FB2026_03 , released September 17, 2026
Human Disease Model Report: intellectual disability, autosomal dominant 53
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General Information
Name
intellectual disability, autosomal dominant 53
FlyBase ID
FBhh0000868
Disease Ontology Term
Parent Disease
OMIM
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53; MRD53
Overview

Intellectual disability, autosomal dominant 53 is one of several forms of intellectual disability associated with defects in human CAMK2 (or CAMKII) genes; the CAMK2A gene is implicated in this specific form. See the human disease model report for 'intellectual disability, autosomal dominant, CAMK2-related' (FBhh0000870) for information on experimental results using Drosophila models of this and related diseases.

[updated Aug. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: intellectual disability, autosomal dominant
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, autosomal dominant 53
OMIM report

[INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53; MRD53](https://omim.org/entry/617798)

Human gene(s) implicated

[CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A](https://omim.org/entry/114078)

Symptoms and phenotype

Patients exhibit delayed psychomotor development and mild to severe intellectual disability; additional common features include hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features (Kury et al., 2017; pubmed:29100089). [from MIM:617798; 2018.08.14]

(OMIM, 2013-)
Genetics

Autosomal dominant mental retardation-53 (MRD53) is caused by heterozygous mutation in the CAMK2A gene. [from MIM:617798; 2018.08.14]

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

The CAMK2A gene encodes a subunit of calcium/calmodulin-dependent protein kinase II (CaM kinase II, CAMK2), a multifunctional serine/threonine kinase that has critical roles in synaptic plasticity, learning, and memory, including long-term potentiation. CAMK2 is a ubiquitous serine/threonine protein kinase that is abundant in the brain as a major constituent of the postsynaptic density. [from MIM:114078; 2018.08.14]

(OMIM, 2013-)
External links
Disease synonyms
mental retardation, autosomal dominant 53
MRD53
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    CAMK2A; calcium/calmodulin dependent protein kinase II alpha
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)
    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
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (3)