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Rare systemic diseases

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. Mastocytosis is a rare disease characterised by the accumulation and/or proliferation of abnormal mast cells (MCs) in one or several organs. It may present with a number of different symptoms that involve vari...

    Authors: Fatma Jendoubi, Maella Severino-Freire, Mathilde Negretto, Christophe Arbus, Carle Paul and Cristina Bulai Livideanu
    Citation: Orphanet Journal of Rare Diseases 2021 16:118
  32. Long-term prophylaxis with subcutaneous C1-inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) in patients with hereditary angioedema (HAE) due to C1-INH deficiency (C1-INH-HAE) was evaluated in an open-label exten...

    Authors: William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Riedl…
    Citation: Orphanet Journal of Rare Diseases 2021 16:86

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:329

  33. Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used...

    Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia
    Citation: Orphanet Journal of Rare Diseases 2021 16:66

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:247

  34. Anti-melanoma differentiation-associated protein-5 (anti-MDA5) positive patients are characterized by the high mortality rate caused by interstitial lung disease (ILD). We conducted a retrospective study to su...

    Authors: Qihua Yang, Tianfang Li, Xin Zhang, Kunlong Lyu, Shujun Wu, Yan Chen, Shengyun Liu and Zujiang Yu
    Citation: Orphanet Journal of Rare Diseases 2021 16:58
  35. Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading...

    Authors: Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox and Michael Pollock
    Citation: Orphanet Journal of Rare Diseases 2021 16:25
  36. Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the gene...

    Authors: K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton and Marie E. Faughnan
    Citation: Orphanet Journal of Rare Diseases 2021 16:12
  37. Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, sev...

    Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz and M. L. Brandi
    Citation: Orphanet Journal of Rare Diseases 2021 16:11
  38. On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of S...

    Authors: Fabio Pagella, Roberta Lizzio, Sara Ugolini, Giuseppe Spinozzi, Eugenia Maiorano, Patrizia Suppressa, Carlo Sabbà and Elina Matti
    Citation: Orphanet Journal of Rare Diseases 2020 15:350
  39. Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage ...

    Authors: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri…
    Citation: Orphanet Journal of Rare Diseases 2020 15:348
  40. Mandible osteomyelitis can occur in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare chronic inflammatory disease; however, few studies have explored its characteristics and man...

    Authors: Mu Wang, Yueting Li, Yihan Cao, Xinyu Lu, Yuchen Liu, Jizhi Zhao, Wen Zhang and Chen Li
    Citation: Orphanet Journal of Rare Diseases 2020 15:312
  41. A strong correlation was previously found between mean platelet volume (MPV), red blood cell distribution width (RDW), and the severity of signs and symptoms in patients suffering from inflammatory and autoimm...

    Authors: Maryam Masoumi, Soraya Shadmanfar, Fereydoun Davatchi, Farhad Shahram, Massoomeh Akhlagi, Tahereh Faezi, Hoda Kavosi, Soroush Moradi and Javad Balasi
    Citation: Orphanet Journal of Rare Diseases 2020 15:297
  42. Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular disease characterized by a heterogeneous clinical presentation and prognosis. Dietary evaluation is relevant in HHT patients to...

    Authors: Federica Cavalcoli, Alberto Gandini, Irene Aglaia Matelloni, Francesca Catalano, Saverio Alicante, Guido Manfredi, Gianfranco Brambilla, Fernanda Menozzi, Federica Perolini, Egon Costi, Roberto Bertè and Elisabetta Buscarini
    Citation: Orphanet Journal of Rare Diseases 2020 15:295
  43. Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited disease affecting multiple organ systems. ATTR-FAP patients’ experiences have rarely been documented. The aim of ...

    Authors: Fabian J. Bolte, Christel Langenstroer, Frauke Friebel, Anna Hüsing-Kabar, Martin Dugas and Hartmut H. Schmidt
    Citation: Orphanet Journal of Rare Diseases 2020 15:287
  44. The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for...

    Authors: Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Björn Pilebro and Jonas Wixner
    Citation: Orphanet Journal of Rare Diseases 2020 15:278
  45. Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...

    Authors: Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie…
    Citation: Orphanet Journal of Rare Diseases 2020 15:253
  46. 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
  47. 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
  48. As lack of awareness of rare diseases (RDs) among healthcare professionals results in delayed diagnoses, there is a need for a more efficient approach to RD training during academic education. We designed an e...

    Authors: S. Sanges, M.-M. Farhat, M. Assaraf, J. Galland, E. Rivière, C. Roubille, M. Lambert, C. Yelnik, H. Maillard, V. Sobanski, G. Lefèvre, D. Launay, S. Morell-Dubois and E. Hachulla
    Citation: Orphanet Journal of Rare Diseases 2020 15:159
  49. Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur...

    Authors: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang and Qi Li
    Citation: Orphanet Journal of Rare Diseases 2020 15:155