Details of Disease

General Information of Disease (ID: DISHX5R0)

• Disease Name: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
• Synonyms: IDDGIP; intellectual developmental disorder with gastrointestinal difficulties and high pain threshold; Jansen de Vries syndrome
• Definition: IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS372XH: Neurodevelopmental disorder
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISHX5R0: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
• Disease Identifiers:
  MONDO ID: MONDO_0044318
  UMLS CUI: C4479517
  OMIM ID: 617450
  MedGen ID: 1385744

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
PPM1D	TTENJAB	Strong	Autosomal dominant	[1]
PPM1D	TTENJAB	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PPM1D	OT8NLZ9D	Strong	Autosomal dominant	[1]

References

• [1] De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23.
• [2] Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4.