Ciliary Dyskinesia, Primary, 13 malady
Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Rare diseases, Respiratory diseases
Aliases & Descriptions for Ciliary Dyskinesia, Primary, 13:
ciliary dyskinesia, primary, 13:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases, Nephrological diseases, Respiratory diseases
UniProtKB/Swiss-Prot:69 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).
Disease Ontology:11 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
Description from OMIM:51 613193
Human phenotypes related to Ciliary Dyskinesia, Primary, 13:63 (show all 9)
Genetic tests related to Ciliary Dyskinesia, Primary, 13:
UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 13:69
Clinvar genetic disease variations for Ciliary Dyskinesia, Primary, 13:5
Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 13.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet