Details of Disease

General Information of Disease (ID: DISLIJL7)

• Disease Name: Syndromic X-linked intellectual disability Claes-Jensen type
• Synonyms: intellectual disability, X-linked, syndromic, JARID1C-related; mental retardation, X-linked, syndromic, JARID1C-related; intellectual disability, X-linked, syndromic, Claes-Jensen type; syndromic X-linked mental retardation JARID1C-related; MRXSCJ; MRXSJ; syndromic X-linked intellectual disability JARID1C-related; syndromic X-linked intellectual disability Claes-Jensen type; intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive; syndromic X-linked intellectual disability due to JARID1C mutation; mental retardation, X-linked, syndromic, Claes-Jensen type
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISLIJL7: Syndromic X-linked intellectual disability Claes-Jensen type
• Disease Identifiers:
  MONDO ID: MONDO_0010355
  MESH ID: C564494
  UMLS CUI: C1845243
  OMIM ID: 300534
  MedGen ID: 335139
  Orphanet ID: 85279

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
KDM5C	TT94UCF	Definitive	X-linked	[1]
KDM5C	TT94UCF	Definitive	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KDM5C	OTZ6E0HY	Definitive	X-linked	[1]

References

• [1] Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J Med Genet. 2008 Dec;45(12):787-93. doi: 10.1136/jmg.2008.058990. Epub 2008 Aug 12.
• [2] Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.Front Mol Neurosci. 2018 Apr 4;11:104. doi: 10.3389/fnmol.2018.00104. eCollection 2018.