Details of Disease

General Information of Disease (ID: DISL2DD5)

Disease Name Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISL2DD5: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
Disease Identifiers
MONDO ID
MONDO_0859080
UMLS CUI
C5561930
OMIM ID
301066
MedGen ID
1794140

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
TFE3 OTM99ZWH Strong X-linked [1]
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References

1 Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3. Cell Stem Cell. 2019 Feb 7;24(2):257-270.e8. doi: 10.1016/j.stem.2018.11.021. Epub 2018 Dec 27.