Details of Disease | DrugMAP

General Information of Disease (ID: DISE6E8H)

Disease Name	Syndromic X-linked intellectual disability 94
Synonyms	intellectual disability, X-linked, syndromic 29; intellectual disability, X-linked, syndromic, Wu type; mental retardation, X-linked, syndromic, Wu type; mental retardation, X-linked, syndromic 29; MRXSW; MRX94; mental retardation, X-linked 94; syndromic X-linked intellectual disability type 94; intellectual disability, X-linked 94; MRXS29; syndromic X-linked intellectual disability due to GRIA3 anomalies; syndromic X-linked intellectual disability Wu type; intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive; syndromic X-linked mental retardation 29; syndromic X-linked intellectual disability 29; syndromic X-linked mental retardation Wu type; syndromic X-linked intellectual disability 94
Definition	A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISE6E8H: Syndromic X-linked intellectual disability 94
Disease Identifiers	MONDO ID MONDO_0010402 MESH ID C567479 UMLS CUI C2678051 OMIM ID 300699 MedGen ID 437111

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
GRIA3	TT82EZV	Strong	Genetic Variation	[1]
GRIA3	TT82EZV	Definitive	X-linked recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIA3	OT34CNBR	Definitive	X-linked recessive	[1]
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References

1	Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18163-8. doi: 10.1073/pnas.0708699104. Epub 2007 Nov 7.