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General Information
Name
ciliary dyskinesia, primary, 18
FlyBase ID
FBhh0000437
Disease Ontology Term
Parent Disease
Overview

This report describes ciliary dyskinesia, primary, 18 (CILD18), which is a subtype of primary ciliary dyskinesia. The human gene implicated in this disease is dynein axonemal assembly factor 5 (DNAAF5), also known as HEATR2 (HEAT repeat containing 2). CILD18 is inherited as an autosomal recessive. There is a single orthologous gene in Drosophila, Dmel\HEATR2, for which a classical amorphic allele, RNAi-targeting constructs, and an allele caused by insertional mutagenesis of a reporter gene have been generated.

The human DNAAF5 gene has not been introduced into flies.

An amorphic allele of Dmel\HEATR2 is lethal when homozygous. Animals with reduced function of HEATR2, effected by targeted RNAi, exhibit auditory perception defects, an uncoordinated phenotype, and immotile sperm; cilia of chordotonal organs are present, but their axonemes lack both outer and inner dynein arms.

Drosophila orthologs of several other genes required for assembly of dynein arms and implicated in ciliary dyskinesia in human have been found to affect auditory perception in flies (see FBhh0000436 and FBhh0001028).

[updated Dec. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: ciliary dyskinesia, primary
Symptoms and phenotype

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, recurrent ear infections (especially in children) and infertility (especially in males). About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus). [from Genetics Home Reference, primary ciliary dyskinesia; 2016.11.21]

Specific Disease Summary: ciliary dyskinesia, primary, 18
OMIM report

[CILIARY DYSKINESIA, PRIMARY, 18; CILD18](https://omim.org/entry/614874)

Human gene(s) implicated

[DYNEIN AXONEMAL ASSEMBLY FACTOR 5; DNAAF5](https://omim.org/entry/614864)

Symptoms and phenotype

See general description of primary ciliary dyskinesia, above.

Genetics

Primary ciliary dyskinesia-18 (CILD18) is caused by homozygous mutation in the HEATR2 gene. [from OMIM:614874; 2016.11.21]

Cellular phenotype and pathology
Molecular information

HEATR is required for the proper formation of outer axonemal dynein arms in cilia and flagella (Horani et al., 2012; pubmed:23040496). [from OMIM:614864; 2016.11.21]

External links
Disease synonyms
CILD18
primary ciliary dyskinesia 18
primary ciliary dyskinesia 18 with or without situs inversus
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      In progress.Contributions welcome.
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
        Comments on ortholog(s)

        Ortholog of human DNAAF5 gene (1 Drosophila to 1 human). Dmel\HEATR2 shares 31% identity and 51% similarity with human DNAAF5; each contains multiple HEAT repeats.

        Orthologs and Alignments from DRSC
        DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
        Synthetic Gene(s) Used (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
        Models Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        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
        amorphic allele - molecular evidence
        P-element activity
        References (5)