Ciliary Dyskinesia, Primary, 13 malady
Categories: Genetic diseases, Rare diseases, Respiratory diseases
Aliases & Descriptions for Ciliary Dyskinesia, Primary, 13:
ciliary dyskinesia, primary, 13:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases
UniProtKB/Swiss-Prot:67 Ciliary dyskinesia, primary, 13: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.
MalaCards based summary: Ciliary Dyskinesia, Primary, 13, also known as primary ciliary dyskinesia 13 with or without situs inversus, is related to ciliary dyskinesia, primary, 1, with or without situs inversus, and has symptoms including sinusitis, recurrent otitis media and infertility. An important gene associated with Ciliary Dyskinesia, Primary, 13 is DNAAF1 (Dynein (Axonemal) Assembly Factor 1).
Description from OMIM:49 613193
HPO human phenotypes related to Ciliary Dyskinesia, Primary, 13:(show all 9)
UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 13:67
Clinvar genetic disease variations for Ciliary Dyskinesia, Primary, 13:5
Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 13.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet