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Rare systemic diseases

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  1. CNS actinomycosis is a rare chronic suppurative infection with non-specific clinical features. Diagnosis is difficult due to its similarity to malignancy, nocardiosis and other granulomatous diseases. This sys...

    Authors: Durga Shankar Meena, Deepak Kumar, Mukesh Sharma, Manika Malik, Akshatha Ravindra, N. Santhanam, Gopal Krishana Bohra and Mahendra Kumar Garg
    Citation: Orphanet Journal of Rare Diseases 2023 18:133
  2. Eosinophilic-related clinical manifestations are protean and the underlying conditions underpinning eosinophilia are highly diverse. The etiological workup of unexplained eosinophilia/hypereosinophilia can be ...

    Authors: Matthieu Groh, Julien Rohmer, Nicolas Etienne, Wadih Abou Chahla, Antoine Baudet, Aurélie Chan Hew Wai, Cécile Chenivesse, Irena Clisson Rusek, Vincent Cottin, Matthieu Decamp, Pascal De Groote, Fanny Delahousse, Nicolas Duployez, Stanislas Faguer, Frédéric Gottrand, Florent Huang…
    Citation: Orphanet Journal of Rare Diseases 2023 18:100
  3. Myocardial involvement (MI) is the primary cause of death in patients with systemic sclerosis (SSc). We analyzed patients with SSc and MI to identify their characteristics and outcome.

    Authors: Huilin He, Jinzhi Lai, Jiaxin Zhou, Yong Hou, Dong Xu, Mengtao Li and Xiaofeng Zeng
    Citation: Orphanet Journal of Rare Diseases 2023 18:83
  4. Behçet Syndrome (BS) has a significant psychological and social impact on patients, caregivers and families. The present study aims at exploring disease perception in BS patients, using both a co-designed surv...

    Authors: D. Marinello, I. Palla, V. Lorenzoni, G. Andreozzi, S. Pirri, S. Ticciati, S. Cannizzo, A. Del Bianco, E. Ferretti, S. Santoni, G. Turchetti, M. Mosca and R. Talarico
    Citation: Orphanet Journal of Rare Diseases 2023 18:58
  5. The objective of the study was to elaborate a conceptual framework related to the domains of patient experience along the cystic fibrosis (CF) journey from the patients and parents of children with CF to infor...

    Authors: D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel and Q. Reynaud
    Citation: Orphanet Journal of Rare Diseases 2023 18:31
  6. Hereditary transthyretin amyloidosis (ATTRv) is an ultra-rare, life-shortening disease with a high unmet need. This study examined ATTRv caregiver health-related quality of life (HRQoL) and productivity.

    Authors: Sarah Acaster, Siu Hing Lo and Sandra Nestler-Parr
    Citation: Orphanet Journal of Rare Diseases 2023 18:17
  7. People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pat...

    Authors: Birute Tumiene, Harm Peters, Bela Melegh, Borut Peterlin, Algirdas Utkus, Natalja Fatkulina, György Pfliegler, Holm Graessner, Sanja Hermanns, Maurizio Scarpa, Jean-Yves Blay, Sharon Ashton, Lucy McKay and Gareth Baynam
    Citation: Orphanet Journal of Rare Diseases 2022 17:441
  8. NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of ...

    Authors: Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong and Matthew N. Bainbridge
    Citation: Orphanet Journal of Rare Diseases 2022 17:440
  9. Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income...

    Authors: Roberta Shcolnik Szor, Fabio Fernandes, Angelina Maria Martins Lino, Leonardo Oliveira Mendonça, Fernanda Salles Seguro, Valkercyo Araujo Feitosa, Jussara Bianchi Castelli, Lecticia Barbosa Jorge, Lucas Bassolli de Oliveira Alves, Precil Diego Miranda de Menezes Neves, Evandro de Oliveira Souza, Livia Barreira Cavalcante, Denise Malheiros, Jorge Kalil, Gracia Aparecida Martinez and Vanderson Rocha
    Citation: Orphanet Journal of Rare Diseases 2022 17:425
  10. Vascular malformations in hereditary hemorrhagic telangiectasia (HHT) lead to chronic recurrent bleeding, hemorrhage, stroke, heart failure, and liver disease. There is great interest in identifying novel ther...

    Authors: K. P. Thompson, J. Sykes, P. Chandakkar, P. Marambaud, N. T. Vozoris, D. A. Marchuk and M. E. Faughnan
    Citation: Orphanet Journal of Rare Diseases 2022 17:405
  11. Our understanding of work productivity impairment among patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is limited. The purpose of this study was to provide an overview o...

    Authors: Chen Li, Heng Xu, Liang Gong, Afang Wang, Xia Dong, Kai Yuan, Guangrui Huang, Shufeng Wei and Luying Sun
    Citation: Orphanet Journal of Rare Diseases 2022 17:381
  12. The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilit...

    Authors: Marina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, Ascensión Vicente, Yolanda Martínez-Beneyto, Inmaculada Cabello-Malagón and Antonio José Ortiz-Ruiz
    Citation: Orphanet Journal of Rare Diseases 2022 17:376
  13. Interleukin (IL)-6 is one of the key cytokines in the pathogenesis of secondary hemophagocytic lymphohistiocytosis (sHLH); however, the efficacy and safety of tocilizumab (TCZ), a monoclonal IL-6 receptor anti...

    Authors: Ju Yeon Kim, Miso Kim, Jin Kyun Park, Eun Bong Lee, Jun Won Park and Junshik Hong
    Citation: Orphanet Journal of Rare Diseases 2022 17:363
  14. Behçet’s disease is a rare, chronic, incurable, multisystemic disease. It causes significant morbidity, with patients experiencing symptoms including mucous membrane ulcers, and joint pain and swelling. It is ...

    Authors: Annie Ashman, David Tucker, Ceri Williams and Llion Davies
    Citation: Orphanet Journal of Rare Diseases 2022 17:347
  15. Immunoglobulin G4-related disease (IgG4-RD) is a multisystem fibroinflammatory condition. The aim of the present study was to characterize the clinical features and therapeutic response of patients with IgG4-R...

    Authors: Wen An, Zhen Wu, Min Li, Haitian Yu, Xinyan Zhao, Xiaoming Wang, Yu Wang, Qianyi Wang, Weijia Duan, Yuanyuan Kong, Hong Ma, Xiaojuan Ou, Hong You, Yanying Liu, Peng Li, Ting Duan…
    Citation: Orphanet Journal of Rare Diseases 2022 17:307
  16. Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is...

    Authors: Tobias Jürgen Schmidt, Julia Sellin, Gerhard J. Molderings, Rupert Conrad and Martin Mücke
    Citation: Orphanet Journal of Rare Diseases 2022 17:295

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:29

  17. Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies...

    Authors: Bijun Sun, Mi Yang, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Haili Yao, Jinqiao Sun and Xiaochuan Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:292
  18. To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC).

    Authors: Cong Luo, Ye Zhang, Yu-shi Zhang, Ming-Xin Zhang, Jun Ning, Min-Feng Chen, Yuan Li, Lin Qi, Xiong-Bing Zu, Yang-Le Li and Yi Cai
    Citation: Orphanet Journal of Rare Diseases 2022 17:288
  19. Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in ...

    Authors: Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim and Carlos R. Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:273
  20. Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin–proteasome system that provides protein quality control. VCP-associated inclusion body myopath...

    Authors: Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith and Virginia Kimonis
    Citation: Orphanet Journal of Rare Diseases 2022 17:272
  21. Oxidative stress is postulated to have a major role in the pathophysiology of Bechet’s Disease (BD). Growing evidence suggests that vitamin D has important roles in enhancing the expression of anti-inflammator...

    Authors: Heba S. Omar, Fatma Mohamed Taha, Suzanne Fouad, Fatma A. Ibrahim, Aliaa El Gendy, Iman H. Bassyouni and Reem El-Shazly
    Citation: Orphanet Journal of Rare Diseases 2022 17:264
  22. MTOR inhibition is an effective treatment for many manifestations of tuberous sclerosis complex. Because mTOR inhibition is a disease modifying therapy, lifelong use will most likely be necessary. This study a...

    Authors: Femke V. M. Mulder, Evelien F. H. I. Peeters, Jan Westerink, Fried J. T. Zwartkruis and Wendela L. de Ranitz-Greven
    Citation: Orphanet Journal of Rare Diseases 2022 17:252
  23. Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral n...

    Authors: Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté-Bordeneuve, Juan Gonzalez-Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman and Leslie Amass
    Citation: Orphanet Journal of Rare Diseases 2022 17:236
  24. Hereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called “attacks,” usually in the limbs, face, airways, and intestinal tract. New prophylactic therapies have re...

    Authors: Milenka Jean-Baptiste, Robbin Itzler, Subhransu Prusty, Dylan Supina and Mona L. Martin
    Citation: Orphanet Journal of Rare Diseases 2022 17:232
  25. For extreme hereditary hemorrhagic telangiectasia (HHT) disease, treatments such as intravenous bevacizumab are often utilized. However, whether its efficacy is similar across diverse races and ethnicities is ...

    Authors: Panagis Galiatsatos, Cheri Wilson, Jaime O’Brien, Anna J. Gong, Dylan Angiolillo, James Johnson, Carlie Myers, Sara Strout, Stephen Mathai, Gina Robinson, Nicholas R. Rowan and Clifford R. Weiss
    Citation: Orphanet Journal of Rare Diseases 2022 17:220
  26. Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently i...

    Authors: Samantha S. Sattler, Cynthia M. Magro, Lee Shapiro, Jamie F. Merves, Rebecca Levy, Jesse Veenstra and Puraj Patel
    Citation: Orphanet Journal of Rare Diseases 2022 17:172
  27. To investigate the clinical features of multicentric reticulohistiocytosis (MRH).

    Authors: Xiao-juan Zou, Lin Qiao, Feng Li, Hua Chen, Yun-jiao Yang, Dong Xu, Wen-Jie Zheng, Zhen-yu Jiang, Li Wang, Qing-jun Wu and Feng-Chun Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:164
  28. Gorham–Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group...

    Authors: Hong Di, Bingqing Zhang, Na Xu, Yue Yin, Xinxin Han, Yun Zhang and Xuejun Zeng
    Citation: Orphanet Journal of Rare Diseases 2022 17:152
  29. Cystic fibrosis (CF) is a common, life-threatening genetic disease in Caucasians but rarely reported in Chinese population. The prevalence and population-specific genetic spectrum of CF in China needs to be sy...

    Authors: Qi Ni, Xiang Chen, Ping Zhang, Lin Yang, Yulan Lu, Feifan Xiao, Bingbing Wu, Huijun Wang, Wenhao Zhou and Xinran Dong
    Citation: Orphanet Journal of Rare Diseases 2022 17:129
  30. Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal ...

    Authors: David M. Ritter, Bailey K. Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N. Franz, Darcy A. Krueger, Andrew T. Trout and Alexander J. Towbin
    Citation: Orphanet Journal of Rare Diseases 2022 17:124
  31. Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with diverse and complex clinical features and involves multiple human systems. TSC-related neurological abnormalities and organ...

    Authors: Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu and Yi Cai
    Citation: Orphanet Journal of Rare Diseases 2022 17:106
  32. Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal ...

    Authors: Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama and Kei Murayama
    Citation: Orphanet Journal of Rare Diseases 2022 17:78
  33. Prader–Willi syndrome (PWS) is a complex multisystem genetic disorder with distinct genetic and clinical features. Among other clinical symptoms, PWS is characterized by severe infantile hypotonia with feeding...

    Authors: Gisela Vasconcelos, Jo S. Stenehjem, Stefan Axelsson and Ronnaug Saeves
    Citation: Orphanet Journal of Rare Diseases 2022 17:77
  34. There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Ne...

    Authors: G. Hamoy-Jimenez, H. A. Elahmar, M. Mendoza, R. H. Kim, V. Bril and C. Barnett
    Citation: Orphanet Journal of Rare Diseases 2022 17:40
  35. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, Eu...

    Authors: Troels Hvelplund, Bibi Lange, Susanne Djernes Bird, Malene Korsholm and Anette Drøhse Kjeldsen
    Citation: Orphanet Journal of Rare Diseases 2022 17:8
  36. Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by a deregulated neo-angiogenesis. Besides a mainly vascular phenotype (muco-cutaneous telangiectases, arteriovenous malforma...

    Authors: Alexandre Guilhem, Pierre Portalès, Sophie Dupuis-Girod, Sophie Rivière and Thierry Vincent
    Citation: Orphanet Journal of Rare Diseases 2021 16:511
  37. Hepatic arteriovenous malformations (AVMs) in hereditary hemorrhagic telangiectasia (HHT) patients are most commonly hepatic artery to hepatic venous shunts which can result in high-output heart failure. This ...

    Authors: Lucas R. Cusumano, Joseph A. Tesoriero, Craig B. Wilsen, James Sayre, Matthew Quirk and Justin P. McWilliams
    Citation: Orphanet Journal of Rare Diseases 2021 16:478
  38. Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in...

    Authors: M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie and B. Puisac
    Citation: Orphanet Journal of Rare Diseases 2021 16:458
  39. Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease, characterised by fluctuating muscle weakness which makes it challenging to assess symptom severity. Mixed methods psychometrics (MMP), whic...

    Authors: Sophie Cleanthous, Ann-Christin Mork, Antoine Regnault, Stefan Cano, Henry J. Kaminski and Thomas Morel
    Citation: Orphanet Journal of Rare Diseases 2021 16:457
  40. Extremely rare progressive diseases like Sedaghatian-type Spondylometaphyseal Dysplasia (SSMD) can be neonatally lethal and therefore go undiagnosed or are difficult to treat. Recent sequencing efforts have li...

    Authors: Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell, Edward E. Schmidt, Qitao Ran, Reena V. Kartha, Simon C. Johnson, Plavi Mittal, Elias S. J. Arnér, Kristen M. Wigby, Matthew D. Hall and Sanath Kumar Ramesh
    Citation: Orphanet Journal of Rare Diseases 2021 16:446
  41. Behçet’s disease (BD) can involve any site of the alimentary canal. There has been research concerning intestinal BD. Nevertheless, the entire digestive tract not yet been studied extensively. Therefore, the p...

    Authors: Jing-Fen Ye, Cheng-Cheng Hou, Hua-Fang Bao and Jian-Long Guan
    Citation: Orphanet Journal of Rare Diseases 2021 16:444
  42. Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients wit...

    Authors: Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki and Toshifumi Azuma
    Citation: Orphanet Journal of Rare Diseases 2021 16:443
  43. Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, le...

    Authors: David Adams, Vincent Algalarrondo, Michael Polydefkis, Nitasha Sarswat, Michel S. Slama and Jose Nativi-Nicolau
    Citation: Orphanet Journal of Rare Diseases 2021 16:411
  44. Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatmen...

    Authors: K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings and M. E. Faughnan
    Citation: Orphanet Journal of Rare Diseases 2021 16:390
  45. Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare dis...

    Authors: Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo…
    Citation: Orphanet Journal of Rare Diseases 2021 16:374
  46. Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses...

    Authors: Judith Leyens, Tim Th. A. Bender, Martin Mücke, Christiane Stieber, Dmitrij Kravchenko, Christian Dernbach and Matthias F. Seidel
    Citation: Orphanet Journal of Rare Diseases 2021 16:326
  47. Overweight and obesity are common features of the rare disease Bardet–Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in th...

    Authors: Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn, Tara Maki, Hema R. Murali and Robert M. Haws
    Citation: Orphanet Journal of Rare Diseases 2021 16:276
  48. Marfan syndrome (MFS) is a genetically determined systemic connective tissue disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular, musculoskeletal and ocular systems are affected. The...

    Authors: Roland Stengl, Bence Ágg, Miklós Pólos, Gábor Mátyás, Gábor Szabó, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke
    Citation: Orphanet Journal of Rare Diseases 2021 16:245
  49. Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic char...

    Authors: Elena Cristina De Sautu De Borbón, Juan Manuel Guerra Vales, Carlos Lumbreras Bermejo, Felix Guerrero Ramos, María José Buj Padilla, Jesús González de la Aleja and Montserrat Morales Conejo
    Citation: Orphanet Journal of Rare Diseases 2021 16:243
  50. Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90%...

    Authors: Robert Waltereit, Guillaume Beaure d’Augères, Jasna Jancic, John Chris Kingswood, Maya Koleva, Ruben Marques, Vicente Villanueva and Stéphane Auvin
    Citation: Orphanet Journal of Rare Diseases 2021 16:216