Ciliary Dyskinesia, Primary, 7

Alternative Names

  • CILD7
  • Ciliary Dyskinesia, Primary, 7, 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

611884

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7p15.3

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

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
611884.1United Arab Emirates Ciliary dyskinesia; Situs inversus total...NM_001277115.2:c.8230C>T, NM_001277115.1:c.11839+1G>ACompound heterozygousAutosomal, RecessiveAlsamri et al. 2021
611884.2United Arab Emirates Ciliary dyskinesia; Chronic sinusitisNM_001277115.1:c.13120G>A, NM_001277115.2:c.4945-12T>CHeterozygousAutosomal, RecessiveAlsamri et al. 2021
611884.3United Arab Emirates Recurrent respiratory infections; Abnorm...NM_001277115.1:c.9305G>AHeterozygousAutosomal, RecessiveAlsamri et al. 2021
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