Details of Disease

General Information of Disease (ID: DISVZWE0)

• Disease Name: Intellectual disability, autosomal recessive 6
• Synonyms: MRT6; mental retardation, autosomal recessive 6; autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2; GRIK2 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 6; intellectual developmental disorder, autosomal recessive 6; mental retardation, autosomal recessive type 6; intellectual disability, autosomal recessive type 6
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISVZWE0: Intellectual disability, autosomal recessive 6
• Disease Identifiers:
  MONDO ID: MONDO_0012614
  MESH ID: C567017
  UMLS CUI: C1970198
  OMIM ID: 611092
  MedGen ID: 370848

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[1]
GRIK2	TT0K5RG	Strong	Biomarker	[2]
GRIK2	TT0K5RG	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIK2	OTQ41U3D	Definitive	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] A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007 Oct;81(4):792-8. doi: 10.1086/521275. Epub 2007 Aug 31.