Ciliary Dyskinesia, Primary, 3

Alternative Names

  • CILD3
  • Ciliary Dyskinesia, Primary, 3, with or without Situs Inversus
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the respiratory system

OMIM Number

608644

Gene Map Locus

5p15.2

Description

Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
608644.1.1LebanonFemaleYesYes Recurrent respiratory infections; Bronch...NM_001369.2:c.5563dupHomozygousAutosomal, RecessiveOlbrich et al. 2002; Omran et al. 2000
608644.1.2LebanonMaleYesYes Recurrent respiratory infections; Bronch...NM_001369.2:c.5563dupHomozygousAutosomal, RecessiveOlbrich et al. 2002; Omran et al. 2000 Sibling of 608644.1....
608644.1.3LebanonMaleYesYes Recurrent respiratory infections; Bronch...NM_001369.2:c.5563dupHomozygousAutosomal, RecessiveOlbrich et al. 2002; Omran et al. 2000 Sibling of 608644.1....
608644.1.4LebanonFemaleYesYes Recurrent respiratory infections; Situs ...NM_001369.2:c.5563dupHomozygousAutosomal, RecessiveOlbrich et al. 2002; Omran et al. 2000 Sibling of 608644.1....
608644.1.5LebanonFemaleNM_001369.2:c.5563dupHeterozygousAutosomal, RecessiveOlbrich et al. 2002; Omran et al. 2000 Mother of 608644.1.1
608644.1.6LebanonMaleNM_001369.2:c.5563dupHeterozygousAutosomal, RecessiveOlbrich et al. 2002; Omran et al. 2000 Father of 608644.1.1
608644.2.1United Arab EmiratesFemaleYes Recurrent respiratory infections; Dynein...NM_001369.2:c.5503C>THomozygousAutosomal, RecessiveAlsamri et al. 2021
608644.2.2United Arab EmiratesFemaleYes Recurrent respiratory infections; Dynein...NM_001369.2:c.5503C>THomozygousAutosomal, RecessiveAlsamri et al. 2021 Sibling of 608644.2....
608644.3.1United Arab EmiratesFemaleYes Bronchiectasis; Chronic sinusitis; Cilia...NM_001369.2:c.4807C>AHomozygousAutosomal, RecessiveAlsamri et al. 2021
608644.3.2United Arab EmiratesFemaleYes Bronchiectasis; Chronic sinusitis; Cilia...NM_001369.2:c.4807C>AHomozygousAutosomal, RecessiveAlsamri et al. 2021 Sibling of 608644.3....
608644.4Saudi ArabiaMale Non-obstructive azoospermiaNM_001369.2:c.12704A>GHomozygousAutosomal, RecessiveAlhathal et al. 2020 No systemic manifest...
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