Matches in DBpedia 2014 for { <http://dbpedia.org/resource/De_Barsy_syndrome> ?p ?o. }
Showing items 1 to 42 of
42
with 100 items per page.
- De_Barsy_syndrome abstract "De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide. The genes that cause De Barsy syndrome have not been identified yet, although several studies have narrowed down the symptoms' cause. A study by Reversade et al. has shown that a mutation in PYCR1, the genetic sequence that codes for mitochondrial enzymes that break down proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome. A study by Leao-Teles et al. has shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system.Alternative names for De Barsy syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.".
- De_Barsy_syndrome diseasesdb "33717".
- De_Barsy_syndrome icd10 "none".
- De_Barsy_syndrome icd9 "none".
- De_Barsy_syndrome meshId "C535990".
- De_Barsy_syndrome wikiPageExternalLink viewAbstract.
- De_Barsy_syndrome wikiPageExternalLink MB_cgi?term=De%20Barsy%20syndrome.
- De_Barsy_syndrome wikiPageID "32744230".
- De_Barsy_syndrome wikiPageRevisionID "600780918".
- De_Barsy_syndrome diseasesdb "33717".
- De_Barsy_syndrome hasPhotoCollection De_Barsy_syndrome.
- De_Barsy_syndrome icd "none".
- De_Barsy_syndrome meshid "535990.0".
- De_Barsy_syndrome name "De Barsy syndrome".
- De_Barsy_syndrome subject Category:Autosomal_recessive_disorders.
- De_Barsy_syndrome subject Category:Genetic_disorders.
- De_Barsy_syndrome subject Category:Progeroid_syndromes.
- De_Barsy_syndrome type Abstraction100002137.
- De_Barsy_syndrome type Attribute100024264.
- De_Barsy_syndrome type Condition113920835.
- De_Barsy_syndrome type Disease114070360.
- De_Barsy_syndrome type GeneticDisease114151139.
- De_Barsy_syndrome type GeneticDisorders.
- De_Barsy_syndrome type IllHealth114052046.
- De_Barsy_syndrome type Illness114061805.
- De_Barsy_syndrome type PathologicalState114051917.
- De_Barsy_syndrome type PhysicalCondition114034177.
- De_Barsy_syndrome type State100024720.
- De_Barsy_syndrome type Disease.
- De_Barsy_syndrome type Situation.
- De_Barsy_syndrome comment "De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide.".
- De_Barsy_syndrome label "De Barsy syndrome".
- De_Barsy_syndrome label "Sindrome di de Barsy".
- De_Barsy_syndrome sameAs De-Barsy-Syndrom.
- De_Barsy_syndrome sameAs Sindrome_di_de_Barsy.
- De_Barsy_syndrome sameAs m.0h3n4s5.
- De_Barsy_syndrome sameAs Q3961699.
- De_Barsy_syndrome sameAs Q3961699.
- De_Barsy_syndrome sameAs De_Barsy_syndrome.
- De_Barsy_syndrome wasDerivedFrom De_Barsy_syndrome?oldid=600780918.
- De_Barsy_syndrome isPrimaryTopicOf De_Barsy_syndrome.
- De_Barsy_syndrome name "De Barsy syndrome".