Details of Disease

General Information of Disease (ID: DIS0HQDG)

• Disease Name: Intellectual disability, autosomal recessive 18
• Synonyms: autosomal recessive nonsyndromic mental retardation-18; mental retardation, autosomal recessive 18; MED23; MRT18; autosomal recessive nonsyndromic intellectual disability-18; mental retardation, autosomal recessive type 18; intellectual disability, autosomal recessive 18; intellectual disability, autosomal recessive type 18; MED23 autosomal recessive non-syndromic intellectual disability; intellectual developmental disorder, autosomal recessive 18, with or without epilepsy; autosomal recessive non-syndromic intellectual disability caused by mutation in MED23
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS0HQDG: Intellectual disability, autosomal recessive 18
• Disease Identifiers:
  MONDO ID: MONDO_0013651
  UMLS CUI: C3280265
  OMIM ID: 614249
  MedGen ID: 481895

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED23	OTKZQT0R	Strong	Autosomal recessive	[2]

References

• [1] Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.J Neurosci. 2018 Mar 14;38(11):2780-2795. doi: 10.1523/JNEUROSCI.0599-17.2018. Epub 2018 Feb 19.
• [2] MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science. 2011 Aug 26;333(6046):1161-3. doi: 10.1126/science.1206638.