Details of Disease | DrugMAP

General Information of Disease (ID: DISNX1E9)

Disease Name	Intellectual disability, autosomal recessive 3
Synonyms	CC2D1A autosomal recessive non-syndromic intellectual disability; autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A; intellectual disability, autosomal recessive type 3; intellectual disability, autosomal recessive 3; mental retardation, autosomal recessive type 3; MRT3; mental retardation, autosomal recessive 3
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISNX1E9: Intellectual disability, autosomal recessive 3
Disease Identifiers	MONDO ID MONDO_0012037 MESH ID C563929 UMLS CUI C1838023 OMIM ID 608443 MedGen ID 373870

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
CC2D1A	OTVPU04K	Definitive	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	The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet. 2006 Mar;43(3):203-10. doi: 10.1136/jmg.2005.035709. Epub 2005 Jul 20.