    Authors: Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr…

    Citation: Orphanet Journal of Rare Diseases 2019 14:179

    Content type: Research

    Published on:

  43. 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

    Published on:

  44. Although metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients’ adherence and satisfaction with treatment have never been evaluated. The 20 patients w...

    Authors: Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse and Corinne Vigouroux

    Citation: Orphanet Journal of Rare Diseases 2019 14:177

    Content type: Research

    Published on:

  45. Within the 21 APEC economies alone, there are an estimated 200 million individuals living with a rare disease. As such, health data on these individuals, and hence patient registries, are vital. However, regis...

    Authors: Matthew I. Bellgard, Tom Snelling and James M. McGree

    Citation: Orphanet Journal of Rare Diseases 2019 14:176

    Content type: Position statement

    Published on:

  46. The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge ...

    Authors: Sandra Courbier, Rebecca Dimond and Virginie Bros-Facer

    Citation: Orphanet Journal of Rare Diseases 2019 14:175

    Content type: Research

    Published on:

  47. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).

    Authors: Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender and William R. Lenderking

    Citation: Orphanet Journal of Rare Diseases 2019 14:174

    Content type: Research

    Published on:

  48. 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

    Published on:

  49. According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, t...

    Authors: Dalibor Stanimirovic, Eva Murko, Tadej Battelino and Urh Groselj

    Citation: Orphanet Journal of Rare Diseases 2019 14:172

    Content type: Research

    Published on:

  50. Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations,...

    Authors: Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper and Pablo Garcia-Pavia

    Citation: Orphanet Journal of Rare Diseases 2019 14:170

    Content type: Letter to the Editor

    Published on:

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172