Details of Disease | DrugMAP

General Information of Disease (ID: DISFBZMR)

Disease Name	Syndromic X-linked intellectual disability 14
Synonyms	MRXS14; UPF3B X-linked syndromic intellectual disability; mental retardation, X-linked, syndromic 14; X-linked syndromic intellectual disability caused by mutation in UPF3B; syndromic X-linked intellectual disability 14; intellectual disability, X-linked, syndromic 14; mental retardation, X-linked, syndromic type 14; syndromic X-linked intellectual disability type 14; intellectual developmental disorder, X-linked syndromic 14, X-linked recessive; intellectual disability, X-linked, syndromic type 14
Definition	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISFBZMR: Syndromic X-linked intellectual disability 14
Disease Identifiers	MONDO ID MONDO_0010398 MESH ID C567063 UMLS CUI C1970822 OMIM ID 300676 MedGen ID 372646

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UPF3B	OTSI7RMZ	Definitive	X-linked recessive	[1]
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References

1	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19.