Details of Disease

General Information of Disease (ID: DISTSM1A)

• Disease Name: Intellectual disability, autosomal recessive 34
• Synonyms: mental retardation, autosomal recessive 34, with variant lissencephaly; MRT34; intellectual disability, autosomal recessive 34, with variant lissencephaly; mental retardation, autosomal recessive 34; intellectual disability, autosomal recessive type 34; intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly; CRADD autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 34; mental retardation, autosomal recessive type 34; autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISTSM1A: Intellectual disability, autosomal recessive 34
• Disease Identifiers:
  MONDO ID: MONDO_0013785
  UMLS CUI: C3281044
  OMIM ID: 614499
  MedGen ID: 482674

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRADD	OT02TZ4S	Strong	Autosomal recessive	[2]

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] Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.