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  1. The mucopolysaccharidoses are a group of rare, inherited metabolic disorders. MPS II is a X-linked recessive disease, also known as Hunter syndrome. Clinical manifestations include upper and lower respiratory ...

    Authors: James Dempsey, Jessica Daniels, Roulla Katiri, Sophie Thomas, Aleksandra Metryka, Mira de Kruijf, Stuart Wilkinson, Simon A. Jones and Iain A. Bruce
    Citation: Orphanet Journal of Rare Diseases 2025 20:88
    Content type: Research Published on:

  2. Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by t...

    Authors: Wenjing Li, Qin Zhang, Hongjun Miao and Jin Xu
    Citation: Orphanet Journal of Rare Diseases 2025 20:87
    Content type: Research Published on:

  3. Rare diseases are conditions that have a low prevalence in the population and a high disease burden and are often chronic and progressive. International evidence concerning the experience of people and familie...

    Authors: Báltica Cabieses, Alexandra Obach, Antonia Roberts and Gabriela Repetto
    Citation: Orphanet Journal of Rare Diseases 2025 20:86
    Content type: Research Published on:

  4. The aim of this study was to investigate the influence of overweight (BMI ≥ 25 (kg/m²)) on the oral health status in patients with adult hypophosphatasia (HPP).

    Authors: Florian Dudde, Dominik Fildebrandt, Karin Petz, Ralf Smeets, Martin Gosau, Michael Amling, Thomas Beikler and Florian Barvencik
    Citation: Orphanet Journal of Rare Diseases 2025 20:85
    Content type: Research Published on:

  5. Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited me...

    Authors: Leila Salarian, Homa Ilkhanipoor, Anis Amirhakimi, Zhila Afshar, Saman Nahid, Fariba Moradi Ardekani, Nazila Rahimi, Negar Yazdani, Abdolhossein Nikravesh, Zahra Beyzaei and Hossein Moravej
    Citation: Orphanet Journal of Rare Diseases 2025 20:84
    Content type: Research Published on:

  6. Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that can result in a range of illnesses, with chronic obstructive pulmonary disease (COPD) being one of the most common. Although some people obtain ...

    Authors: Ekin Seçinti, Karolina Schantz, Laure Delbecque, John Krege, Rikki Mangrum and Sarah E. Curtis
    Citation: Orphanet Journal of Rare Diseases 2025 20:83
    Content type: Research Published on:

  7. Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care. Caring for individuals with AS leads to substantial house...

    Authors: John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross and Megan Tones
    Citation: Orphanet Journal of Rare Diseases 2025 20:82
    Content type: Research Published on:

  8. Type I Congenital Disorders of Glycosylation (CDG-I) are inherited diseases presenting deficits in protein N-glycosylation involving either the biosynthesis of the lipid-linked oligosaccharide Glc3Man9GlcNAc2-PP-...

    Authors: Sandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, Vincent Desportes, David Cheillan, Stuart E. H. Moore and Isabelle Chantret
    Citation: Orphanet Journal of Rare Diseases 2025 20:81
    Content type: Research Published on:

  9. Progressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a genetic background. PFIC are paediatric manifestations, but the same variants causing P...

    Authors: Giovanni Vitale, Marco Sciveres, Claudia Mandato, Adamo Pio d’Adamo and Angelo Di Giorgio
    Citation: Orphanet Journal of Rare Diseases 2025 20:80
    Content type: Review Published on:

  10. The aim of our multicenter study was to investigate the safety and efficacy of enzyme replacement therapy (ERT) and chaperone therapy on the disease progression in female Fabry disease (FD) patients and to com...

    Authors: Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat and Eva Brand
    Citation: Orphanet Journal of Rare Diseases 2025 20:79
    Content type: Research Published on:

  11. Young patients can be uniquely vulnerable to the impacts of a rare disease, diagnosed in their critical years of identity formation, social development, and planning for the future. Drawing from my journey as ...

    Authors: Geena Capps
    Citation: Orphanet Journal of Rare Diseases 2025 20:72
    Content type: Letter to the Editor Published on:

  13. Certain bone diseases of congenital origin are associated with dental alterations and with oromaxillofacial (OMF) disorders. The objective of this study was to evaluate and compare the OMF alterations presente...

    Authors: Elias Isaack Mashala, Lluís Brunet-Llobet, Anastasiya Lapitskaya, Sol Balsells-Mejía, Ombeni Mrina and Jaume Miranda-Rius
    Citation: Orphanet Journal of Rare Diseases 2025 20:77
    Content type: Research Published on:

  14. Noonan Syndrome (NS) is a rare multisystemic disorder with heterogeneous phenotypic manifestations. The aim of this study was to analyse rates of survival, hospitalisation, surgeries and prescriptions in child...

    Authors: Michele Santoro, Ingeborg Barisic, Alessio Coi, Joachim Tan, Ester Garne, Maria Loane, Ljubica Odak, Maria Valentina Abate, Elisa Ballardini, Clara Cavero-Carbonell, Miriam Gatt, Mika Gissler, Kari Klungsøyr, Nathalie Lelong, David Tucker, Diana Wellesley…
    Citation: Orphanet Journal of Rare Diseases 2025 20:76
    Content type: Research Published on:

  15. Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety diso...

    Authors: P. Maxwell Slepian, Kristina Axenova, Molly McCarthy, Rachel Siegal, Keisha Gobin, Aliza Weinrib, Stephanie Buryk-Iggers, Daniel Santa Mina, Laura McGillis, Nimish Mittal, Joel Katz and Hance Clarke
    Citation: Orphanet Journal of Rare Diseases 2025 20:75
    Content type: Research Published on:

  16. In a recent publication by Klein et al., the need for real-world data on rare diseases is highlighted. We strongly support this need, and the collaboration with the patient community to collect data, as promot...

    Authors: Michelle E. Kruijshaar, Tiffany House, Benedikt Schoser, Pascal Laforêt, Maudy T. M. Theunissen, Stephan Wenninger, Thomas Hundsberger, Jordi Diaz-Manera, Ans T. van der Ploeg and Nadine A. M. E. van der Beek
    Citation: Orphanet Journal of Rare Diseases 2025 20:74
    Content type: Letter to the Editor Published on:

  17. Pulmonary alveolar proteinosis (PAP) is a rare lung syndrome characterized by the accumulation of surfactant in the alveoli. Using a longitudinal claims database, we compared measures of clinical and economic ...

    Authors: Elinor Lee, Ali Ataya, Cormac McCarthy, Erica Godart, John Cosenza, Alysse King, Brian Robinson and Tisha Wang
    Citation: Orphanet Journal of Rare Diseases 2025 20:73
    Content type: Research Published on:

  18. EQ-5D-Y is a pediatric preference-based health-related quality of life (HRQL) measure that is recommended in health economic evaluation according to China’s guidelines. However, there is limited evidence regar...

    Authors: Wanxian Liang, Shihuan Cao, Yusi Suo, Lining Zhang, Lujia Yang, Hanfei Wang, Han Wang and Xuejing Jin
    Citation: Orphanet Journal of Rare Diseases 2025 20:71
    Content type: Research Published on:

  19. Eccrine porocarcinoma (EPC) is a rare malignant skin tumor arising from the eccrine gland. Investigations into the genomic landscape of EPC have uncovered potential drivers of its development and progression. ...

    Authors: Maya Puttonen, Henrikki Almusa, Tom Böhling, Virve Koljonen and Harri Sihto
    Citation: Orphanet Journal of Rare Diseases 2025 20:70
    Content type: Research Published on:

  20. To investigate the prevalence and recurrence rates of spontaneous pneumothorax (SP) in patients with diffuse cystic lung diseases (DCLDs).

    Authors: Rui Wang, Xianmeng Chen, Shicheng Xu, Xianliang Jiang, Jinli Liu, Xuehan Liu, Jay H. Ryu and Xiaowen Hu
    Citation: Orphanet Journal of Rare Diseases 2025 20:69
    Content type: Research Published on:

  21. CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) disease is a newly identified condition with an estimated worldwide prevalence of < 100 pati...

    Authors: Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, Hagit Baris Feldman, Andrew Yaworsky, Paolo Medrano, Voranush Chongsrisawat, Lorah Perlee, Marisa Walker, Sharanya Pradeep, Diane M. Turner-Bowker, Alina Kurolap, Orly Eshach Adiv, Michael J. Lenardo, Olivier A. Harari and Jessica J. Jalbert
    Citation: Orphanet Journal of Rare Diseases 2025 20:68
    Content type: Research Published on:

  22. Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35. Prenatal diagnosis of...

    Authors: Mengmeng Li, Na Hao, Jiazhen Chang, Kaili Yin, Xueting Yang, Yaru Wang, Yi Dai and Yulin Jiang
    Citation: Orphanet Journal of Rare Diseases 2025 20:67
    Content type: Research Published on:

  23. Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic alkalosis and hypomagnesemia, due to biallelic pathogenic variants in the solute carrier family 12 member 3 (SLC12A3) gen...

    Authors: Na Wang, Yuanxing Yang, Xiong Tian, Hongjun Fu, Shuaishuai Chen, Juping Du, Mengyi Xu, Haixia He, Bo Shen and Jiaqin Xu
    Citation: Orphanet Journal of Rare Diseases 2025 20:66
    Content type: Research Published on:

  24. Genetic mitochondrial diseases are a major challenge in modern medicine. These impact ~ 1:4,000 individuals and there are currently no effective therapies. Leigh syndrome is the most common pediatric presentat...

    Authors: Ernst-Bernhard Kayser, Michael Mulholland, Elizaveta A. Olkhova, Yihan Chen, Holly Coulson, Owen Cairns, Vivian Truong, Katerina James, Brittany M. Johnson, Allison Hanaford and Simon C. Johnson
    Citation: Orphanet Journal of Rare Diseases 2025 20:65
    Content type: Research Published on:

  25. In patients with slow-flow vascular malformations (SFVMs) including venous malformations (VM), lymphatic malformations (LM) or Klippel–Trenaunay Syndrome (KTS), somatic gain-of-function mutations in genes enco...

    Authors: Michio Ozeki, Akira Tanaka, Kanako Kuniyeda, Taiki Nozaki, Akihiro Fujino, Tadashi Nomura, Naoto Uemura, Souichi Suenobu, Noriko Aramaki-Hattori, Ayato Hayashi, Aiko Kato, Hiro Kiyosue, Kotaro Imagawa, Munetomo Nagao, Fumiaki Shimizu, Junko Ochi…
    Citation: Orphanet Journal of Rare Diseases 2025 20:64
    Content type: Research Published on:

  27. Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome. However, cardiac manif...

    Authors: Dietrich Stoevesandt, Axel Schlitt, Philipp Röntgen and Torsten Kraya
    Citation: Orphanet Journal of Rare Diseases 2025 20:62
    Content type: Research Published on:

  28. The objective of this study was to assess the demographic characteristics and impact on quality of life (QoL) of patients with PPG in France through a multicentre study. The results of the study are as follows...

    Authors: Cristina Bulai Livideanu, Jérémy Gottlieb, Denis Jullien, Thierry Passeron, Sophie Vildy, Emmanuel Delaporte, Carle Paul, Julien Chollet, Marie Najean, Denis San, Charles Taieb, Bénédicte Charles, Emmanuel Mahe, Pierre-André Becherel and Laurent Misery
    Citation: Orphanet Journal of Rare Diseases 2025 20:61
    Content type: Letter to the Editor Published on:

  29. Hyperphenylalaninemia, a prevalent amino acid metabolism disorder, often results in cognitive impairment. Recent studies have identified a rare variant of this disorder caused by mutations in the DNAJC12 gene. Th...

    Authors: Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia and Zhixin Zhang
    Citation: Orphanet Journal of Rare Diseases 2025 20:60
    Content type: Research Published on:

  30. A correlation between various sites or types of mutations in mitochondrial DNA ND3 and the development of a specific mitochondrial disease or phenotype has yet to be fully established.

    Authors: YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang and ZaiQiang Zhang
    Citation: Orphanet Journal of Rare Diseases 2025 20:59
    Content type: Review Published on:

  31. Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare genetic disorder characterized by movement disorders, motor and autonomic dysfunction, and developmental delays. The gene therapy eladocagene ex...

    Authors: Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang and Ioannis Tomazos
    Citation: Orphanet Journal of Rare Diseases 2025 20:58
    Content type: Research Published on:

  32. Treacher Collins syndrome (TCS, MIM #154500), a severe congenital disorder, predominantly involves dysplasia of craniofacial bones and is characterized by features such as downslanting palpebral fissures, lowe...

    Authors: Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu and Yong-Biao Zhang
    Citation: Orphanet Journal of Rare Diseases 2025 20:57
    Content type: Research Published on:

  33. Thalassemia is one of southern China’s most common inherited disorders. This retrospective study analyzed the results of thalassemia gene testing conducted on 20,478 individuals from January 1, 2019, to April ...

    Authors: Xuanyin Zhao, Zhiyu You, Yunyan Deng, Yi Zhou, Dongyang Deng, Jian Quan, Fang Chen, Zhimei Yan, Ya Qi, Leilei Chen, Fang Xiang, Weixian Zheng and Ruyi Zhang
    Citation: Orphanet Journal of Rare Diseases 2025 20:56
    Content type: Research Published on:

  34. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q. With current genetic testing, SMN...

    Authors: Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma and Kayoko Saito
    Citation: Orphanet Journal of Rare Diseases 2025 20:55
    Content type: Research Published on:

  35. We read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additio...

    Authors: Hiba Abid, Areeba Abid, Sarah Sohail and Sara Jawaid
    Citation: Orphanet Journal of Rare Diseases 2025 20:54
    Content type: Letter to the Editor Published on:

  36. The diagnosis of amyopathic dermatomyositis with interstitial lung disease (ADM-ILD) is challenging due to the lack of typical skin features and overlapping syndromes. We aimed to determine the characteristics...

    Authors: Yanan Ying, Tingting Wu, Long Wang, Yun Zhang, Yiming Yu, Zaichun Deng and Qunli Ding
    Citation: Orphanet Journal of Rare Diseases 2025 20:53
    Content type: Research Published on:

  38. Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 are...

    Authors: Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke…
    Citation: Orphanet Journal of Rare Diseases 2025 20:51
    Content type: Research Published on:

  39. The SOX5 gene has been identified as the pathogenic gene responsible for Lamb-Shaffer syndrome. In this study, we examined the SOX5 variant (c.221C > T, p.Thr74Met) within a Chinese family presenting with intelle...

    Authors: Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu…
    Citation: Orphanet Journal of Rare Diseases 2025 20:50
    Content type: Research Published on:

  41. Authors: Lothar Seefried, Ferdinando Aliberti, Cathrine Alsaker Heier, Pedro Arango-Sancho, Martin Biosse Duplan, Sophia D. Sakka, Francesco Emma, Oliver Gardiner, Muhammad Kassim Javaid, Rui M. Ferreira-Santos, Adalbert Raimann, Kristen Rak, Judith S. Bubbear, Moira S. Cheung, Signe Sparre Beck-Nielsen, Gabriel T. Mindler…
    Citation: Orphanet Journal of Rare Diseases 2025 19(Suppl 2):497
    Content type: Meeting Report Published on:

    This article is part of a Supplement: Volume 19 Supplement 2

  42. To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype ch...

    Authors: Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li and Niu Li
    Citation: Orphanet Journal of Rare Diseases 2025 20:48
    Content type: Research Published on:

  43. Patients with hereditary angioedema (HAE) experience recurrent, unpredictable episodes of edema. These swellings are often preceded by prodromal symptoms. HAE management includes acute treatment, long-term pro...

    Authors: Robin Lochbaum, Thomas K. Hoffmann, Jens Greve and Janina Hahn
    Citation: Orphanet Journal of Rare Diseases 2025 20:47
    Content type: Research Published on:

  44. Congenital disorders of glycosylation are a rare group of disorders characterized by impaired glycosylation, wherein STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex, which is crucial ...

    Authors: Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng and Lingling Xie
    Citation: Orphanet Journal of Rare Diseases 2025 20:46
    Content type: Research Published on:

  45. Superficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, sub...

    Authors: Olivia Boccara, Didier Salvan, Claude Laurian, Caroline Degrugillier-Chopinet, Nathalie Degardin, Jean-Guillaume Dillinger, Julie Malloizel-Delaunay, Stéphane Mouton, Stéphane Munck, Annabel Maruani and Annouk Bisdorff-Bresson
    Citation: Orphanet Journal of Rare Diseases 2025 20:45
    Content type: Position statement Published on:

  46. Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily availa...

    Authors: Vera-Maria Herrmann, Maria Arelin, Caroline G. Bergner, Julia Herrmann, Paula Janz, Henriette Kiep, Annika Mueller, Steffen Syrbe, Robert Wagner, Bardo Wannenmacher, Nadine Wolf, Michael Weidenbach and Vincent Strehlow
    Citation: Orphanet Journal of Rare Diseases 2025 20:44
    Content type: Research Published on:

  47. Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reli...

    Authors: Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, Majdolen Istaiti, Jaco Botha, Elena Lukina, Pilar Giraldo, Patrick Deegan and Stephan vom Dahl
    Citation: Orphanet Journal of Rare Diseases 2025 20:43
    Content type: Research Published on:

  48. Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments a...

    Authors: José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña…
    Citation: Orphanet Journal of Rare Diseases 2025 20:42
    Content type: Research Published on:

  49. Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifesta...

    Authors: Xiaoyan Zhang, Zexiong Su, Jiaxing Wu, Hanshi Zeng, Xun Jiang, Ying Wang, Huiqing Shen, Xiaoli Xie, Yuan Xiao, Qing Tang, Xiaoping Luo, Xuemei Zhong, Huan Chen, Jiaoli Lan, Yongxin Chen, Xiaolu Zeng…
    Citation: Orphanet Journal of Rare Diseases 2025 20:41
    Content type: Research Published on:

  50. Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application ...

    Authors: Huanyun Li, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Xinyu Fu, Jingqi Zhu, Jun Feng, Weiqin Tang, Di Wu and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2025 20:40
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172