Details of Disease

General Information of Disease (ID: DISLI754)

• Disease Name: Ogden syndrome
• Synonyms: NAT1 deficiency; arylamine n-acetyltransferase 1; N acetyltransferase deficiency; N acetyltransferase 1 deficiency; Acetyl-CoA:arylamine n-acetyltransferase; premature aging appearance-developmental delay-cardiac arrhythmia syndrome; OGDNS; Ogden syndrome, X-linked recessive, X-linked dominant; Ogden syndrome; N-alpha-acetyltransferase; N-terminal acetyltransferase deficiency; X-linked malformation and infantile lethality syndrome; premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
• Definition: Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.|Editor note: check GARD
• Disease Hierarchy:
  DISSLPEK: Progeroid syndrome
  DISVSZYQ: NAA10-related syndrome
  DISLI754: Ogden syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010457
  UMLS CUI: C3275447
  OMIM ID: 300855
  MedGen ID: 477078
  Orphanet ID: 276432
  SNOMED CT ID: 771442003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAA15	OT53SIZG	Strong	Genetic Variation	[1]
NAA50	OTFJ8S47	Strong	Biomarker	[1]
ARHGAP4	OTXV053R	Definitive	Genetic Variation	[2]
NAA10	OTYB9R6I	Definitive	X-linked recessive	[3]

References

• [1] Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.Hum Mol Genet. 2015 Apr 1;24(7):1956-76. doi: 10.1093/hmg/ddu611. Epub 2014 Dec 8.
• [2] Lessons learned from additional research analyses of unsolved clinical exome cases.Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.
• [3] Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23.