Details of Disease

General Information of Disease (ID: DISRMLYX)

Disease Name Intellectual disability, X-linked 58
Synonyms
MRX58; mental retardation, X-linked 58; intellectual disability, X-linked type 58; intellectual developmental disorder, X-linked 58, X-linked recessive; mental retardation, X-linked type 58; intellectual disability, X-linked 58; non-syndromic X-linked intellectual disability caused by mutation in TSPAN7; TSPAN7 non-syndromic X-linked intellectual disability
Definition Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISRMLYX: Intellectual disability, X-linked 58
Disease Identifiers
MONDO ID
MONDO_0010266
MESH ID
C564566
UMLS CUI
C1846174
OMIM ID
300210
MedGen ID
337526

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
TSPAN7 TTMT6VE Limited Biomarker [1]
TSPAN7 TTMT6VE Definitive X-linked [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DLG3 OTH591WK Strong Biomarker [3]
GDI1 OTYM3928 Strong Biomarker [4]
TSPAN7 OTE4DJ79 Definitive X-linked [2]
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References

1 The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking.Neuron. 2012 Mar 22;73(6):1143-58. doi: 10.1016/j.neuron.2012.01.021. Epub 2012 Mar 21.
2 Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region. Am J Med Genet. 1999 Sep 10;86(2):102-6. doi: 10.1002/(sici)1096-8628(19990910)86:2<102::aid-ajmg2>3.0.co;2-c.
3 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.
4 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.