Skip to main content

Rare systemic diseases

Page 1 of 3

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. Primary hemophagocytic lymphohistiocytosis (pHLH) is a rare and life-threatening disorder, which usually occurs during infancy or early childhood and is characterized by abnormal activation of the immune syste...

    Authors: Annabel Nixon, Elina Roddick, Karen Moore and Diane Wild
    Citation: Orphanet Journal of Rare Diseases 2021 16:205
  47. The global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causing the ongoing coronavirus disease 2019 (COVID-19) pandemic has raised serious concern for patients with chronic...

    Authors: Thomas H. Brannagan III, Michaela Auer-Grumbach, John L. Berk, Chiara Briani, Vera Bril, Teresa Coelho, Thibaud Damy, Angela Dispenzieri, Brian M. Drachman, Nowell Fine, Hanna K. Gaggin, Morie Gertz, Julian D. Gillmore, Esther Gonzalez, Mazen Hanna, David R. Hurwitz…
    Citation: Orphanet Journal of Rare Diseases 2021 16:204
  48. Patients with vasculitis, a set of rare diseases, encounter delays in obtaining an accurate diagnosis which can lead to substantial morbidity and increased mortality. This study sought to describe the diagnost...

    Authors: Antoine G. Sreih, Keri Cronin, Dianne G. Shaw, Kalen Young, Cristina Burroughs, Joyce Kullman, Kirthi Machireddy, Carol A. McAlear and Peter A. Merkel
    Citation: Orphanet Journal of Rare Diseases 2021 16:184
  49. Central nervous system (CNS) involvement is extremely rare in eosinophilic granulomatosis with polyangiitis (EGPA), but is associated with a poor prognosis in the five-factor score. This study aims to elucidat...

    Authors: Suying Liu, Ling Guo, Xiaoyuan Fan, Zhaocui Zhang, Jiaxin Zhou, Xinping Tian, Mengtao Li, Xiaofeng Zeng, Li Wang and Fengchun Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:152
  50. Intestinal Behçet’s syndrome (BS) has high morbidity and mortality rates with serious complications. The purpose of this study was to investigate the clinical characteristics and laboratory parameters of intes...

    Authors: Cheng-cheng Hou, Jing-fen Ye, Hai-fen Ma and Jian-long Guan
    Citation: Orphanet Journal of Rare Diseases 2021 16:132