Details of Disease

General Information of Disease (ID: DISG1YOH)

Disease Name X-linked syndromic intellectual disability
Synonyms
intellectual disability, X-linked syndromic; syndromic X-linked intellectual disability; syndromic intellectual disability, X-linked; syndromic X-linked mental retardation; X-linked syndromic intellectual disability; mental retardation, X-linked syndromic
Definition A syndromic intellectual disability with an X-linked mode of inheritance.
Disease Hierarchy
DISH7SDF: Syndromic intellectual disability
DISYJBY3: X-linked intellectual disability
DISG1YOH: X-linked syndromic intellectual disability

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USP9X OT9ASQSE Definitive X-linked [1]
ZC4H2 OT6Q5UDC Definitive X-linked [1]
RAB40AL OTZWO8A5 Refuted X-linked [1]
LAS1L OTG4I2A1 Limited X-linked [1]
STEEP1 OTNPKCX6 Limited X-linked [2]
RPL10 OTBHOZGC Moderate X-linked [1]
AP1S2 OTZHJFYI Definitive X-linked [1]
BRWD3 OT3BM9B0 Definitive X-linked [1]
CASK OT8EF7ZF Definitive X-linked [1]
DDX3X OTDO4TRX Definitive X-linked [1]
KDM5C OTZ6E0HY Definitive X-linked [1]
NONO OTN36Q6U Definitive X-linked [1]
PAK3 OT80M3BV Definitive X-linked [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 13 DOT(s)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KDM5C TT94UCF Definitive X-linked [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26.