Details of Disease

General Information of Disease (ID: DISVEC36)

• Disease Name: Intellectual disability, autosomal recessive 7
• Synonyms: intellectual disability, autosomal recessive 22; mental retardation, autosomal recessive 22; mental retardation, autosomal recessive 7; MRT7; TUSC3 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 7; mental retardation, autosomal recessive type 7; intellectual disability, autosomal recessive type 7; autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISVEC36: Intellectual disability, autosomal recessive 7
• Disease Identifiers:
  MONDO ID: MONDO_0012615
  MESH ID: C567016
  UMLS CUI: C1970197
  OMIM ID: 611093
  MedGen ID: 370847

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
TUSC3	OTE1V2P2	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
TUSC3	DTF6R81	Definitive	Autosomal recessive	[1]

References

• [1] Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet. 2008 May;82(5):1150-7. doi: 10.1016/j.ajhg.2008.03.021. Epub 2008 May 1.
• [2] 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.