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Rhizomelic chondrodysplasia punctata ( RCDP ) is a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobi ...


Fahr’s disease or Fahr’s syndrome is a rare neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate ...


Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid ( HGA ) to maleylacetoacetic acid in the tyrosine degradation pathway. The three majo ...


Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis ( FAP ) has changed, with duodenal cancer currently being the main cause of death. Although Celecoxib ( Celebre ...


Fabry disease is a rare X-linked hereditary disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase. Males with classical disease are severely affected, while in ...


Chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP ) is a disease causing progressive or relapsing and remitting weakness and numbness. It is probably due to an autoimmune process. Immu ...


Lipodystrophy can be acquired or inherited and results in partially or complete loss of adipose tissue. In the most severe form, congenital generalized lipodystrophy ( CGL ) or Berardinelli–Seip conge ...


Hypersensitivity pneumonitis ( HP ), in Europe called extrinsic or exogenous allergic alveolitis ( EAA ), is a complex syndrome incited by numerous inhaled agents including agricultural dusts, bio-aer ...


Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase alpha-L-iduronidase ( IDUA ). The progressive accumulation ...


The aim of a study was to elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Researchers have iden ...


Neurofibromatosis 1 ( NF1 ) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality because of com ...


Idiopathic pulmonary fibrosis ( IPF ) is a devastating disease that probably involves several genetic loci. Several rare genetic variants and one common single nucleotide polymorphism ( SNP ) of MUC5B ...


To this date, various treatments have been administered to Fahr’s patients in an attempt to achieve remission or at least stabilization. Several approaches based on diverse biological theories and sma ...


VEGF-D is a lymphangiogenic growth factor that has a key role in tumour metastasis. Serum VEGF-D concentrations are increased in most patients with lymphangioleiomyomatosis, a rare neoplasm associated ...


About 40% of responders to treatment for chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP ) remain treatment dependent and have a relapse if treatment is interrupted. The aim of a s ...