Skip to main content

Articles

Page 34 of 81

  1. Tuberous sclerosis complex (TSC) is a genetic disorder that cause tumors to form in many organs. These lesions may lead to epilepsy, autism, developmental delay, renal, and pulmonary failure. Loss of function ...

    Authors: Yiyang Lu, Erik Y. Zhang, Jie Liu and Jane J. Yu
    Citation: Orphanet Journal of Rare Diseases 2020 15:209
  2. 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
  3. Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes.

    Authors: Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko and Marta Corton
    Citation: Orphanet Journal of Rare Diseases 2020 15:207
  4. Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...

    Authors: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann…
    Citation: Orphanet Journal of Rare Diseases 2020 15:206

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:145

  5. Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somat...

    Authors: Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim and Jung Min Ko
    Citation: Orphanet Journal of Rare Diseases 2020 15:205
  6. Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants w...

    Authors: Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer IV, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou and Howard M. Saal
    Citation: Orphanet Journal of Rare Diseases 2020 15:204
  7. Extensive studies in the past 30 years have established that cyclin-dependent kinases (CDKs) exert many diverse, important functions in a number of molecular and cellular processes that are at play during deve...

    Authors: Pierre Colas
    Citation: Orphanet Journal of Rare Diseases 2020 15:203
  8. An amendment to this paper has been published and can be accessed via the original article.

    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 15:202

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:126

  9. Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast,...

    Authors: Ilaria Baldelli, Alessio Baccarani, Chiara Barone, Francesca Bedeschi, Sebastiano Bianca, Olga Calabrese, Marco Castori, Nunzio Catena, Massimo Corain, Sara Costanzo, Giacomo De Paoli Barbato, Santa De Stefano, Maria Teresa Divizia, Francesco Feletti, Matteo Formica, Mario Lando…
    Citation: Orphanet Journal of Rare Diseases 2020 15:201
  10. Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

    Authors: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani…
    Citation: Orphanet Journal of Rare Diseases 2020 15:171

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:230

  11. Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients...

    Authors: Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng…
    Citation: Orphanet Journal of Rare Diseases 2020 15:200
  12. As part of a late onset GM2 gangliosidosis natural history study, digital health technology was utilized to monitor a group of patients remotely between hospital visits. This approach was explored as a means o...

    Authors: Elin Haf Davies, Jean Johnston, Camilo Toro and Cynthia J. Tifft
    Citation: Orphanet Journal of Rare Diseases 2020 15:199
  13. In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich’s Ataxia (FRDA), a genetic disorder usuall...

    Authors: Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz…
    Citation: Orphanet Journal of Rare Diseases 2020 15:198
  14. The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Class...

    Authors: Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli and Marina Colombi
    Citation: Orphanet Journal of Rare Diseases 2020 15:197
  15. Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related preva...

    Authors: Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone and Maria Alice Donati
    Citation: Orphanet Journal of Rare Diseases 2020 15:196
  16. INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6. The downstream enzyme, iPLA2, plays a critical role in cell membrane homeostasis by helping to regulate leve...

    Authors: Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx and Peter Milner
    Citation: Orphanet Journal of Rare Diseases 2020 15:195
  17. Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval. Despite the possible benefits for patients, EAPs present several challen...

    Authors: Petra Kiefer, Janbernd Kirschner, Astrid Pechmann and Thorsten Langer
    Citation: Orphanet Journal of Rare Diseases 2020 15:194
  18. Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heter...

    Authors: Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo and Edward C. Hsiao
    Citation: Orphanet Journal of Rare Diseases 2020 15:193
  19. Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver trans...

    Authors: Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito…
    Citation: Orphanet Journal of Rare Diseases 2020 15:169
  20. In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a ...

    Authors: Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley and Joseph Gleeson
    Citation: Orphanet Journal of Rare Diseases 2020 15:191
  21. Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control...

    Authors: Dedee F. Murrell, Amy S. Paller, Christine Bodemer, John Browning, Milos Nikolic, Jay A. Barth, Hjalmar Lagast, Eva Krusinska and Allen Reha
    Citation: Orphanet Journal of Rare Diseases 2020 15:190
  22. There is increasing recognition that conventional appraisal approaches may be unsuitable for assessing the value rare disease treatments (RDTs). This research examines what supplemental appraisal/reimbursement...

    Authors: Elena Nicod, Amanda Whittal, Michael Drummond and Karen Facey
    Citation: Orphanet Journal of Rare Diseases 2020 15:189
  23. Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative ro...

    Authors: Lele Li, Chang Su, Lijun Fan, Fenqi Gao, Xuejun Liang and Chunxiu Gong
    Citation: Orphanet Journal of Rare Diseases 2020 15:188
  24. Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofib...

    Authors: Christina Bergqvist, François Hemery, Salah Ferkal and Pierre Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2020 15:186
  25. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent...

    Authors: Joan D. Beckman, Quefeng Li, Samuel T. Hester, Ofri Leitner, Karen L. Smith and Raj S. Kasthuri
    Citation: Orphanet Journal of Rare Diseases 2020 15:185
  26. NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, the...

    Authors: Xiao-Hong Xie, Li-Qiang Wang, Yin-Yin Qin, Xin-Qing Lin, Zhan-Hong Xie, Ming Liu, Jie-Xia Zhang, Ming Ouyang, Jun Liu, Ying-Ying Gu, Shi-Yue Li and Cheng-Zhi Zhou
    Citation: Orphanet Journal of Rare Diseases 2020 15:183
  27. Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...

    Authors: Christine Prodinger, Anja Diem, Katherina Ude-Schoder, Josefina Piñón-Hofbauer, Sophie Kitzmueller, Johann W. Bauer and Martin Laimer
    Citation: Orphanet Journal of Rare Diseases 2020 15:182
  28. Autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (ANM-SRP) is regarded as refractory myositis, whereby some patients respond poorly to conventional immunosuppression and require...

    Authors: Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang and Yun Yuan
    Citation: Orphanet Journal of Rare Diseases 2020 15:181
  29. Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...

    Authors: Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau…
    Citation: Orphanet Journal of Rare Diseases 2020 15:180
  30. Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of tre...

    Authors: Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob and Ole B. Suhr
    Citation: Orphanet Journal of Rare Diseases 2020 15:179
  31. Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare disease...

    Authors: Jeffrey A. Glassberg, Elizabeth A. Linton, Katrina Burson, Tabitha Hendershot, Joseph Telfair, Julie Kanter, Victor R. Gordeuk, Allison A. King, Cathy L. Melvin, Nirmish Shah, Jane S. Hankins, Axel Yannick Epié and Lynne D. Richardson
    Citation: Orphanet Journal of Rare Diseases 2020 15:178
  32. Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of th...

    Authors: Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, Seuwandi Basnayake, Chamila Epa, Pradeepa Dilrukshi, Maheshaka Wijayawardena, Angela A. Anthony, Rexan Rodrigo, Aresha Manamperi, Frances Smith, Angela Allen…
    Citation: Orphanet Journal of Rare Diseases 2020 15:177
  33. The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).

    Authors: Wenshuai Xu, Zhiyan Xu, Yaping Liu, Yongzhong Zhan, Xin Sui, Ruie Feng, Min Peng, Xue Li, Jun Wang, Shuzhen Meng, Li Wang, Xinlun Tian, Xue Zhang and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:176
  34. Urinary dysfunction is one of the main features of human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However, a comprehensive assessment of the severity is diffic...

    Authors: Natsuko Yamakawa, Naoko Yagishita, Tomohiro Matsuo, Junji Yamauchi, Takahiko Ueno, Eisuke Inoue, Ayako Takata, Misako Nagasaka, Natsumi Araya, Daisuke Hasegawa, Ariella Coler-Reilly, Shuntaro Tsutsumi, Tomoo Sato, Abelardo Araujo, Jorge Casseb, Eduardo Gotuzzo…
    Citation: Orphanet Journal of Rare Diseases 2020 15:175
  35. Treatment of autoimmune pulmonary alveolar proteinosis (aPAP) by inhaled granulocyte-macrophage colony stimulating factor (GM-CSF) is considered safe and effective. Evidence of benefit from GM-CSG inhalation f...

    Authors: Xinlun Tian, Yanli Yang, Lulu Chen, Xin Sui, Wenshuai Xu, Xue Li, Xiaobei Guo, Lingshan Liu, Yusen Situ, Jun Wang, Yang Zhao, Shuzhen Meng, Wei Song, Yonglong Xiao and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:174
  36. Macrophages play a significant role in liver disease development and progression. The macrophage activation marker soluble (s)CD163 is associated with severity and prognosis in a number of different acute and ...

    Authors: Emilie Glavind, Daniel N. Gotthardt, Jan Pfeiffenberger, Thomas Damgaard Sandahl, Teodora Bashlekova, Gro Linno Willemoe, Jane Preuss Hasselby, Karl Heinz Weiss, Holger Jon Møller, Hendrik Vilstrup, William M. Lee, Michael L. Schilsky, Peter Ott and Henning Grønbæk
    Citation: Orphanet Journal of Rare Diseases 2020 15:173
  37. X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activ...

    Authors: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala and Zulf Mughal
    Citation: Orphanet Journal of Rare Diseases 2020 15:172
  38. Fanconi anemia is a rare disease clinically characterized by malformations, bone marrow failure and an increased risk of solid tumors and hematologic malignancies. The only therapies available are hematopoieti...

    Authors: Helena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, Maria Häggblad, Bo Lundgren, Miriam Aza-Carmona, Thomas Helleday, Jordi Minguillón and Jordi Surrallés
    Citation: Orphanet Journal of Rare Diseases 2020 15:170
  39. The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.

    Authors: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos and Javier Llorca
    Citation: Orphanet Journal of Rare Diseases 2020 15:168
  40. Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results i...

    Authors: Ibrahim Kalle Kwaifa, Mei I. Lai and Sabariah Md Noor
    Citation: Orphanet Journal of Rare Diseases 2020 15:166
  41. Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion be...

    Authors: Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager…
    Citation: Orphanet Journal of Rare Diseases 2020 15:165
  42. 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
  43. In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, impr...

    Authors: Layla Damen, Stephany H. Donze, Renske J. Kuppens, Nienke E. Bakker, Laura C. G. de Graaff, Janielle A. E. M. van der Velden and Anita C. S. Hokken-Koelega
    Citation: Orphanet Journal of Rare Diseases 2020 15:163
  44. Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused...

    Authors: Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne and Indraneel Banerjee
    Citation: Orphanet Journal of Rare Diseases 2020 15:162
  45. Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single ...

    Authors: Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Ravi Savarirayan
    Citation: Orphanet Journal of Rare Diseases 2020 15:161
  46. Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD vari...

    Authors: Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino and Lee-Jun C. Wong
    Citation: Orphanet Journal of Rare Diseases 2020 15:160
  47. Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...

    Authors: Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast and Jay A. Barth
    Citation: Orphanet Journal of Rare Diseases 2020 15:158