Details of Disease

General Information of Disease (ID: DIS3TSKQ)

• Disease Name: Autism spectrum disorder due to AUTS2 deficiency
• Synonyms: ASD due to AUTS2 deficiency; MRD26; autism spectrum disorder due to AUTS2 deficiency; mental retardation, autosomal dominant 26; autosomal dominant mental retardation 26; mental retardation, autosomal dominant type 26; autosomal dominant non-syndromic intellectual disability 26; intellectual disability type 26; intellectual developmental disorder, autosomal dominant 26; AUTS2 syndrome
• Definition: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS3TSKQ: Autism spectrum disorder due to AUTS2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014361
  UMLS CUI: C4014435
  OMIM ID: 615834
  MedGen ID: 862872
  Orphanet ID: 352490

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AUTS2	OTAEXHSC	Strong	Autosomal dominant	[1]

References

• [1] Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.