Ciliary Dyskinesia, Primary, 38 (CILD38)

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Disease Ontology 12 DOID:0111852 OMIM 56 618063 OMIM Phenotypic Series 56 PS244400 MeSH 43 D007619

MedGen 41 C4748052 CN252651 SNOMED-CT via HPO 68 12295008 14821001 15296000 21186006 24614000 258211005 263731006 272039006 27317008 40055000 43876007 44057004 49727002 70076002 8619003 more UMLS 71 C4748052

OMIM : ⁵⁶ Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618063)

MalaCards based summary : Ciliary Dyskinesia, Primary, 38, is also known as cild38. An important gene associated with Ciliary Dyskinesia, Primary, 38 is CFAP300 (Cilia And Flagella Associated Protein 300). Related phenotypes are conductive hearing impairment and chronic otitis media

Disease Ontology : ¹² A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has material basis in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1.

UniProtKB/Swiss-Prot : ⁷³ Ciliary dyskinesia, primary, 38: 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. CILD38 inheritance is autosomal recessive.

Clinical features from OMIM:

618063

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