Open Close
General Information
Name
polyglutamine diseases
FlyBase ID
FBhh0000218
Disease Ontology Term
Parent Disease
OMIM
Overview

A number of inherited disorders, most of which are neurodegenerative in nature, are caused by expansion of CAG repeats within the coding region of the causative gene, resulting in an expanded run of glutamine (Q) residues in the encoded protein. This report includes general information about this class of diseases. See the "Related diseases" section below for links to reports for specific diseases and for the "polyQ-only" model systems developed in Drosophila (FBhh0000001). Runs of short nucleotide repeats may also result in pathologies effected via the transcript(s) of a gene, rather than the protein products. Work in Drosophila addressing this phenomenon is described in a separate disease report; see RNA-repeat diseases (FBhh0000059).

[updated Mar. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: polyglutamine diseases
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
    Disease synonyms
    polyQ diseases
    READs
    repeat-expansion associated diseases
    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
          Selected mammalian 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 (87)