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Research
Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a ca...
Orphanet Journal of Rare Diseases 2017 12:131
Published on: 18 July 2017
Review
Behçet’s disease (BD) is a systemic vasculitis characterised by a relapsing remitting course, affecting multiple organ systems. In the eye, it is a cause of potentially blinding inflammation in the form of uve...
Orphanet Journal of Rare Diseases 2017 12:130
Published on: 17 July 2017
Research
Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include rapidly progressive vision loss with abnormal electrophysiolo...
Orphanet Journal of Rare Diseases 2017 12:129
Published on: 15 July 2017
Review
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare oculorenal inflammatory condition that was first described in 1975. In 2001 a major review identified 133 cases in the world literature and pr...
Orphanet Journal of Rare Diseases 2017 12:128
Published on: 14 July 2017
Research
Advances in medical, interventional and surgical treatment have increased average life expectancy of patients with congenital heart defects. As a result a new group of adult patients with congenital cardiac de...
Orphanet Journal of Rare Diseases 2017 12:127
Published on: 12 July 2017
Research
Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the...
Orphanet Journal of Rare Diseases 2017 12:126
Published on: 5 July 2017
Research
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To ac...
Orphanet Journal of Rare Diseases 2017 12:125
Published on: 4 July 2017
Review
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable prese...
Orphanet Journal of Rare Diseases 2017 12:124
Published on: 4 July 2017
Research
Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies fou...
Orphanet Journal of Rare Diseases 2017 12:123
Published on: 30 June 2017
Research
Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (...
Orphanet Journal of Rare Diseases 2017 12:122
Published on: 29 June 2017
Research
Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and...
Orphanet Journal of Rare Diseases 2017 12:120
Published on: 28 June 2017
Research
Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals e...
Orphanet Journal of Rare Diseases 2017 12:121
Published on: 28 June 2017
Research
PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early d...
Orphanet Journal of Rare Diseases 2017 12:118
Published on: 28 June 2017
Research
A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...
Orphanet Journal of Rare Diseases 2017 12:119
Published on: 28 June 2017
Position statement
Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there ar...
Orphanet Journal of Rare Diseases 2017 12:117
Published on: 26 June 2017
Research
Hirschsprung’s disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung’s dise...
Orphanet Journal of Rare Diseases 2017 12:116
Published on: 20 June 2017
Research
Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs ra...
Orphanet Journal of Rare Diseases 2017 12:115
Published on: 19 June 2017
Research
The Orphan Drug Act is an important piece of legislation that uses financial incentives to encourage the development of drugs that treat rare diseases. This analysis studies the effects of a portion of the Orp...
Orphanet Journal of Rare Diseases 2017 12:114
Published on: 19 June 2017
Review
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cogn...
Orphanet Journal of Rare Diseases 2017 12:113
Published on: 17 June 2017
Research
Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease...
Orphanet Journal of Rare Diseases 2017 12:111
Published on: 15 June 2017
Review
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...
Orphanet Journal of Rare Diseases 2017 12:112
Published on: 15 June 2017
Position statement
Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also...
Orphanet Journal of Rare Diseases 2017 12:110
Published on: 12 June 2017
Research
Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans. The pathological accumul...
Orphanet Journal of Rare Diseases 2017 12:109
Published on: 8 June 2017
Research
Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore, patients are often hospitalized long-term or have ...
Orphanet Journal of Rare Diseases 2017 12:108
Published on: 2 June 2017
Research
Severe haemophilia is associated with major psychological and economic burden for patients, caregivers, and the wider health care system. This burden has been quantified and documented for a number of European...
Orphanet Journal of Rare Diseases 2017 12:106
Published on: 31 May 2017
