Details of Disease

General Information of Disease (ID: DIS4V6PK)

• Disease Name: Intellectual disability, autosomal recessive 42
• Synonyms: mental retardation, autosomal recessive 42; glycosylphosphatidylinositol biosynthesis defect 9; MRT42; intellectual disability, autosomal recessive 42; autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1; PGAP1 autosomal recessive non-syndromic intellectual disability; neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities; intellectual disability, autosomal recessive type 42; mental retardation, autosomal recessive type 42
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS4V6PK: Intellectual disability, autosomal recessive 42
• Disease Identifiers:
  MONDO ID: MONDO_0014348
  UMLS CUI: C4014343
  OMIM ID: 615802
  MedGen ID: 862780

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
PGAP1	OT1WQ55V	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] oto is a homeotic locus with a role in anteroposterior development that is partially redundant with Lim1. Development. 1999 Nov;126(22):5085-95. doi: 10.1242/dev.126.22.5085.