Details of Disease

General Information of Disease (ID: DIS09LQR)

• Disease Name: Intellectual disability, autosomal recessive 27
• Synonyms: mental retardation, autosomal recessive 27; MRT27; intellectual disability, autosomal recessive 27; mental retardation, autosomal recessive type 27; intellectual disability, autosomal recessive type 27; intellectual developmental disorder, autosomal recessive 27; LINS1 autosomal recessive non-syndromic intellectual disability; autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS09LQR: Intellectual disability, autosomal recessive 27
• Disease Identifiers:
  MONDO ID: MONDO_0013702
  UMLS CUI: C3280538
  OMIM ID: 614340
  MedGen ID: 482168

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
LINS1	OT1USO08	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] Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.