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  1. Chronic active Epstein-Barr virus infection (CAEBV) is a rare but life-threatening progressive disease. Human leukocyte antigen (HLA)-haploidentical hematopoietic stem cell transplantation (haplo-HSCT) is the ...

    Authors: Rongmu Luo, Xiaomei Zhang, Ya Wang, Qihang Man, Wenjing Gu, Zhengqin Tian and Jingbo Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:422
  2. ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Aut...

    Authors: Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch and Carlos R. Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:421
  3. Idiopathic inflammatory myopathies (IIM) are a heterogenous group of rare muscular autoimmune diseases characterised by skeletal muscle inflammation with possible diagnostic delay. Our aim was to review the ex...

    Authors: Tergel Namsrai, Anne Parkinson, Anita Chalmers, Christine Lowe, Matthew Cook, Christine Phillips and Jane Desborough
    Citation: Orphanet Journal of Rare Diseases 2022 17:420
  4. The ATP-binding cassette subfamily B member 4 (ABCB4) gene encodes the hepatic phospholipid transporter. Variants in the ABCB4 gene are associated with various cholestatic phenotypes, some of which progress to li...

    Authors: Beata Kruk, Malgorzata Milkiewicz, Joanna Raszeja-Wyszomirska, Piotr Milkiewicz and Marcin Krawczyk
    Citation: Orphanet Journal of Rare Diseases 2022 17:419
  5. According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain th...

    Authors: Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz and Verónica Alonso-Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:418
  6. Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for m...

    Authors: Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist and Manuel Schiff
    Citation: Orphanet Journal of Rare Diseases 2022 17:417
  7. Individuals with familial adenomatous polyposis (FAP) harbor numerous polyps with inevitable early progression to colon cancer. Complex microbiotic-tumor microenvironment perturbations suggest a dysbiotic rela...

    Authors: Thomas M. Attard, Seth Septer, Caitlin E. Lawson, Mark I. Attard, Sonny T. M. Lee and Shahid Umar
    Citation: Orphanet Journal of Rare Diseases 2022 17:416
  8. Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were de...

    Authors: Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin and Martin B. Delatycki
    Citation: Orphanet Journal of Rare Diseases 2022 17:415
  9. To analyze the ultrasound imaging and clinical characteristics of fetuses with umbilical artery thrombosis (UAT), explore the potential causes of UAT and construct a prognostic prediction model to guide clinic...

    Authors: Xiafang Wu, Chenchen Wei, Ruifeng Chen, Linxian Yang, Weifei Huang, Liang Huang, XinXin Yan, Xuedong Deng and Zhongshan Gou
    Citation: Orphanet Journal of Rare Diseases 2022 17:414
  10. Renal hypodysplasia/aplasia-3 (RHDA3), as the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract, is mainly caused by mutations in GREB1L. However, the mutations in GREB1L ide...

    Authors: Sixian Wu, Xiang Wang, Siyu Dai, Guohui Zhang, Jiaojiao Zhou and Ying Shen
    Citation: Orphanet Journal of Rare Diseases 2022 17:413
  11. X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol. Beside rickets, ...

    Authors: Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler and Agnès Linglart
    Citation: Orphanet Journal of Rare Diseases 2022 17:412
  12. CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and prem...

    Authors: Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer and Jill M. Weimer
    Citation: Orphanet Journal of Rare Diseases 2022 17:411
  13. Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatal...

    Authors: Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2022 17:410
  14. Inherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because gene therapy for RPE65-associated IRDs was recently approved, it is nece...

    Authors: Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha and Chang-Seok Ki
    Citation: Orphanet Journal of Rare Diseases 2022 17:409
  15. Extremely high prices facilitate drug development for ultra-rare diseases (ultra-orphan drugs). However, various problems arise in terms of healthcare financing and fairness, and the status of ultra-orphan dru...

    Authors: Akihiko Kawakami and Ken Masamune
    Citation: Orphanet Journal of Rare Diseases 2022 17:408
  16. Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyel...

    Authors: Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira…
    Citation: Orphanet Journal of Rare Diseases 2022 17:407
  17. Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy...

    Authors: Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha and Roger Cornwall
    Citation: Orphanet Journal of Rare Diseases 2022 17:406
  18. 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
  19. Studies have reported that a noncoding hexanucleotide repeat in C9ORF72, is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasian population, never...

    Authors: Xunzhe Yang, Xiaohai Sun, Qing Liu, Liyang Liu, Jinyue Li, Zhengyi Cai, Kang Zhang, Shuangwu Liu, Di He, Dongchao Shen, Mingsheng Liu, Liying Cui and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:404
  20. Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and sever...

    Authors: Georgina Morton, Sophie Thomas, Pat Roberts, Vivienne Clark, Jackie Imrie and Alexandra Morrison
    Citation: Orphanet Journal of Rare Diseases 2022 17:403
  21. Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S), respectively. These are rare lysosomal storage disorders,...

    Authors: Federico Spataro, Fabio Viggiani, Domenico Giorgio Macchia, Valentina Rollo, Albina Tummolo, Patrizia Suppressa, Carlo Sabba’, Maria Pia Rossi, Lucia Giliberti, Francesco Satriano, Eustachio Nettis, Danilo Di Bona, Maria Filomena Caiaffa, Rita Fischetto and Luigi Macchia
    Citation: Orphanet Journal of Rare Diseases 2022 17:402
  22. Gaucher disease (GD) is an autosomal recessive disease caused by GBA1 mutations resulting in glucosylceramide accumulation in macrophages. GD is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone...

    Authors: Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue and Jovelle Fernandez
    Citation: Orphanet Journal of Rare Diseases 2022 17:401
  23. To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in treatment with cysteamine. Since this method is time and sample consuming, development...

    Authors: Martina Franzin, Silvia Rossetto, Rachele Ruoso, Rossella Del Savio, Gabriele Stocco, Giuliana Decorti and Riccardo Addobbati
    Citation: Orphanet Journal of Rare Diseases 2022 17:400
  24. Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. ...

    Authors: Yinshi Guo, Huanping Zhang, He Lai, Huiying Wang, Herberto J. Chong-Neto, Solange O. R. Valle and Rongfei Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:399
  25. Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limitin...

    Authors: C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros and V. dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:398
  26. Although Osteogenesis Imperfecta (OI) affects the connective tissue, pulmonary function might be compromised because of thoracic deformities. OI is known to be a restrictive lung disease, but spirometry provid...

    Authors: Antonella LoMauro, Davide Lacca, Vittorio Landoni and Andrea Aliverti
    Citation: Orphanet Journal of Rare Diseases 2022 17:397
  27. More people with rare diseases likely receive disease education and emotional and practical support from peer-led support groups than any other way. Most rare-disease support groups are delivered outside of th...

    Authors: Brett D. Thombs, Brooke Levis, Marie-Eve Carrier, Laura Dyas, Julia Nordlund, Lydia Tao, Kylene Aguila, Angelica Bourgeault, Violet Konrad, Maureen Sauvé, Kerri Connolly, Richard S. Henry, Nora Østbø, Alexander W. Levis, Linda Kwakkenbos, Vanessa L. Malcarne…
    Citation: Orphanet Journal of Rare Diseases 2022 17:396
  28. In children with phenylketonuria (PKU), transitioning protein substitutes at the appropriate developmental age is essential to help with their long-term acceptance and ease of administration. We assessed the p...

    Authors: Ozlem Yilmaz, Alex Pinto, Anne Daly, Catherine Ashmore, Sharon Evans, Nurcan Yabanci Ayhan and Anita MacDonald
    Citation: Orphanet Journal of Rare Diseases 2022 17:395
  29. Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death.

    Authors: Jia Chen, Hong Li, Sicheng Guo, Zhe Yang, Shaoping Sun, JunJie Zeng, Hongjuan Gou, Yechang Chen, Feng Wang, Yanping Lin, Kun Huang, Hong Yue, Yuting Ma and Yubi Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:394
  30. Eosinophilic meningitis (EOM) is a rare neurological disease that can be misdiagnosed or underdiagnosed. Based on reported cases in the literature, there have been 2,827 cases worldwide since 1945. There are l...

    Authors: Sittichai Khamsai, Verajit Chotmongkol, Somsak Tiamkao, Wanchai Maleewong, Panita Limpawattana, Watchara Boonsawat, Bundit Sawunyavisuth, Noppadol Aekphachaisawat and Kittisak Sawanyawisuth
    Citation: Orphanet Journal of Rare Diseases 2022 17:393
  31. Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype–phenotype correlations have b...

    Authors: Jia-Tong Li, Ze-Xu Chen, Xiang-Jun Chen and Yong-Xiang Jiang
    Citation: Orphanet Journal of Rare Diseases 2022 17:392
  32. Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive ...

    Authors: Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton and Cara O’Neill
    Citation: Orphanet Journal of Rare Diseases 2022 17:391
  33. Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their chi...

    Authors: Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa and Barbara B. Biesecker
    Citation: Orphanet Journal of Rare Diseases 2022 17:390
  34. Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and th...

    Authors: Nathan Denton, Andrew E. Mulberg, Monique Molloy, Samantha Charleston, David C. Fajgenbaum, Eric D. Marsh and Paul Howard
    Citation: Orphanet Journal of Rare Diseases 2022 17:389
  35. Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-...

    Authors: Zuhair Al Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi and Amal Al Teneiji
    Citation: Orphanet Journal of Rare Diseases 2022 17:388
  36. Authors: Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer and Tim Hagenacker
    Citation: Orphanet Journal of Rare Diseases 2022 17:387

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:276

  37. Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL ...

    Authors: Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C. Alejandra Morato Torres, Faria Zafar, Birgitt Schüle, Jonathan Neumann, Eli Hatchwell and Virginia Kimonis
    Citation: Orphanet Journal of Rare Diseases 2022 17:386
  38. Drug-resistant epilepsy is one of the most important features of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder. The ketogenic diet (KD) may be effective for patients with CDKL5-related epilepsy, b...

    Authors: Jie Zhang, Jiayi Ma, Xuting Chang, Pengxia Wu, Shangru Li and Ye Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:385
  39. The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the trea...

    Authors: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner…
    Citation: Orphanet Journal of Rare Diseases 2022 17:384
  40. Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression diff...

    Authors: Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak and Barbara Sjouke
    Citation: Orphanet Journal of Rare Diseases 2022 17:383
  41. The genomic landscape of breast malignant phyllodes tumors (PTs) is not well defined, especially pregnancy-related malignant PTs. To clarify this topic, whole-exome next-generation sequencing (NGS) was perform...

    Authors: Tinge Lei, Mengjia Shen, Xu Deng, Yongqiang Shi, Yan Peng, Hui Wang and Tongbing Chen
    Citation: Orphanet Journal of Rare Diseases 2022 17:382
  42. 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
  43. People with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of experts in a country who are then able to provide guidance to others in ...

    Authors: Tanzil Rujeedawa, Nora McNairney, Shelly Cordner, James O’Brien, Georgina Loughnan and Anthony Holland
    Citation: Orphanet Journal of Rare Diseases 2022 17:380
  44. Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuoliza...

    Authors: Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer and Sarah C. Grünert
    Citation: Orphanet Journal of Rare Diseases 2022 17:379
  45. Retinitis pigmentosa (RP) is a hereditary retinal disease which leads to visual impairment. The onset and progression of RP has physiological consequences that affects the ocular environment. Some of the key n...

    Authors: K. Varsha Mohan, Alaknanda Mishra, Abaranjitha Muniyasamy, Prakriti Sinha, Parul Sahu, Ashwani Kesarwani, Kshama Jain, Perumal Nagarajan, Vinod Scaria, Manisha Agarwal, Naseem S. Akhter, Chanda Gupta and Pramod Upadhyay
    Citation: Orphanet Journal of Rare Diseases 2022 17:378
  46. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal...

    Authors: Jodi Y. So, Jaron Nazaroff, Chinonso V. Iwummadu, Nicki Harris, Emily S. Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M. Peter Marinkovich, Jean Y. Tang and Albert S. Chiou
    Citation: Orphanet Journal of Rare Diseases 2022 17:377
  47. 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
  48. Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address t...

    Authors: Charlotte von der Lippe, Ingrid Neteland and Kristin Billaud Feragen
    Citation: Orphanet Journal of Rare Diseases 2022 17:375
  49. Lysosomal storage disorders (LSD) are rare diseases, caused by inherited deficiencies of lysosomal enzymes/transporters, that affect 1 in 7000 to 1 in 8000 newborns. Individuals with LSDs face long diagnostic ...

    Authors: P. K. Mistry, P. Kishnani, C. Wanner, D. Dong, J. Bender, J. L. Batista and J. Foster
    Citation: Orphanet Journal of Rare Diseases 2022 17:362
  50. Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HIN...

    Authors: Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S. Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova and Kristien Peeters
    Citation: Orphanet Journal of Rare Diseases 2022 17:374