FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: ciliary dyskinesia, primary
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General Information
Name
ciliary dyskinesia, primary
FlyBase ID
FBhh0000435
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as ciliary dyskinesia, primary (CILD). Primary ciliary dyskinesia is a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of CILD subtypes as defined by OMIM (which number over 40 to date) may be found by following the link in the "Related Diseases" section, "OMIM phenotypic series" subsection, below. A subset of these are listed in the table of related diseases, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Mar. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: ciliary dyskinesia, primary
OMIM report
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]

(FlyBase Curators, 2013-)
Genetics

Primary ciliary dyskinesia usually follows autosomal recessive genetic inheritance. [from Genetics Home Reference, primary ciliary dyskinesia; 2016.11.21]

(FlyBase Curators, 2013-)

Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder.

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

Primary ciliary dyskinesia results from loss of function of different parts of the primary ciliary apparatus, most often dynein arms.

(OMIM, 2013-)
External links
Disease synonyms
CILD
ciliary motility disorder
immotile cilia syndrome
PCD
primary ciliary dyskinesia
Search term: ciliopathy
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
        Primary Ciliary Dyskinesia
        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 (3)