Details of Disease

General Information of Disease (ID: DISI5QUE)

• Disease Name: Hogue-Janssens syndrome 1
• Synonyms: intellectual disability, autosomal dominant 35; mental retardation, autosomal dominant 35; autosomal dominant non-syndromic intellectual disability 35; MRD35; autosomal dominant mental retardation 35; intellectual disability, autosomal dominant type 35; intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome; autosomal dominant intellectual disability 35; mental retardation, autosomal dominant type 35
• Definition: An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISW4D10: Houge-Janssens syndrome
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISI5QUE: Hogue-Janssens syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0014602
  UMLS CUI: C5779996
  OMIM ID: 616355
  MedGen ID: 1830493
  Orphanet ID: 457279

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
PPP2R5D	OT43TTX0	Strong	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.