Ciliary Dyskinesia, Primary, 33

Alternative Names

  • CILD33
  • Ciliary Dyskinesia, Primary, 33, 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

616726

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q24.3

Description

Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by {2:Olbrich et al., 2015}). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616726.1.1United Arab EmiratesFemaleNo Ciliary dyskinesia; Decreased lacrimatio...NC_000016.10:g.(?_90019633)_(90019768_?)delHeterozygous, HomozygousAutosomal, RecessiveKhan 2022 Proband. Disease att...
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