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  1. Inherited heart disease represent a very heterogenous group of cardiac disorders, characterized by inherited, acquired, and often rare disorders affecting the heart muscle (cardiomyopathies) or the cardiac ele...

    Authors: Giuseppe Limongelli and Lia Crotti
    Citation: Orphanet Journal of Rare Diseases 2020 15:157
  2. Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur...

    Authors: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang and Qi Li
    Citation: Orphanet Journal of Rare Diseases 2020 15:155
  3. Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mor...

    Authors: Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang and Zhi-Jun Zhu
    Citation: Orphanet Journal of Rare Diseases 2020 15:154
  4. Extra-pelvic intravenous leiomyomatosis (IVL) extending into inferior vena cava (IVC) or heart (i.e. intracardiac leiomyomatosis, ICL) is an extremely rare benign disease. No consensus has been reached on the ...

    Authors: Hua Li, Jing Xu, Qiaowei Lin, Yong Zhang, Yun Zhao, Hanxing Tong, Ruiqin Tu, Demin Xu, Chunsheng Wang and Weiqi Lu
    Citation: Orphanet Journal of Rare Diseases 2020 15:153
  5. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointesti...

    Authors: Kimberly Goodspeed, Geraldine Bliss and Diane Linnehan
    Citation: Orphanet Journal of Rare Diseases 2020 15:152
  6. Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschspr...

    Authors: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi…
    Citation: Orphanet Journal of Rare Diseases 2020 15:151
  7. Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF ...

    Authors: Keqiang Liu, Wenshuai Xu, Meng Xiao, Xinyue Zhao, Chun Bian, Qianli Zhang, Jiaxing Song, Keqi Chen, Xinlun Tian, Yaping Liu, Kai-Feng Xu and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2020 15:150
  8. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Consequently, patients undergo a multidisciplinary treatment that often requires intensive use of medical resources. This study provid...

    Authors: Erik Schönfelder, Alma Osmanovic, Lars Hendrik Müschen, Susanne Petri and Olivia Schreiber-Katz
    Citation: Orphanet Journal of Rare Diseases 2020 15:149
  9. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in F...

    Authors: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier…
    Citation: Orphanet Journal of Rare Diseases 2020 15:148
  10. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.

    Authors: Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen and Li-Ping Zou
    Citation: Orphanet Journal of Rare Diseases 2020 15:147
  11. Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about h...

    Authors: Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield and Robert Hoehndorf
    Citation: Orphanet Journal of Rare Diseases 2020 15:146
  12. Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that in...

    Authors: Julia Schaefer, Moritz Lehne, Josef Schepers, Fabian Prasser and Sylvia Thun
    Citation: Orphanet Journal of Rare Diseases 2020 15:145
  13. With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disord...

    Authors: Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira and Olaf Hiort
    Citation: Orphanet Journal of Rare Diseases 2020 15:144
  14. Late onset Pompe disease (LOPD) is a lysosomal neuromuscular disorder which can progressively impair the patients’ exercise tolerance, motor and respiratory functions, and quality of life. The available enzyme...

    Authors: Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, Mauro Marzorati, Simone Porcelli, Annarita Tullio, Anna Bacco, Simona Bertoli, Andrea Dardis, Lea Biasutti, Maria Barbara Pasanisi, Grazia Devigili and Bruno Bembi
    Citation: Orphanet Journal of Rare Diseases 2020 15:143
  15. Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence o...

    Authors: Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has and Christine Bodemer
    Citation: Orphanet Journal of Rare Diseases 2020 15:142
  16. Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to es...

    Authors: Salvatore Crisafulli, Janet Sultana, Andrea Fontana, Francesco Salvo, Sonia Messina and Gianluca Trifirò
    Citation: Orphanet Journal of Rare Diseases 2020 15:141
  17. Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare d...

    Authors: Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman and Neil Oxborrow
    Citation: Orphanet Journal of Rare Diseases 2020 15:140
  18. Alström syndrome (ALMS) is a rare ciliopathy characterised by early onset insulin resistance, obesity, and dyslipidaemia and is a model for diseases that have huge social, health and economic impact. Cardiomyo...

    Authors: Shanat Baig, Rory Dowd, Nicola C. Edwards, James Hodson, Larissa Fabritz, Ravi Vijapurapu, Boyang Liu, Tarekegn Geberhiwot and Richard P. Steeds
    Citation: Orphanet Journal of Rare Diseases 2020 15:139
  19. Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are dete...

    Authors: Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía and Antoni Riera-Mestre
    Citation: Orphanet Journal of Rare Diseases 2020 15:138
  20. Hemophilia, a high-cost disease, is the only rare disease covered by basic medical insurance in all province of China. However, very few studies have estimated the medical expenditure of patients with this rar...

    Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min
    Citation: Orphanet Journal of Rare Diseases 2020 15:137

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:239

  21. Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional stud...

    Authors: Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier and Laurence Vaivre-Douret
    Citation: Orphanet Journal of Rare Diseases 2020 15:136
  22. Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Various dietary strategies have been used for weight management for people with PWS.

    Authors: Grace Felix, Eric Kossoff, Bobbie Barron, Caitlin Krekel, Elizabeth Getzoff Testa and Ann Scheimann
    Citation: Orphanet Journal of Rare Diseases 2020 15:135
  23. Over the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need for clinical research in this area to be patient-centered. However, t...

    Authors: Sally Lanar, Catherine Acquadro, James Seaton, Isabelle Savre and Benoit Arnould
    Citation: Orphanet Journal of Rare Diseases 2020 15:134
  24. Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprec...

    Authors: Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta and Luisa-María Botella
    Citation: Orphanet Journal of Rare Diseases 2020 15:132
  25. Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the a...

    Authors: Takashi Hatano, Yuki Ohno, Yu Imai, Jun Moritake, Katsuhisa Endo, Mayumi Tamari and Shin Egawa
    Citation: Orphanet Journal of Rare Diseases 2020 15:133
  26. DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic...

    Authors: Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun and Xiaochuan Wang
    Citation: Orphanet Journal of Rare Diseases 2020 15:131
  27. The analysis of the main features of randomized controlled trials (RCTs) on ANCA-associated vasculitis (AAV) can inform future study design.

    Authors: Michele Iudici, Xavier Puéchal, Alejandro Brigante, Ignacio Atal and Cem Gabay
    Citation: Orphanet Journal of Rare Diseases 2020 15:130
  28. Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies asso...

    Authors: Tenghui Wu, Fei Yin, Shiqi Guang, Fang He, Li Yang and Jing Peng
    Citation: Orphanet Journal of Rare Diseases 2020 15:129
  29. Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder...

    Authors: Lidiia Zhytnik, Kadri Simm, Andres Salumets, Maire Peters, Aare Märtson and Katre Maasalu
    Citation: Orphanet Journal of Rare Diseases 2020 15:128
  30. Many treatments developed for rare diseases will have an Orphan Medicinal Product (OMP) designation, indicating that they are likely to deliver benefit in an area of high unmet need. Their approval may be base...

    Authors: Lieven Annemans and Amr Makady
    Citation: Orphanet Journal of Rare Diseases 2020 15:127
  31. Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance ...

    Authors: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal…
    Citation: Orphanet Journal of Rare Diseases 2020 15:126

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:202

  32. A guide of patient selection for establishing the diagnosis of lymphangioleiomyomatosis (LAM) by transbronchial lung biopsy (TBLB) has not been established, although the pathological confirmation of LAM by lun...

    Authors: Shouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, Keiko Muraki, Tetsutaro Nagaoka, Koichi Nishino, Yasuhito Sekimoto, Shinichi Sasaki, Kazuhisa Takahashi and Kuniaki Seyama
    Citation: Orphanet Journal of Rare Diseases 2020 15:125
  33. Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...

    Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer and Susanne Pitz
    Citation: Orphanet Journal of Rare Diseases 2020 15:124
  34. Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...

    Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum
    Citation: Orphanet Journal of Rare Diseases 2020 15:123

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:342

  35. Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key...

    Authors: Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda and Junya Toguchida
    Citation: Orphanet Journal of Rare Diseases 2020 15:122
  36. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients....

    Authors: Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan and Lan Zhu
    Citation: Orphanet Journal of Rare Diseases 2020 15:121
  37. Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple...

    Authors: C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy…
    Citation: Orphanet Journal of Rare Diseases 2020 15:120
  38. Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degener...

    Authors: Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories and Amets Sáenz
    Citation: Orphanet Journal of Rare Diseases 2020 15:119
  39. Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this...

    Authors: Ilse Peterson, Rosángel Cruz, Fatou Sarr, Ann Marie Stanley and Jill Jarecki
    Citation: Orphanet Journal of Rare Diseases 2020 15:118
  40. Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little ...

    Authors: Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, Nick Meade, Maria Newman, Stuart Ralston, Elaine Rush, Sheela Upadhyaya, Sandra Regan, Laura Watts, Jennifer Walsh, Paul White…
    Citation: Orphanet Journal of Rare Diseases 2020 15:117
  41. Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular m...

    Authors: Ling-shan Liu, Xiao Zhang, Hao Zhao, Xue-min Gao, Dao-bin Zhou, Rong-ping Dai and Jian Li
    Citation: Orphanet Journal of Rare Diseases 2020 15:116
  42. Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as pat...

    Authors: Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze and Christina Lampe
    Citation: Orphanet Journal of Rare Diseases 2020 15:114
  43. Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-relate...

    Authors: Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling and Joshua J. Todd
    Citation: Orphanet Journal of Rare Diseases 2020 15:113
  44. Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disor...

    Authors: Jia Zhang, Yuan Sun, Xiaodong Shi, Rui Zhang, Yini Wang, Juan Xiao, Jing Cao, Zhuo Gao, Jingshi Wang, Lin Wu, Wei Wei and Zhao Wang
    Citation: Orphanet Journal of Rare Diseases 2020 15:112
  45. Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in l...

    Authors: Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan and Duangrurdee Wattanasirichaigoon
    Citation: Orphanet Journal of Rare Diseases 2020 15:111
  46. The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reum...

    Authors: Cristina Ponte, Nikita Khmelinskii, Vítor Teixeira, Karine Luz, Daniela Peixoto, Marília Rodrigues, Mariana Luís, Lídia Teixeira, Sandra Sousa, Nathalie Madeira, Joana A. Aleixo, Teresa Pedrosa, Sofia Serra, Raquel Campanilho-Marques, Walter Castelão, Ana Cordeiro…
    Citation: Orphanet Journal of Rare Diseases 2020 15:110
  47. Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-...

    Authors: Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem and Fowzan S. Alkuraya
    Citation: Orphanet Journal of Rare Diseases 2020 15:109
  48. Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF

    Authors: Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni and Tieliu Shi
    Citation: Orphanet Journal of Rare Diseases 2020 15:108