Details of Disease

General Information of Disease (ID: DISWT4BP)

Disease Name Intellectual disability, X-linked 9
Synonyms
intellectual disability, X-linked 44; mental retardation, X-linked 9; MRX9; mental retardation, X-linked 44; intellectual disability, X-linked 9; intellectual developmental disorder, X-linked 9, X-linked recessive; intellectual disability, X-linked type 9; FTSJ1 non-syndromic X-linked intellectual disability; mental retardation, X-linked type 9; non-syndromic X-linked intellectual disability caused by mutation in FTSJ1
Definition Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISWT4BP: Intellectual disability, X-linked 9
Disease Identifiers
MONDO ID
MONDO_0010660
MESH ID
C563137
UMLS CUI
C0796215
OMIM ID
309549
MedGen ID
167112

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DLG3 OTH591WK Strong Biomarker [1]
GDI1 OTYM3928 Strong Biomarker [2]
TBC1D25 OT11OABF Strong Genetic Variation [3]
FTSJ1 OTNE7W96 Definitive X-linked [4]
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References

1 Altered thalamocortical development in the SAP102 knockout model of intellectual disability.Hum Mol Genet. 2016 Sep 15;25(18):4052-4061. doi: 10.1093/hmg/ddw244. Epub 2016 Jul 27.
2 Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1.
3 Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome.Genomics. 1993 Nov;18(2):290-4. doi: 10.1006/geno.1993.1468.
4 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. Am J Med Genet. 1999 Jul 30;85(3):290-304.