Details of Disease

General Information of Disease (ID: DISBD7Q7)

Disease Name Intellectual disability, autosomal dominant 6
Synonyms
mental retardation, autosomal dominant 6, with or without seizures; mental retardation, autosomal dominant 6; autosomal dominant non-syndromic intellectual disability 6; intellectual disability, autosomal dominant 6, with or without seizures; GRIN2B autosomal dominant non-syndromic intellectual disability; intellectual disability, autosomal dominant 6; autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B; MRD6; autosomal dominant intellectual disability 6; intellectual developmental disorder, autosomal dominant 6, with or without seizures; autosomal dominant mental retardation 6; mental retardation, autosomal dominant type 6; intellectual disability, autosomal dominant type 6
Definition Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.
Disease Hierarchy
DIS1I87P: Intellectual disability, autosomal dominant
DISBD7Q7: Intellectual disability, autosomal dominant 6
Disease Identifiers
MONDO ID
MONDO_0013509
UMLS CUI
C3151411
OMIM ID
613970
MedGen ID
462761

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GRIN2B TTN9D8E Strong Genetic Variation [1]
GRIN2B TTN9D8E Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRIN2B OT0GODXX Definitive Autosomal dominant [2]
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References

1 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.PLoS Genet. 2017 Jan 17;13(1):e1006536. doi: 10.1371/journal.pgen.1006536. eCollection 2017 Jan.
2 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.