Details of Disease | DrugMAP

General Information of Disease (ID: DISCSYIQ)

Disease Name	Intellectual disability, autosomal recessive 14
Synonyms	MRT14; mental retardation, autosomal recessive 14; intellectual disability, autosomal recessive type 14; intellectual disability, autosomal recessive 14; TECR autosomal recessive non-syndromic intellectual disability; autosomal recessive non-syndromic intellectual disability caused by mutation in TECR; mental retardation, autosomal recessive type 14
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISCSYIQ: Intellectual disability, autosomal recessive 14
Disease Identifiers	MONDO ID MONDO_0013528 UMLS CUI C3151462 OMIM ID 614020 MedGen ID 462812

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
TECR	OT2NT4MV	Limited	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	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.