" /> Ciliary dyskinesia, primary, 25 - CISMeF





Preferred Label : Ciliary dyskinesia, primary, 25;

Symbol : CILD25;

CISMeF acronym : CILD25;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 25, with or without situs inversus;

Description : Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dyslexia susceptibility 1 candidate 1 gene (DYX1C1, 608706.0001);

Laboratory abnormalities : Cilia show inner and outer dynein arm defects; Immotile cilia;

Prefixed ID : #615482;

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29/07/2025


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