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Statements

Subject Item

dbr:List_of_OMIM_disorder_codes

dbo:wikiPageWikiLink

dbr:Ogden_syndrome

Subject Item

dbr:Ogden_syndrome

rdf:type

wikidata:Q12136 dbo:Disease owl:Thing

rdfs:label

Ogden syndrome Ogden-Syndrom

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. 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

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Ogden syndrome

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Ogden syndrome

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dbc:Inborn_errors_of_metabolism dbc:Genetic_diseases_and_disorders dbc:Rare_diseases

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41067204

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1109436738

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300855

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276432

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Premature aging appearance-developmental delay-cardiac arrhythmia syndrome, N-terminal acetyltransferase deficiency

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. 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.

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wikipedia-en:Ogden_syndrome?oldid=1109436738&ns=0

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8832

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300855

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276432

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wikipedia-en:Ogden_syndrome

Subject Item

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dbr:Ogden_syndrome

Subject Item

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dbr:Ogden_syndrome