Details of Disease | DrugMAP

General Information of Disease (ID: DISTOVDL)

Disease Name	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Synonyms	MRT39; mental retardation, autosomal recessive 39; intellectual disability, autosomal recessive 39; intellectual disability, autosomal recessive type 39; mental retardation, autosomal recessive type 39
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISTOVDL: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0014238 UMLS CUI C3809853 OMIM ID 615541 MedGen ID 816183 Orphanet ID 391307

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
TTI2	OTU7TQCO	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	Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2007 Mar;121(1):43-8. doi: 10.1007/s00439-006-0292-0. Epub 2006 Nov 21.