Details of Disease

General Information of Disease (ID: DISO5SAY)

• Disease Name: Syndromic X-linked intellectual disability 5
• Synonyms: mental retardation, X-linked 59; mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures; intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures; PGS; intellectual disability, X-linked, syndromic 5; mental retardation, X-linked, syndromic 21; intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures; X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures; intellectual disability, X-linked, syndromic, fried type; PETTIGREW syndrome; mental retardation, X-linked, syndromic 5; fried syndrome; mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures; Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures; intellectual disability X-linked syndromic 5; intellectual disability, X-linked, syndromic 21; MRXS5; mental retardation, X-linked, syndromic, fried type; intellectual disability, X-linked 59; mental retardation X-linked syndromic 5; X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome; mental retardation, X-linked syndromic 5; intellectual disability, X-linked syndromic 5; X-linked intellectual disability 59; syndromic X-linked intellectual disability 21; syndromic X-linked intellectual disability type 5; X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome; MRXS21; X-linked mental retardation 59; syndromic X-linked mental retardation fried type; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; MRX59; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked intellectual disability fried type; Pettigrew syndrome, X-linked recessive
• Definition: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.|Editor note: check relationship to friend syndrome
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DISOV08L: Central nervous system malformation
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISO5SAY: Syndromic X-linked intellectual disability 5
• Disease Identifiers:
  MONDO ID: MONDO_0010574
  MESH ID: C535773
  UMLS CUI: C0796254
  OMIM ID: 304340
  MedGen ID: 162924
  Orphanet ID: 1568
  SNOMED CT ID: 719139003

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
AP1S2	OTZHJFYI	Definitive	X-linked recessive	[1]

References

• [1] X-linked mental retardation and-or hydrocephalus. Clin Genet. 1972;3(4):258-63.