Details of Disease

General Information of Disease (ID: DISZM91M)

• Disease Name: Intellectual disability, autosomal dominant 10
• Synonyms: autosomal dominant non-syndromic intellectual disability 10; mental retardation, autosomal dominant 10; autosomal dominant intellectual disability 10; intellectual disability, autosomal dominant type 10; CACNG2 autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2; MRD10; autosomal dominant mental retardation 10; mental retardation, autosomal dominant type 10; intellectual disability, autosomal dominant 10
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISZM91M: Intellectual disability, autosomal dominant 10
• Disease Identifiers:
  MONDO ID: MONDO_0013657
  UMLS CUI: C3280284
  OMIM ID: 614256
  MedGen ID: 481914

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNG2	DTRL7OG	Limited	Autosomal dominant	[1]
CACNG2	DTRL7OG	Limited	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNG2	OTETEMM0	Limited	Autosomal dominant	[1]

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] Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3.