Details of Disease

General Information of Disease (ID: DISKDVXD)

Disease Name Intellectual disability, X-linked 49
Synonyms
mental retardation, X-linked 49; CLCN4-related X-linked intellectual disability syndrome; intellectual disability, X-linked 15; intellectual disability, X-linked 49; MRX49; mental retardation, X-linked 15; Raynaud-Claes syndrome, X-linked dominant
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISKDVXD: Intellectual disability, X-linked 49
Disease Identifiers
MONDO ID
MONDO_0010250
UMLS CUI
C0796221
OMIM ID
300114
MedGen ID
923000
SNOMED CT ID
1172691004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN4 OT4A2UWF Strong X-linked [1]
DLG3 OTH591WK Strong Biomarker [2]
GDI1 OTYM3928 Strong Biomarker [3]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 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.
3 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.