Details of Disease | DrugMAP

General Information of Disease (ID: DISRUKGY)

Disease Name	Intellectual disability, autosomal recessive 12
Synonyms	mental retardation, autosomal recessive 12; MRT12; mental retardation, autosomal recessive type 12; intellectual disability, autosomal recessive type 12; intellectual disability, autosomal recessive 12; intellectual developmental disorder, autosomal recessive 12
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISRUKGY: Intellectual disability, autosomal recessive 12
Disease Identifiers	MONDO ID MONDO_0012612 MESH ID C567019 UMLS CUI C1970200 OMIM ID 611090 MedGen ID 370850

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
ST3GAL3	OTOORKUE	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	ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 2011 Sep 9;89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008.