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Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of Rapamycin ( mTOR ), and are common in patients with tuberous sclerosis complex and sporadic lymp ...


Interleukin-36 receptor antagonist deficiency ( DITRA ) is a hereditary auto-inflammatory disease characterized by repeated flares of generalized pustular psoriasis ( GPP ). The flares include sudden ...


Severe hypertriglyceridemia ( fasting triglycerides above 1000 mg/dl ) is a common condition that occurs in 1:600 individuals. Clinical features include hepatomegaly, eruptive xantomatosis, lipemia re ...


Enzyme replacement therapy ( ERT ) is the standard therapy for Fabry disease. Enzyme replacement therapy partially cleared microvascular deposits of GL-3 from the heart, kidney and skin of most Fabry ...


Oculomotor apraxia ( OMA ) associated with cerebellar ataxia was first noted by Boder and Sedgwick in patients with ataxia-telangiectasia ( A-T ). This abnormality of eye movements consists of an impa ...


Barth syndrome is an X-linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3-methylglutaconic aciduria ( 3-MGCA ).Researchers have reported on two affected brothers w ...


Hyperprolactinemia that is not associated with gestation or the puerperium is usually due to tumors in the anterior pituitary gland and occurs occasionally in hereditary multiple endocrine neoplasia s ...


Pulmonary alveolar proteinosis ( PAP ) is a rare disorder characterised by abundant alveolar accumulation of surfactant lipoproteins. Serum levels of KL-6, high molecular weight human MUC1 mucin, are ...


Malignant atrophic papulosis ( Köhlmeier-Degos disease; MAP ) is an uncommon endotheliopathy with pathological findings similar to the vascular lesions of systemic sclerosis. These two disorders can o ...


Ivacaftor ( Kalydeco ) has shown a clinical benefit in patients with cystic fibrosis who have the G551D-CFTR mutation and reduced lung function. Lung clearance index ( LCI ) using multiple-breath wash ...


NLRP12-associated periodic syndrome ( NAPS12 ) is characterized by recurrent periods of fever, combined with various systemic manifestations such as myalgia, arthralgia, headaches and skin urticarial- ...


Floating-Harbor syndrome ( FHS ) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in ...


Hypersensitivity pneumonitis ( HP ) also called exogenous allergic alveolitis = extrinsic allergic alveolitis in children is an uncommon condition and may not be recognized and treated appropriately.T ...


The objective of the study was to analyse diagnostic value of somato-sensory evoked potentials ( SEP ), magnetic resonance imaging ( MRI ), and clinical neurological examination in the decision for de ...


The results from Northera ( Droxidopa ) Study 306 were presented at the American Academy of Neurology ( AAN ) 65th Annual Meeting.Neurogenic orthostatic hypotension ( NOH ) is a rare disorder that is ...