CILD40
MCID: CLR140
MIFTS: 23
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Ciliary Dyskinesia, Primary, 40 (CILD40)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 40:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood relatively mild phenotype HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Respiratory diseases Ear diseases |
OMIM® :
57
CILD40 is an autosomal recessive primary ciliary dyskinesia with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018).
For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). (618300) (Updated 05-Mar-2021)
MalaCards based summary : Ciliary Dyskinesia, Primary, 40, is also known as cild40. An important gene associated with Ciliary Dyskinesia, Primary, 40 is DNAH9 (Dynein Axonemal Heavy Chain 9). Affiliated tissues include heart, and related phenotypes are azoospermia and cough Disease Ontology : 12 A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has material basis in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12. UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 40: 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. CILD40 inheritance is autosomal recessive. |
Human phenotypes related to Ciliary Dyskinesia, Primary, 40:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618300 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 40:40
Heart
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Articles related to Ciliary Dyskinesia, Primary, 40:
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 40:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 40:73
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Search
GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 40.
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