Details of Disease | DrugMAP

General Information of Disease (ID: DISCHMH1)

Disease Name	Intellectual disability, autosomal recessive 5
Synonyms	mental retardation, autosomal recessive 5; MRT5; intellectual disability, autosomal recessive type 5; autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2; intellectual disability, autosomal recessive 5; mental retardation, autosomal recessive type 5; NSUN2 autosomal recessive non-syndromic intellectual disability
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISCHMH1: Intellectual disability, autosomal recessive 5
Disease Identifiers	MONDO ID MONDO_0012613 MESH ID C567018 UMLS CUI C1970199 OMIM ID 611091 MedGen ID 370849

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NSUN2	OTZCNM33	Strong	Autosomal recessive	[2]
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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	Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet. 2012 Jun;49(6):380-5. doi: 10.1136/jmedgenet-2011-100686. Epub 2012 May 10.