Details of Disease | DrugMAP

General Information of Disease (ID: DISY35HR)

Disease Name	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Synonyms	mental retardation, autosomal recessive 37; MRT37; intellectual disability, autosomal recessive 37; intellectual disability, autosomal recessive type 37; mental retardation, autosomal recessive type 37; mental retardation, autosomal recessive, 37
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISY35HR: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Disease Identifiers	MONDO ID MONDO_0014210 UMLS CUI C3809672 OMIM ID 615493 MedGen ID 816002 Orphanet ID 356996

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
ANK3	OTJ3IRBP	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	Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet. 2013 May 15;22(10):1960-70. doi: 10.1093/hmg/ddt043. Epub 2013 Feb 5.