General Information of Disease (ID: DISVSHJD)

Disease Name Intellectual disability, X-linked 91
Synonyms
mental retardation, X-linked 91; MRX91; intellectual disability, X-linked 91; non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15; ZDHHC15 non-syndromic X-linked intellectual disability; intellectual disability, X-linked type 91; mental retardation, X-linked type 91; mental retardation, X-linked 91, X-linked dominant
Definition Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISVSHJD: Intellectual disability, X-linked 91
Disease Identifiers
MONDO ID
MONDO_0010363
MESH ID
C564482
UMLS CUI
C1845142
OMIM ID
300577
MedGen ID
375592

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
ZDHHC15 OTCT1D53 Limited Unknown [1]
DLG3 OTH591WK Strong Biomarker [2]
GDI1 OTYM3928 Strong Biomarker [3]
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References

1 Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability. Neurol Genet. 2021 Jul 29;7(4):e602. doi: 10.1212/NXG.0000000000000602. eCollection 2021 Aug.
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.