Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Urbach–Wiethe_disease> ?p ?o }
- Urbach–Wiethe_disease abstract "Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with approximately 400 reported cases since its discovery. It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, although cases may be recognized dating back as early as 1908.The symptoms of the disease vary greatly from individual to individual. They may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids. All of these are results of a general thickening of the skin and mucous membranes. In some cases there is also a hardening of brain tissue in the medial temporal lobes, which can lead to epilepsy and neuropsychiatric abnormalities. The disease is typically not life-threatening and patients do not show a decreased life span.Because Urbach–Wiethe disease is an autosomal recessive condition, individuals can be carriers of the disease but show no symptoms. The disease is caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. The dermatological symptoms are caused by a buildup of a hyaline material in the dermis and the thickening of the basement membranes in the skin. Urbach–Wiethe disease is typically diagnosed by its clinical dermatological manifestations, particularly the beaded papules on the eyelids. The discovery of the mutations within the ECM1 gene has allowed the use of genetic testing to confirm an initial clinical diagnosis. Periodic acid-Schiff (PAS) and immunohistochemical staining may also be used for diagnosis.Currently, there is no cure for Urbach–Wiethe disease although there are ways to individually treat many of its symptoms. The discovery of the mutations of the ECM1 gene has opened the possibility of gene therapy or a recombinant ECM1 protein for Urbach–Wiethe disease treatment, but neither of these options is currently available. Some researchers are examining patients with Urbach–Wiethe disease to learn more about other conditions that exhibit similar neurological symptoms, such as autism.".
- Urbach–Wiethe_disease icd10 "E78.8".
- Urbach–Wiethe_disease icd9 "272.8".
- Urbach–Wiethe_disease meshId "D008065".
- Urbach–Wiethe_disease omim "247100".
- Urbach–Wiethe_disease wikiPageExternalLink 924.html.
- Urbach–Wiethe_disease wikiPageExternalLink 15.pdf.
- Urbach–Wiethe_disease wikiPageID "20496126".
- Urbach–Wiethe_disease wikiPageLength "19749".
- Urbach–Wiethe_disease wikiPageOutDegree "113".
- Urbach–Wiethe_disease wikiPageRevisionID "682385342".
- Urbach–Wiethe_disease wikiPageWikiLink Amygdala.
- Urbach–Wiethe_disease wikiPageWikiLink Amyloidosis.
- Urbach–Wiethe_disease wikiPageWikiLink Anatomical_terms_of_location.
- Urbach–Wiethe_disease wikiPageWikiLink Antibody.
- Urbach–Wiethe_disease wikiPageWikiLink Anxiety.
- Urbach–Wiethe_disease wikiPageWikiLink Atherosclerosis.
- Urbach–Wiethe_disease wikiPageWikiLink Autism.
- Urbach–Wiethe_disease wikiPageWikiLink Autism_spectrum.
- Urbach–Wiethe_disease wikiPageWikiLink Autistic.
- Urbach–Wiethe_disease wikiPageWikiLink Autosomal_recessive.
- Urbach–Wiethe_disease wikiPageWikiLink Basel.
- Urbach–Wiethe_disease wikiPageWikiLink Basement_membrane.
- Urbach–Wiethe_disease wikiPageWikiLink Blood_vessel.
- Urbach–Wiethe_disease wikiPageWikiLink Buccal_mucosa.
- Urbach–Wiethe_disease wikiPageWikiLink CT_scan.
- Urbach–Wiethe_disease wikiPageWikiLink Calcification.
- Urbach–Wiethe_disease wikiPageWikiLink Calcium.
- Urbach–Wiethe_disease wikiPageWikiLink Camillo_Wiethe.
- Urbach–Wiethe_disease wikiPageWikiLink Carbon_dioxide.
- Urbach–Wiethe_disease wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Urbach–Wiethe_disease wikiPageWikiLink Category:Lipid_metabolism_disorders.
- Urbach–Wiethe_disease wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Urbach–Wiethe_disease wikiPageWikiLink Chromosome.
- Urbach–Wiethe_disease wikiPageWikiLink Collagen.
- Urbach–Wiethe_disease wikiPageWikiLink Computed_tomography.
- Urbach–Wiethe_disease wikiPageWikiLink Cornea.
- Urbach–Wiethe_disease wikiPageWikiLink Corneal.
- Urbach–Wiethe_disease wikiPageWikiLink Deletion_(genetics).
- Urbach–Wiethe_disease wikiPageWikiLink Deletion_mutation.
- Urbach–Wiethe_disease wikiPageWikiLink Dentistry.
- Urbach–Wiethe_disease wikiPageWikiLink Dermatological.
- Urbach–Wiethe_disease wikiPageWikiLink Dermatology.
- Urbach–Wiethe_disease wikiPageWikiLink Dermoepidermal_junction.
- Urbach–Wiethe_disease wikiPageWikiLink Diagnosis.
- Urbach–Wiethe_disease wikiPageWikiLink Dimethyl_sulfoxide.
- Urbach–Wiethe_disease wikiPageWikiLink Disease.
- Urbach–Wiethe_disease wikiPageWikiLink Dominance_(genetics).
- Urbach–Wiethe_disease wikiPageWikiLink Dutch_people.
- Urbach–Wiethe_disease wikiPageWikiLink Dysphonia.
- Urbach–Wiethe_disease wikiPageWikiLink ECM1.
- Urbach–Wiethe_disease wikiPageWikiLink Encephalitis.
- Urbach–Wiethe_disease wikiPageWikiLink Epiglottis.
- Urbach–Wiethe_disease wikiPageWikiLink Epilepsy.
- Urbach–Wiethe_disease wikiPageWikiLink Erich_Urbach.
- Urbach–Wiethe_disease wikiPageWikiLink Etretinate.
- Urbach–Wiethe_disease wikiPageWikiLink Eyelid.
- Urbach–Wiethe_disease wikiPageWikiLink Face.
- Urbach–Wiethe_disease wikiPageWikiLink Focal_degeneration.
- Urbach–Wiethe_disease wikiPageWikiLink Founder_effect.
- Urbach–Wiethe_disease wikiPageWikiLink Frameshift_mutation.
- Urbach–Wiethe_disease wikiPageWikiLink Frenulum.
- Urbach–Wiethe_disease wikiPageWikiLink Friedrich_Miescher.
- Urbach–Wiethe_disease wikiPageWikiLink Genetic_carrier.
- Urbach–Wiethe_disease wikiPageWikiLink Genetic_testing.
- Urbach–Wiethe_disease wikiPageWikiLink German_people.
- Urbach–Wiethe_disease wikiPageWikiLink Germans.
- Urbach–Wiethe_disease wikiPageWikiLink Glycolipid.
- Urbach–Wiethe_disease wikiPageWikiLink Glycoprotein.
- Urbach–Wiethe_disease wikiPageWikiLink Glycosaminoglycan.
- Urbach–Wiethe_disease wikiPageWikiLink Gyrus.
- Urbach–Wiethe_disease wikiPageWikiLink Hair_loss.
- Urbach–Wiethe_disease wikiPageWikiLink Heparin.
- Urbach–Wiethe_disease wikiPageWikiLink Herpes_simplex.
- Urbach–Wiethe_disease wikiPageWikiLink Hoarse.
- Urbach–Wiethe_disease wikiPageWikiLink Hyaline.
- Urbach–Wiethe_disease wikiPageWikiLink Immunohistochemistry.
- Urbach–Wiethe_disease wikiPageWikiLink Infancy.
- Urbach–Wiethe_disease wikiPageWikiLink Infant.
- Urbach–Wiethe_disease wikiPageWikiLink Infiltration_(medical).
- Urbach–Wiethe_disease wikiPageWikiLink Joris_van_Os.
- Urbach–Wiethe_disease wikiPageWikiLink Khoisan.
- Urbach–Wiethe_disease wikiPageWikiLink Lesion.
- Urbach–Wiethe_disease wikiPageWikiLink Lesions.
- Urbach–Wiethe_disease wikiPageWikiLink Life_expectancy.
- Urbach–Wiethe_disease wikiPageWikiLink Lipid.
- Urbach–Wiethe_disease wikiPageWikiLink List_of_cutaneous_conditions.
- Urbach–Wiethe_disease wikiPageWikiLink List_of_radiographic_findings_associated_with_cutaneous_conditions.
- Urbach–Wiethe_disease wikiPageWikiLink Macula.
- Urbach–Wiethe_disease wikiPageWikiLink Macula_of_retina.
- Urbach–Wiethe_disease wikiPageWikiLink Magnetic_resonance_imaging.
- Urbach–Wiethe_disease wikiPageWikiLink Medial_temporal_lobe.
- Urbach–Wiethe_disease wikiPageWikiLink Medical_literature.
- Urbach–Wiethe_disease wikiPageWikiLink Mucopolysaccharide.
- Urbach–Wiethe_disease wikiPageWikiLink Mucopolysaccharidosis.
- Urbach–Wiethe_disease wikiPageWikiLink Mucous_membrane.
- Urbach–Wiethe_disease wikiPageWikiLink Mutation.
- Urbach–Wiethe_disease wikiPageWikiLink Neuroimaging.
- Urbach–Wiethe_disease wikiPageWikiLink Neurological.
- Urbach–Wiethe_disease wikiPageWikiLink Neurology.