Details of Disease

General Information of Disease (ID: DIS5FMH4)

Disease Name Chromosome Xq28 duplication syndrome
Synonyms chromosome Xq28 duplication syndrome
Disease Hierarchy
DISJ54F6: Syndromic X-linked intellectual disability Lubs type
DISPKU5I: Syndrome caused by partial chromosomal duplication
DIS5FMH4: Chromosome Xq28 duplication syndrome
Disease Identifiers
MONDO ID
MONDO_0010436
MESH ID
C567580
UMLS CUI
C2749007
OMIM ID
300815
MedGen ID
411727

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MECP2 TTTAU9R Strong Biomarker [1]
MECP2 TTTAU9R Definitive X-linked recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MECP2 OTREZK68 Definitive X-linked recessive [2]
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References

1 Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.
2 Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.