Ciliary Dyskinesia, Primary, 33 (CILD33)

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Disease Ontology 12 DOID:0110619 OMIM® 57 616726 OMIM Phenotypic Series 57 PS244400 MeSH 44 D007619

ICD10 32 Q34.8 MedGen 41 C4225230 CN234871 SNOMED-CT via HPO 68 12295008 128601007 258211005 263731006 272039006 44057004 46621007 49727002 699014000 86094006 86204009 more

OMIM® : ⁵⁷ Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (616726) (Updated 05-Mar-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 33, also known as cild33, is related to primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 33 is GAS8 (Growth Arrest Specific 8). Related phenotypes are recurrent otitis media and conductive hearing impairment

Disease Ontology : ¹² A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has material basis in homozygous mutation in the GAS8 gene on chromosome 16q24.

UniProtKB/Swiss-Prot : ⁷³ Ciliary dyskinesia, primary, 33: 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. CILD33 inheritance is autosomal recessive.

Clinical features from OMIM®:

616726 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 33

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 33.