Ciliary Dyskinesia, Primary, 40 (CILD40)

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OMIM 58 618300 MeSH 45 D007619

MedGen 43 CN258165 SNOMED-CT via HPO 70 14821001 15296000 24614000 27317008 425558002 43876007 48188009 8619003 more

OMIM : ⁵⁸ CILD40 is an autosomal recessive primary ciliary dyskinesia with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018). For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). (618300)

MalaCards based summary : Ciliary Dyskinesia, Primary, 40, is also known as ciliary dyskinesia, primary, 40, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 40 is DNAH9 (Dynein Axonemal Heavy Chain 9). Affiliated tissues include lung and heart, and related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : ⁷⁶ Ciliary dyskinesia, primary, 40: A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive.

Clinical features from OMIM:

618300

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 40

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 40.