Details of Disease

General Information of Disease (ID: DISJ54F6)

• Disease Name: Syndromic X-linked intellectual disability Lubs type
• Synonyms: XLMR syndrome, Lubs type; Lubs X-linked mental retardation syndrome (formerly); intellectual disability, X-linked, Lubs type (formerly); Lubs X-linked intellectual disability syndrome (formerly); trisomy Xq28; mental retardation, X-linked, Lubs type (formerly); MECP2 Duplication syndrome; intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive; distal duplication Xq; telomeric duplication Xq; intellectual disability, X-linked, with recurrent respiratory infections; MRXSL; Xq28 (MECP2) duplication; mental retardation, X-linked, syndromic, Lubs type; intellectual disability, X-linked, syndromic, Lubs type; X-linked intellectual disability-hypotonia-recurrent infections syndrome; mental retardation, X-linked, with recurrent respiratory infections; Lubs X-linked mental retardation syndrome; Lubs X-linked intellectual disability syndrome; syndromic X-linked intellectual disability Lubs type; MECP2 duplication syndrome
• Definition: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DISCW4D6: Partial duplication of the long arm of chromosome X
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISJ54F6: Syndromic X-linked intellectual disability Lubs type
• Disease Identifiers:
  MONDO ID: MONDO_0010283
  MESH ID: C537723
  UMLS CUI: C1846058
  OMIM ID: 300260
  MedGen ID: 337496
  Orphanet ID: 1762
  SNOMED CT ID: 702816000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IRAK1	TTXAJWN	Limited	Genetic Variation	[1]
MECP2	TTTAU9R	Strong	Biomarker	[2]
MECP2	TTTAU9R	Definitive	X-linked	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDT1	OTVY53VG	Strong	Genetic Variation	[4]
EBPL	OT59J1GY	Strong	Genetic Variation	[5]
MECP2	OTREZK68	Definitive	X-linked	[3]

References

• [1] Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.Am J Med Genet A. 2018 Mar;176(3):551-559. doi: 10.1002/ajmg.a.38524. Epub 2018 Jan 17.
• [2] Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15.
• [3] Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol. 2003;7(1):5-12. doi: 10.1016/s1090-3798(02)00134-4.
• [4] Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar.
• [5] Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing.Brain Res. 2017 Nov 15;1675:71-77. doi: 10.1016/j.brainres.2017.08.028. Epub 2017 Sep 1.