Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population
In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh wh...Orphanet Journal of Rare Diseases 2020 15:34Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey
The Rare Immunodeficiency, AutoInflammatory and AutoImmune Disease (RITA) network is a European Research Network (ERN) that brings together the leading centres for rare immune disorders. On April 2018 an onlin...Orphanet Journal of Rare Diseases 2020 15:33Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagno...Orphanet Journal of Rare Diseases 2020 15:32Molecular basis of Leigh syndrome: a current look
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neu...Orphanet Journal of Rare Diseases 2020 15:31Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of un...Orphanet Journal of Rare Diseases 2020 15:30Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to invest...Orphanet Journal of Rare Diseases 2020 15:29Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain
Despite the high prevalence of depressive symptoms in Fabry disease (FD), it is unclear which patient characteristics are important in relation to these symptoms. Additionally, the impact of coping styles in r...Orphanet Journal of Rare Diseases 2020 15:28Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism which has been proposed being a benign condition. However, older patients may present with neurological manifestations such...Orphanet Journal of Rare Diseases 2020 15:27Comparison of liver MRI R2(FerriScan®) VS liver MRI T2* as a measure of body iron load in a cohort of beta thalassaemia major patients
To compare the similarity of the non-patented T2* and the high cost patented R2 (Ferriscan®) MRI techniques in the measurement of liver iron concentration (LIC) in heavily transfused patients with thalassaemia...Orphanet Journal of Rare Diseases 2020 15:26Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age
Childhood interstitial lung diseases (ILD) (chILD) refer to a rare heterogeneous group of disorders. Global collaborations have been working on the etiologies and classification scheme of chILD. With the devel...Orphanet Journal of Rare Diseases 2020 15:25Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients
Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the pe...Orphanet Journal of Rare Diseases 2020 15:24A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly...Orphanet Journal of Rare Diseases 2020 15:23A study of voice and non-voice processing in Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obes...Orphanet Journal of Rare Diseases 2020 15:22Asymptomatic intracranial aneurysms in beta-thalassemia: a three-year follow-up report
No information is currently available regarding the natural history of asymptomatic intracranial aneurysms in beta-thalassemia, raising several concerns about their proper management.Orphanet Journal of Rare Diseases 2020 15:21Evaluation of retinal microvascular perfusion in hereditary angioedema: a case-control study
Evidence supports that hereditary angioedema (HAE) may be considered as a paroxysmal permeability disorder with defective but self-limiting endothelial barrier dysfunction. A potential subclinical abnormal vas...Orphanet Journal of Rare Diseases 2020 15:20Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study
Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological si...Orphanet Journal of Rare Diseases 2020 15:19Education and information needs for physicians about rare diseases in Spain
Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be cau...Orphanet Journal of Rare Diseases 2020 15:18European lipodystrophy registry: background and structure
Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because o...Orphanet Journal of Rare Diseases 2020 15:17Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: the European Reference Network TransplantChild
The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patient...Orphanet Journal of Rare Diseases 2020 15:16Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population
ß-thalassemia is one of the most common inherited blood disorders in the world and a major deterrent to the public health of Bangladesh. The management of thalassemia patients requires lifelong frequent blood ...Orphanet Journal of Rare Diseases 2020 15:15Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especia...Orphanet Journal of Rare Diseases 2020 15:14Out-of-pocket expenses for myasthenia gravis patients in China: a study on patients insured by basic medical insurance in China, 2013–2015
Myasthenia gravis is a rare autoimmune neuromuscular disorder. The disorder requires long-term use of expensive medication to control clinical symptoms. This study analyzed the change in trends of total medica...Orphanet Journal of Rare Diseases 2020 15:13Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....Orphanet Journal of Rare Diseases 2020 15:12The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness invo...Orphanet Journal of Rare Diseases 2020 15:11Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study
To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.Orphanet Journal of Rare Diseases 2020 15:10Immunological features of patients affected by Barraquer-Simons syndrome
C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (...Orphanet Journal of Rare Diseases 2020 15:9Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis
The interest in patient demographics and disease management has increased in the past years due to their utility in developing measures that allow healthcare providers to reflect disease complexity.Orphanet Journal of Rare Diseases 2020 15:8Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study
X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teet...Orphanet Journal of Rare Diseases 2020 15:7Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder for which 6 genes in the TGF-β pathway have been identified as causative. With the widespread use of genetic testing, the range of known clinical...Orphanet Journal of Rare Diseases 2020 15:6Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature
Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiect...Orphanet Journal of Rare Diseases 2020 15:5Future treatments for hereditary hemorrhagic telangiectasia
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000–8000 individuals worldwide. This rare disease is characterized by various vascul...Orphanet Journal of Rare Diseases 2020 15:4Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage...Orphanet Journal of Rare Diseases 2020 15:3Healthcare trajectory of children with rare bone disease attending pediatric emergency departments
Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The...Orphanet Journal of Rare Diseases 2020 15:2The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers
Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.Orphanet Journal of Rare Diseases 2020 15:1The evolving therapeutic landscape of genetic skeletal disorders
Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unpa...Orphanet Journal of Rare Diseases 2019 14:300Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children
Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no rep...Orphanet Journal of Rare Diseases 2019 14:299Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group
Subjects with the rare autosomal dominant disease Hereditary Hemorrhagic Telangiectasia (HHT) may develop medical conditions that require antithrombotic therapy (AT). However, safety of AT is uncertain in thes...Orphanet Journal of Rare Diseases 2019 14:298Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature
Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI compli...Orphanet Journal of Rare Diseases 2019 14:297Retinal hyperreflective foci in Fabry disease
Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optic...Orphanet Journal of Rare Diseases 2019 14:296Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-sy...Orphanet Journal of Rare Diseases 2019 14:295Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, gene...Orphanet Journal of Rare Diseases 2019 14:294Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison study
Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior. This study attempted to comp...Orphanet Journal of Rare Diseases 2019 14:293Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report
Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. So far, the epidemiological data on them are limited in China. The aim of our study is ...Orphanet Journal of Rare Diseases 2019 14:292Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder whose oral manifestations and dental phenotypes have not been well-characterized. The aim of this study was to explore the influence of oral mani...Orphanet Journal of Rare Diseases 2019 14:291Expanding the clinical and genetic spectrum of Heimler syndrome
Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be dia...Orphanet Journal of Rare Diseases 2019 14:290Rare diseases in Chile: challenges and recommendations in universal health coverage context
Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients...Orphanet Journal of Rare Diseases 2019 14:289Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because...Orphanet Journal of Rare Diseases 2019 14:288An analysis of orphan medicine expenditure in Europe: is it sustainable?
Orphan medicinal product (OMP) prices are considered by some to be a challenge to the sustainability of healthcare expenditure. These concerns are compounded by the increasing number of OMPs receiving marketin...Orphanet Journal of Rare Diseases 2019 14:287Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire
Fabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity. Due to the heterogeneity of disease presentation and progression, generic patient-rep...Orphanet Journal of Rare Diseases 2019 14:284Cutis marmorata telangiectatica congenita: a literature review
Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and bod...Orphanet Journal of Rare Diseases 2019 14:283
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