Ciliary Dyskinesia, Primary, 43 (CILD43)

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Disease Ontology 12 DOID:0111856 OMIM 56 618699 OMIM Phenotypic Series 56 PS244400

MeSH 43 D002925 MedGen 41 CN263052 UMLS 71 CN263052

OMIM : ⁵⁶ Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400). (618699)

MalaCards based summary : Ciliary Dyskinesia, Primary, 43, is also known as cild43. An important gene associated with Ciliary Dyskinesia, Primary, 43 is FOXJ1 (Forkhead Box J1). Affiliated tissues include lung.

Disease Ontology : ¹² A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has material basis in heterozygous mutation in FOXJ1 on chromosome 17q25.1.

UniProtKB/Swiss-Prot : ⁷³ Ciliary dyskinesia, primary, 43: 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. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant.

Clinical features from OMIM:

618699

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 43

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 43.