Ciliary Dyskinesia, Primary, 40 (CILD40)

External Ids:

Disease Ontology 12 DOID:0111853 OMIM 56 618300 OMIM Phenotypic Series 56 PS244400 MeSH 43 D007619

MedGen 41 C4749028 CN258165 SNOMED-CT via HPO 68 14821001 15296000 24614000 258211005 263731006 272039006 27317008 425558002 43876007 48188009 49727002 70076002 8619003 more UMLS 71 C4749028

OMIM : ⁵⁶ 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 cild40. 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 cough and azoospermia

Disease Ontology : ¹² A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has material basis in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12.

UniProtKB/Swiss-Prot : ⁷³ 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.