Ciliary Dyskinesia, Primary, 41 (CILD41)

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Disease Ontology 12 DOID:0111858 OMIM® 57 618449 OMIM Phenotypic Series 57 PS244400

MeSH 44 D002925 MedGen 41 C5193103 CN258815 SNOMED-CT via HPO 68 12295008 15296000 195788001 258211005 8619003 more

UniProtKB/Swiss-Prot : ⁷³ Ciliary dyskinesia, primary, 41: 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. CILD41 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 41, is also known as cild41. An important gene associated with Ciliary Dyskinesia, Primary, 41 is GAS2L2 (Growth Arrest Specific 2 Like 2). Related phenotypes are recurrent otitis media and infertility

Disease Ontology : ¹² A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has material basis in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12.

OMIM® : ⁵⁷ Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis (Bustamante-Marin et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618449) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618449 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 41

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 41.