Details of Disease

General Information of Disease (ID: DISN00RJ)

Disease Name Syndromic X-linked intellectual disability Siderius type
Synonyms
X-linked mental retardation Hamel type; X-linked intellectual disability, Siderius type; intellectual disability X-linked Siderius type; mental retardation X-linked Siderius type; mental retardation, X-linked, syndromic, Siderius type; Siderius Hamel syndrome; intellectual deficit X-linked Siderius type; intellectual disability, X-linked, syndromic, Siderius type; X-linked intellectual disability Hamel type; mental retardation syndrome, X-linked, Siderius type; intellectual disability syndrome, X-linked, Siderius type; intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive; Siderius X-linked intellectual disability syndrome; MRXSSD; Siderius-Hamel syndrome; Siderius X-linked mental retardation syndrome; syndromic X-linked intellectual disability Siderius type
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISG1YOH: X-linked syndromic intellectual disability
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISN00RJ: Syndromic X-linked intellectual disability Siderius type
Disease Identifiers
MONDO ID
MONDO_0010286
MESH ID
C537333
UMLS CUI
C1846055
OMIM ID
300263
MedGen ID
337375
Orphanet ID
85287

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PHF8 TT81PFE Definitive X-linked [1]
PHF8 TT81PFE Definitive Biomarker [2]
WNK3 TTI7FDX Definitive Genetic Variation [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAM120C OT2DH1SN Definitive Genetic Variation [3]
PHF8 OTVECV4A Definitive X-linked [1]
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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 Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway.Nat Commun. 2018 Jan 9;9(1):114. doi: 10.1038/s41467-017-02531-y.
3 Autism-associated familial microdeletion of Xp11.22.Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.