Details of Disease | DrugMAP

General Information of Disease (ID: DISSN8QX)

Disease Name	Intellectual disability, autosomal recessive 2
Synonyms	MRT2; mental retardation, autosomal recessive 2A; mental retardation, autosomal recessive 2; intellectual disability, autosomal recessive 2A; intellectual disability, autosomal recessive 2; CRBN autosomal recessive non-syndromic intellectual disability; mental retardation, autosomal recessive type 2; intellectual disability, autosomal recessive type 2; autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISSN8QX: Intellectual disability, autosomal recessive 2
Disease Identifiers	MONDO ID MONDO_0011828 MESH ID C564404 UMLS CUI C1843942 OMIM ID 607417 MedGen ID 334541

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	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRBN	OTXH9MDC	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology. 2004 Nov 23;63(10):1927-31. doi: 10.1212/01.wnl.0000146196.01316.a2.