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  1. In pediatric multi-system high risk organs (RO +) Langerhans cell histiocytosis (LCH), failing 1st line treatment has the highest mortality. We aim to present the outcome of failure of 1st line whether due to ...

    Authors: Mohamed Sedky M. Sedky, Asmaa Hamoda, Hala Taha, Iman Zaky, Omayma Hassanain and Alaa ElHaddad
    Citation: Orphanet Journal of Rare Diseases 2024 19:242
  2. Hereditary angioedema (HAE) is characterized by unpredictable and often severe cutaneous and mucosal swelling that affects the extremities, face, larynx, gastrointestinal tract, or genitourinary area. Introduc...

    Authors: Robbin Itzler, William R. Lumry, John Sears, Julia Braverman, Yinglei Li, Caroline J. Brennan and Gary G. Koch
    Citation: Orphanet Journal of Rare Diseases 2024 19:241
  3. Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic cou...

    Authors: Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes and Letícia da Cunha Guida
    Citation: Orphanet Journal of Rare Diseases 2024 19:240
  4. Osteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an increased risk of fractures, and skeletal and extra-skeletal symptoms that results in an imp...

    Authors: Belén Sagastizabal, Inmaculada Calvo, Àngels Martínez-Ferrer, James Clancy, Álvaro Pérez, Alicia Gil and Rosa Bou
    Citation: Orphanet Journal of Rare Diseases 2024 19:239
  5. Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper unde...

    Authors: Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen and Ta-Ching Chen
    Citation: Orphanet Journal of Rare Diseases 2024 19:238
  6. SMARCA4, as one of the subunits of the SWI/SNF chromatin remodeling complex, drives SMARCA4-deficient tumors. Gastric SMARCA4-deficient tumors may include gastric SMARCA4-deficient carcinoma and gastric SMARCA...

    Authors: Ping Zhou, Yiyun Fu, Weiya Wang, Yuan Tang and Lili Jiang
    Citation: Orphanet Journal of Rare Diseases 2024 19:237
  7. This study aimed to enhance the understanding of the role of estrogen in lymphangioleiomyomatosis(LAM) and to conclude the impact of estrogen-altering events on the condition and recent advances in estrogen-ba...

    Authors: Jingye Tai, Shihua Liu, Xinping Yan, Luantai Huang, Yingxin Pan, Hongyuan Huang, Zhen Zhao, Beini Xu and Jie Liu
    Citation: Orphanet Journal of Rare Diseases 2024 19:236
  8. Arthrogryposis multiplex congenita (AMC) is a group of rare musculoskeletal conditions that is associated with complex healthcare needs and long-term follow up. The literature reports significant direct, indir...

    Authors: R. U. Elekanachi, A. Lajoie, S. Tavukcu, L. M. Snider and N. Dahan-Oliel
    Citation: Orphanet Journal of Rare Diseases 2024 19:235
  9. The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED...

    Authors: Alberto Lopez-de la Rosa, Juan J. Telleria, Manuel Posada de la Paz, Isabel M. Hermosilla-Gimeno, Miren Agurtzane Rivas, Raúl Gilabert and Rosa M. Coco-Martín
    Citation: Orphanet Journal of Rare Diseases 2024 19:234
  10. Two new missense variants (K68Q and R252H) of the protein kinase DYRK1B were recently reported to cause a monogenetic form of metabolic syndrome with autosomal dominant inheritance (AOMS3).

    Authors: Silvia Detro-Dassen, Anna Sternberg, Sonja Maria Lehmann, Katharina Schwandt, Stefan Düsterhöft and Walter Becker
    Citation: Orphanet Journal of Rare Diseases 2024 19:233
  11. Pulmonary high-grade neuroendocrine carcinomas(pHGNEC) encompassing small cell lung cancer (SCLC) and large cell neuroendocrine carcinoma (LCNEC) are clinically aggressive tumors with poor prognosis. The role ...

    Authors: Lei Liu, Jiaqi Zhang, Ke Zhao, Chao Guo, Cheng Huang, Shanqing Li and Yeye Chen
    Citation: Orphanet Journal of Rare Diseases 2024 19:232
  12. Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtyp...

    Authors: Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do and Forbes D. Porter
    Citation: Orphanet Journal of Rare Diseases 2024 19:231
  13. The present study aimed to test the hypothesis stating that the cognitive potential of individuals with deafblindness is equal to those without a deafblind condition, an assumption that until now has been empi...

    Authors: Lynn Skei, Sigmund Skei, Timothy Hartshorne and Nils Inge Landrø
    Citation: Orphanet Journal of Rare Diseases 2024 19:230
  14. Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheritance patter...

    Authors: Yimin Dai, Miao He, Hui Xu, Bei Tan, Weixun Zhou, Wei Liu, Qiang Wang, Jingyi Huang, Qing Shang, Yaping Liu and Yue Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:229
  15. Developmental dysplasia of the hip (DDH) is a common childhood health complaint, whose etiology is multifactorial. The incidence of DDH is variable and higher in Tibet plateau. Here, we collected plasma sample...

    Authors: Ye Guo, Xiaogang Li, De Yang, Nyima Yedron, Tao Chen, Jianchu Li, Yanming Lei, Ping Li, Jiamei Ji, Li Shi, Xiao Yang and Ten Cho
    Citation: Orphanet Journal of Rare Diseases 2024 19:228
  16. Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role of arterial tortuosity in non-atherosclerotic vascular diseases remain to be fully eluc...

    Authors: Xhyljeta Luta, Fabio Zanchi, Marco Fresa, Enrica Porccedu, Sanjiv Keller, Judith Bouchardy, Sébastien Déglise, Salah Dine Qanadli, Matthias Kirsch, Grégoire Wuerzner, Andrea Superti-Furga, Giacomo Buso and Lucia Mazzolai
    Citation: Orphanet Journal of Rare Diseases 2024 19:227
  17. Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Currently, seven causative genes have been identified for WS, but clinical genetic testin...

    Authors: Fengying Sun, Minmin Xiao, Dong Ji, Feng Zheng and Tieliu Shi
    Citation: Orphanet Journal of Rare Diseases 2024 19:226
  18. Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-g...

    Authors: Shu-Yuan Li, Jia-Yan Feng, Zhong-Die Li and Teng Liu
    Citation: Orphanet Journal of Rare Diseases 2024 19:225
  19. Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ancestral variants in the F11 gene have been identified in Ashkenazi Jews and other selected Eu...

    Authors: Ke Zhang, Langyi Qin, Fei Xu, Longying Ye, Mengzhen Wen, Jingye Pan, Lihong Yang, Mingshan Wang and Haixiao Xie
    Citation: Orphanet Journal of Rare Diseases 2024 19:224
  20. Extramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with high apocrine gland concentration such as the vulva, scrotum, penis and p...

    Authors: Boon Yee Lim, Zexi Guo, Jing Quan Lim, Tun Kiat Ko, Elizabeth Chun Yong Lee, Bavani Kannan, Jing Yi Lee, Abner Herbert Lim, Zhimei Li, Cedric Chuan-Young Ng, Inny Busmanis and Jason Yongsheng Chan
    Citation: Orphanet Journal of Rare Diseases 2024 19:223
  21. The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society. Research methodology, dem...

    Authors: Tracy Hart, Ingunn Westerheim, Taco van Welzenis, Oliver Semler, Cathleen Raggio, Frank Rauch, Ruby Dadzie, Samantha Prince and Lena Lande Wekre
    Citation: Orphanet Journal of Rare Diseases 2024 19:222
  22. Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Prevalence data are scarce. The aim of this study was to examine the validity of differen...

    Authors: María D. Esteban-Vasallo, M. Felicitas Domínguez-Berjón, Juan Pablo Chalco-Orrego and Julio González Martín–Moro
    Citation: Orphanet Journal of Rare Diseases 2024 19:220
  23. Biallelic pathogenic variants of LARS1 cause infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute hepatic failure with steatosis in infants. LARS functions as a protein associated with...

    Authors: Masanori Inoue, Wulan Apridita Sebastian, Shota Sonoda, Hiroaki Miyahara, Nobuyuki Shimizu, Hiroshi Shiraishi, Miwako Maeda, Kumiko Yanagi, Tadashi Kaname, Reiko Hanada, Toshikatsu Hanada and Kenji Ihara
    Citation: Orphanet Journal of Rare Diseases 2024 19:219
  24. Microtia is reported to be one of the most common congenital craniofacial malformations. Due to the complex etiology and the ethical barrier of embryonic study, the precise mechanisms of microtia remain unclea...

    Authors: Wenbo Liu, Yi Wu, Rulan Ma, Xinxi Zhu, Rui Wang, Lin He and Maoguo Shu
    Citation: Orphanet Journal of Rare Diseases 2024 19:218
  25. To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central...

    Authors: Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh and Chih-Chao Yang
    Citation: Orphanet Journal of Rare Diseases 2024 19:217
  26. Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic appr...

    Authors: Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis and Filippo Pinto e Vairo
    Citation: Orphanet Journal of Rare Diseases 2024 19:216
  27. Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, ...

    Authors: Ella Nysetvold, Lauren N. Lopez, Ashley N. Cogell, Henrik Fryk, Nelson D. Pace, Sara Snell Taylor, Joyce Rhoden, Caitlin A. Nichols, Demetris Pillas, Alexander Klein, Teresa Gasalla and Anna Scowcroft
    Citation: Orphanet Journal of Rare Diseases 2024 19:215
  28. Intraplacental choriocarcinoma (IC) is an extremely rare subtype of gestational choriocarcinoma. The long-term follow-up and reproductive outcomes of IC patients remain unclear. Here, we report a series of 14 ...

    Authors: Yang Liu, Xiaochen Song, Hui Zhang, Fengzhi Feng, Jun Zhao, Junjun Yang, Tong Ren, Xirun Wan, Fang Jiang, Yuan Li and Yang Xiang
    Citation: Orphanet Journal of Rare Diseases 2024 19:214
  29. Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, ...

    Authors: Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels…
    Citation: Orphanet Journal of Rare Diseases 2024 19:213
  30. Brain injury in hereditary hemoglobinopathies is commonly attributed to anemia-related relative hypoperfusion in terms of impaired oxygen blood supply. Supratentorial and infratentorial vascular watershed regi...

    Authors: Renzo Manara, Sara Ponticorvo, Marcella Contieri, Antonietta Canna, Andrea Gerardo Russo, Maria Cristina Fedele, Maria Chiara Rocco, Adriana Borriello, Silvia Valeggia, Maria Pennisi, Marianna De Angelis, Domenico Roberti, Mario Cirillo, Francesco di Salle, Silverio Perrotta, Fabrizio Esposito…
    Citation: Orphanet Journal of Rare Diseases 2024 19:212
  31. With approximately 500 people affected in Austria, epidermolysis bullosa (EB) is a rare genetic skin disease reducing the quality of life of those affected and their relatives. The intensive efforts of the pat...

    Authors: Gudrun Salamon, Ursula Field-Werners, Sophie Strobl, Vinzenz Hübl and Anja Diem
    Citation: Orphanet Journal of Rare Diseases 2024 19:211
  32. Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and unpredictable episodes of cold, non-pruriginous oedema without associated ur...

    Authors: Teresa Caballero, Carmen Alonso, María Luisa Baeza, Krasimira Baynova, José Cabeza, Isabel Cortés, Danilo Escobar Oblitas, Mar Guilarte, Alejandro Joral, Jesús Jurado Palomo, María Ángeles Lara Jiménez, Ana Martínez Virto, Laura Medrano, Emilio Monte Boquet, Montserrat Navarro, Diego Pérez…
    Citation: Orphanet Journal of Rare Diseases 2024 19:210
  33. Marfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic variants in fibrillin-1 (FBN1).

    Authors: Ying Bai, Yue Sun, Chenguang Yu, Yanjie Xia, Jing Wu, Li Wang, Yong Gao, Xin Tu and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2024 19:209
  34. When using traditional extensible intramedullary rods to treat congenital pseudarthrosis of the tibia (CPT), there were cases of re-fracture and internal fixation fracture. Therefore, the authors propose a res...

    Authors: Yaoxi Liu, Kun Liu, Qian Tan, Ge Yang, Yiyong Huang, Guanghui Zhu, Jiangyan Wu and Haibo Mei
    Citation: Orphanet Journal of Rare Diseases 2024 19:208
  35. Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evalua...

    Authors: Norah L. Crossnohere, Nicola B. Campoamor, Eric Camino, Erin Dresnick, Daphne Oluwaseun Martschenko, Viana Rodrigues, Susan Apkon, Alexis Hazlett, Dhruv Mittur, Priscilla E. Rodriguez, John F. P. Bridges and Niki Armstrong
    Citation: Orphanet Journal of Rare Diseases 2024 19:207
  36. Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have prim...

    Authors: Austin Hwang, Andie Kwon, Corinne H. Miller, Antonia Reimer-Taschenbrecker and Amy S. Paller
    Citation: Orphanet Journal of Rare Diseases 2024 19:206
  37. Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopme...

    Authors: Ruohao Wu, Xiaojuan Li, Zhe Meng, Pinggan Li, Zhanwen He and Liyang Liang
    Citation: Orphanet Journal of Rare Diseases 2024 19:205
  38. Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional in...

    Authors: Kevin Bloch, Maya Geoffroy, Maxime Taverne, Lara van de Lande, Eimear O’Sullivan, Ce Liang, Giovanna Paternoster, Mehran Moazen, Sébastien Laporte and Roman Hossein Khonsari
    Citation: Orphanet Journal of Rare Diseases 2024 19:204
  39. Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the persp...

    Authors: Ian Hitchcock, Hanna Skrobanski, Elina Matter, Ewen Munro, John Whalen, Joanne Tutein Nolthenius, Alex Crocker-Buque, Amanda Harrington, Delphine Vandenberghe, Sarah Acaster and Kate Williams
    Citation: Orphanet Journal of Rare Diseases 2024 19:203
  40. There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in ...

    Authors: María L. Couce, María-Dolores Bóveda, Daisy E. Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia, María-José De Castro, Agustin J. Iglesias-Rodríguez, Cristóbal Colón, José A. Cocho and Paula Sánchez
    Citation: Orphanet Journal of Rare Diseases 2024 19:202
  41. Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chine...

    Authors: Qing Shang, Yimin Dai, Jingyi Huang, Wei Liu, Weixun Zhou, Yaping Liu, Hong Yang, Qiang Wang and Yue Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:201
  42. MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation to...

    Authors: Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania and Costanza Lamperti
    Citation: Orphanet Journal of Rare Diseases 2024 19:200
  43. Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share simila...

    Authors: Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula and Laurence M. Boon
    Citation: Orphanet Journal of Rare Diseases 2024 19:199
  44. Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show divers...

    Authors: Ling Su, Huiying Sheng, Xiuzhen Li, Yanna Cai, Huifen Mei, Jing Cheng, Duan Li, Zhikun Lu, Yunting Lin, Xiaodan Chen, Minzhi Peng, Yonglan Huang, Wen Zhang and Li Liu
    Citation: Orphanet Journal of Rare Diseases 2024 19:198
  45. Rare diseases are often complex, chronic and many of them life-shortening. In Germany, healthcare for rare diseases is organized in expert centers for rare diseases. Most patients additionally have regional ge...

    Authors: Laura Inhestern, Ramona Otto, Maja Brandt, David Zybarth, Ralf Oheim, Helke Schüler, Thomas S. Mir, Konstantinos Tsiakas, Payam Dibaj, Jana Zschüntzsch, Pamela M. Okun, Ute Hegenbart, Olaf Sommerburg, Christoph Schramm, Christina Weiler-Normann, Martin Härter…
    Citation: Orphanet Journal of Rare Diseases 2024 19:197
  46. KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impai...

    Authors: Rowena Ng, Allison J Kalinousky and Jacqueline Harris
    Citation: Orphanet Journal of Rare Diseases 2024 19:196
  47. The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS...

    Authors: Kexin Xu, Guozhuang Li, Zhihong Wu, Terry Jianguo Zhang and Nan Wu
    Citation: Orphanet Journal of Rare Diseases 2024 19:194
  48. Adeno-associated virus (AAV)-based gene therapy for haemophilia has advanced substantially in the last 13 years; recently, three products have received approvals from regulatory authorities. Although the impac...

    Authors: Wolfgang Miesbach, Greta Mulders, Daan Breederveld, Karen Pinachyan, Sandra Le Quellec and Ingrid Pabinger
    Citation: Orphanet Journal of Rare Diseases 2024 19:193