Ciliary Dyskinesia, Primary, 26 (CILD26)

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Disease Ontology 12 DOID:0110627 OMIM 56 615500 OMIM Phenotypic Series 56 PS244400 MeSH 43 D007619

ICD10 32 Q34.8 MedGen 41 C3809684 CN181205 SNOMED-CT via HPO 68 12295008 14821001 15296000 195788001 24614000 258211005 27317008 43876007 63480004 70076002 8619003 86204009 more UMLS 71 C3809684

OMIM : ⁵⁶ Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. 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 Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615500)

MalaCards based summary : Ciliary Dyskinesia, Primary, 26, also known as cild26, is related to chronic wasting disease and kuru. An important gene associated with Ciliary Dyskinesia, Primary, 26 is CFAP298 (Cilia And Flagella Associated Protein 298), and among its related pathways/superpathways is Copper homeostasis. Related phenotypes are situs inversus totalis and recurrent otitis media

Disease Ontology : ¹² A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.

UniProtKB/Swiss-Prot : ⁷³ Ciliary dyskinesia, primary, 26: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

Clinical features from OMIM:

615500

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 26

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 26.