FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: intellectual disability, X-linked, syndromic 13
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General Information
Name
intellectual disability, X-linked, syndromic 13
FlyBase ID
FBhh0000359
Disease Ontology Term
Parent Disease
OMIM
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13
Overview

One of several diseases associated with defects in the human gene 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 13
OMIM report

[INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13](https://omim.org/entry/300055)

Human gene(s) implicated

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

Symptoms and phenotype

Symptoms of mental retardation, X-linked, syndromic 13 (MRXS13) are variable: the degree of retardation ranges from mild to profound, and can be accompanied by defects in speech, progressive spasticity, or other movement disorders. [from MIM:300055; 2016.08.08]

(OMIM, 2013-)
Genetics

MRXS13 is caused by mutation in the X-linked methyl-CpG-binding protein-2 gene (MECP2). [from MIM:300055; 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 13
mental retardation, X-linked 16
mental retardation, X-linked 79
mental retardation, X-linked, syndromic 13
mental retardation, X-linked, with spasticity
MRXS13
PPM-X syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
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)