Details of Disease

General Information of Disease (ID: DISOPBMY)

• Disease Name: Intellectual disability, autosomal recessive 43
• Synonyms: MRT43; mental retardation, autosomal recessive 43; intellectual disability, autosomal recessive 43; WASHC4 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive type 43; intellectual developmental disorder, autosomal recessive 43; autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4; mental retardation, autosomal recessive type 43
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISOPBMY: Intellectual disability, autosomal recessive 43
• Disease Identifiers:
  MONDO ID: MONDO_0014354
  UMLS CUI: C4014386
  OMIM ID: 615817
  MedGen ID: 862823

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WASHC4	OTYIHCXJ	Limited	Autosomal recessive	[1]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[2]

References

• [1] 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.
• [2] 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.