Ciliary Dyskinesia, Primary, 35 (CILD35)

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Disease Ontology 12 DOID:0110620 OMIM 57 617092 PS244400

MeSH 44 D007619 MedGen 42 C4310721 CN238358

UniProtKB/Swiss-Prot : ⁷⁴ Ciliary dyskinesia, primary, 35: 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. CILD35 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 35, is also known as cild35. An important gene associated with Ciliary Dyskinesia, Primary, 35 is TTC25 (Tetratricopeptide Repeat Domain 25). Related phenotypes are situs inversus totalis and recurrent respiratory infections

Disease Ontology : ¹² A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has material basis in homozygous mutation in the TTC25 gene on chromosome 17q21.

OMIM : ⁵⁷ Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (617092)

Clinical features from OMIM:

617092

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