An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Ogden syndrome, also known as N-terminal acetyltransferase deficiency (NATD), is an X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and spontaneous cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C (p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase enzyme system (NatA). This same mutation was identified in a second unrelated family, with three affected boys in two generations. This severe genetic disorder has provisionally been named Ogden syndrome, as th

Property Value
dbo:abstract
  • Das Ogden-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen vorzeitig gealtertes Aussehen, Entwicklungsverzögerung kombiniert mit Herzrhythmusstörung. Die Bezeichnung bezieht sich auf die Stadt Ogden im US-Bundesstaat Utah, wo die erstbeschriebene Familie wohnte. Das Syndrom ist nicht mit dem Zuelzer-Ogden-Syndrom zu verwechseln, einer megaloblastischen Anämie. (de)
  • Ogden syndrome, also known as N-terminal acetyltransferase deficiency (NATD), is an X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and spontaneous cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C (p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase enzyme system (NatA). This same mutation was identified in a second unrelated family, with three affected boys in two generations. This severe genetic disorder has provisionally been named Ogden syndrome, as this is the city where the first affected family resides. (en)
dbo:omim
  • 300855 (xsd:integer)
dbo:orpha
  • 276432
dbo:wikiPageExternalLink
dbo:wikiPageID
  • 41067204 (xsd:integer)
dbo:wikiPageLength
  • 8832 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID
  • 1109436738 (xsd:integer)
dbo:wikiPageWikiLink
dbp:name
  • Ogden syndrome (en)
dbp:omim
  • 300855 (xsd:integer)
dbp:orphanet
  • 276432 (xsd:integer)
dbp:synonyms
  • Premature aging appearance-developmental delay-cardiac arrhythmia syndrome, N-terminal acetyltransferase deficiency (en)
dbp:wikiPageUsesTemplate
dcterms:subject
rdf:type
rdfs:comment
  • Das Ogden-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen vorzeitig gealtertes Aussehen, Entwicklungsverzögerung kombiniert mit Herzrhythmusstörung. Die Bezeichnung bezieht sich auf die Stadt Ogden im US-Bundesstaat Utah, wo die erstbeschriebene Familie wohnte. Das Syndrom ist nicht mit dem Zuelzer-Ogden-Syndrom zu verwechseln, einer megaloblastischen Anämie. (de)
  • Ogden syndrome, also known as N-terminal acetyltransferase deficiency (NATD), is an X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and spontaneous cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C (p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase enzyme system (NatA). This same mutation was identified in a second unrelated family, with three affected boys in two generations. This severe genetic disorder has provisionally been named Ogden syndrome, as th (en)
rdfs:label
  • Ogden-Syndrom (de)
  • Ogden syndrome (en)
owl:sameAs
prov:wasDerivedFrom
foaf:isPrimaryTopicOf
foaf:name
  • Ogden syndrome (en)
is dbo:wikiPageRedirects of
is dbo:wikiPageWikiLink of
is foaf:primaryTopic of
Powered by OpenLink Virtuoso    This material is Open Knowledge     W3C Semantic Web Technology     This material is Open Knowledge    Valid XHTML + RDFa
This content was extracted from Wikipedia and is licensed under the Creative Commons Attribution-ShareAlike 3.0 Unported License