FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: intellectual disability, X-linked, syndromic, Lubs type
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General Information
Name
intellectual disability, X-linked, syndromic, Lubs type
FlyBase ID
FBhh0000360
Disease Ontology Term
Parent Disease
OMIM
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL
Overview

One of several diseases associated with the human gene MECP2; this particular disorder is caused by extra doses of MECP2. For descriptions of related experiments in flies, see the human disease model report for neurodevelopmental disorders, MECP2-related (FBhh0000362). OMIM includes this disease in the phenotypic series mental retardation, X-linked syndromic (FBhh0000125).

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: intellectual disability, X-linked, syndromic
Symptoms and phenotype

Intellectual disability is characterized by impairments in intellectual functioning and adaptive behavior; symptoms must be present before a child becomes 18 years old (http://medical-dictionary.thefreedictionary.com/mental+retardation; 2016.01.19).

(FlyBase Curators, 2013-)

Intellectual disability can be subdivided into syndromic forms, characterized by cognitive impairment accompanied by dysmorphic features, malformations or neurological abnormalities, and nonsyndromic forms, characterized by cognitive impairment without additional features (Basel-Vanagaite, 2008; DOI: 10.1002/9780470015902.a0021454).

(FlyBase Curators, 2013-)
Specific Disease Summary: intellectual disability, X-linked, syndromic, Lubs type
OMIM report

[INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL](https://omim.org/entry/300260)

Human gene(s) implicated

[METHYL-CpG-BINDING PROTEIN 2; MECP2](https://omim.org/entry/300005)

Symptoms and phenotype

Lubs X-linked mental retardation syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. [from MIM:300260; 2016.08.08]

(OMIM, 2013-)
Genetics

MRXSL is caused by duplication or triplication of the X-linked gene encoding methyl-CpG-binding protein-2 (MECP2). Only males are severely affected; some carrier females have been described as exhibiting mild endocrine abnormalities or

(OMIM, 2013-)

psychiatric manifestations. [from MIM:300260; 2016.08.08]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

MECP2 is dispensible in stem cells, but is essential for embryonic development. [from Gene Cards, MECP2; 2016.08.08]

(FlyBase Curators, 2013-)

MECP2, which binds methylated CpGs, is a chromatin-associated protein that can both activate and repress transcription; it is required for normal maturation of neurons. [from MIM:300005; 2016.08.08]

(OMIM, 2013-)
External links
Disease synonyms
intellectual disability, X-linked syndromic, Lubs type
Lubs X-linked mental retardation syndrome
MECP2 duplication syndrome
mental retardation, X-linked syndromic, Lubs type
MRXSL
syndromic X-linked intellectual disability Lubs type
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)