Details of Disease

General Information of Disease (ID: DIS2QHVZ)

• Disease Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
• Synonyms: intellectual disability, autosomal dominant 32; mental retardation, autosomal dominant 32; autosomal dominant non-syndromic intellectual disability 32; MRD32; autosomal dominant mental retardation 32; mental retardation, autosomal dominant type 32; Arboleda-Tham syndrome; autosomal dominant intellectual disability 32; intellectual disability, autosomal dominant type 32; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; KAT6A Syndrome
• Definition: A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISEUVBK: Syndromic craniosynostosis
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS2QHVZ: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014558
  UMLS CUI: C4225396
  OMIM ID: 616268
  MedGen ID: 903767
  Orphanet ID: 457193
  SNOMED CT ID: 1255319004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KAT6A	TT6O1J0	Strong	Biomarker	[1]
KAT6A	TT6O1J0	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KAT6A	OT4TSQLG	Definitive	Autosomal dominant	[2]

References

• [1] KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.
• [2] De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26.