Details of Disease

General Information of Disease (ID: DISPGWOW)

• Disease Name: Macrocephaly-autism syndrome
• Synonyms: macrocephaly/autism syndrome; macrocephaly-intellectual disability-autism syndrome
• Definition: An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DIS3HIWD: Autosomal dominant disease
  DISPGWOW: Macrocephaly-autism syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011537
  UMLS CUI: C1854416
  OMIM ID: 605309
  MedGen ID: 381416
  Orphanet ID: 210548

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
PTEN	TTEUQ4M	Definitive	Autosomal dominant	[1]
PTEN	TTXJ3W7	Definitive	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HEPACAM	OT1MJ51D	Supportive	Autosomal dominant	[3]
PTEN	OTOWDUNT	Definitive	Autosomal dominant	[1]

References

• [1] Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. Am J Med Genet A. 2007 Mar 15;143A(6):589-93. doi: 10.1002/ajmg.a.31619.
• [2] Genetic Suppression of mTOR Rescues Synaptic and Social Behavioral Abnormalities in a Mouse Model of Pten Haploinsufficiency.Autism Res. 2019 Oct;12(10):1463-1471. doi: 10.1002/aur.2186. Epub 2019 Aug 23.
• [3] Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17.