CILD26
MCID: CLR106
MIFTS: 30
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Ciliary Dyskinesia, Primary, 26 (CILD26)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 26:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or neonatal period HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Respiratory diseases Ear diseases
ICD10:
32
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OMIM® :
57
Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615500) (Updated 05-Mar-2021)
MalaCards based summary : Ciliary Dyskinesia, Primary, 26, also known as cild26, is related to mild cognitive impairment and chronic wasting disease. An important gene associated with Ciliary Dyskinesia, Primary, 26 is CFAP298 (Cilia And Flagella Associated Protein 298), and among its related pathways/superpathways is Copper homeostasis. Related phenotypes are recurrent otitis media and neonatal respiratory distress Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 26: 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. Patients may 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. |
Human phenotypes related to Ciliary Dyskinesia, Primary, 26:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615500 (Updated 05-Mar-2021) |
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Articles related to Ciliary Dyskinesia, Primary, 26:
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 26:6
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Search
GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 26.
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Cellular components related to Ciliary Dyskinesia, Primary, 26 according to GeneCards Suite gene sharing:
Biological processes related to Ciliary Dyskinesia, Primary, 26 according to GeneCards Suite gene sharing:
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