Details of Disease | DrugMAP

General Information of Disease (ID: DIS0WEIX)

Disease Name	Intellectual disability, autosomal recessive 44
Synonyms	mental retardation, autosomal recessive 44; MRT44; METTL23 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive type 44; mental retardation, autosomal recessive type 44; intellectual disability, autosomal recessive 44; autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DIS0WEIX: Intellectual disability, autosomal recessive 44
Disease Identifiers	MONDO ID MONDO_0014409 UMLS CUI C4014745 OMIM ID 615942 MedGen ID 863182

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]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
METTL23	OTO7O557	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	METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 1;23(13):3456-66. doi: 10.1093/hmg/ddu054. Epub 2014 Feb 5.