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MCID: CLR140
MIFTS: 16
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Ciliary Dyskinesia, Primary, 40
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:
Name: Ciliary Dyskinesia, Primary, 40
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood relatively mild phenotype Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Respiratory diseases Reproductive diseases Ear diseases |
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OMIM
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58
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)
MalaCards based summary : Ciliary Dyskinesia, Primary, 40, is also known as ciliary dyskinesia, primary, 40, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 40 is DNAH9 (Dynein Axonemal Heavy Chain 9). Affiliated tissues include lung and heart. |
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618300 |
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MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 40:42
Lung,
Heart
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 40:6 (show all 18)
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Search
GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 40.
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