Details of Disease

General Information of Disease (ID: DISW6ZUD)

• Disease Name: Intellectual disability, autosomal dominant 41
• Synonyms: autosomal dominant non-syndromic intellectual disability 41; autosomal dominant intellectual disability 41; intellectual disability, autosomal dominant 41; intellectual disability, autosomal dominant type 41; autosomal dominant mental retardation 41; TBL1XR1 autosomal dominant non-syndromic intellectual disability; mental retardation, autosomal dominant 41; MRD41; mental retardation, autosomal dominant type 41; autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.
• Disease Hierarchy:
  DISD6L06: Autosomal dominant non-syndromic intellectual disability
  DISW6ZUD: Intellectual disability, autosomal dominant 41
• Disease Identifiers:
  MONDO ID: MONDO_0014842
  UMLS CUI: C4310784
  OMIM ID: 616944
  MedGen ID: 934751

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TBL1XR1	TTYXT16	Strong	Autosomal dominant	[1]
TBL1XR1	TTYXT16	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBL1XR1	OTM3B3OA	Strong	Autosomal dominant	[1]

References

• [1] Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.
• [2] Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2.