CILD41
MCID: CLR141
MIFTS: 18
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Ciliary Dyskinesia, Primary, 41 (CILD41)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 41:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
one patient with confirmed biallelic mutations affecting only the gas2l2 gene has been reported (last curated may 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Respiratory diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Ciliary dyskinesia, primary, 41: 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. CILD41 inheritance is autosomal recessive.
MalaCards based summary : Ciliary Dyskinesia, Primary, 41, is also known as cild41. An important gene associated with Ciliary Dyskinesia, Primary, 41 is GAS2L2 (Growth Arrest Specific 2 Like 2). Related phenotypes are recurrent otitis media and infertility Disease Ontology : 12 A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has material basis in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12. OMIM® : 57 Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis (Bustamante-Marin et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618449) (Updated 05-Mar-2021) |
Human phenotypes related to Ciliary Dyskinesia, Primary, 41:31 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618449 (Updated 05-Mar-2021) |
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Articles related to Ciliary Dyskinesia, Primary, 41:
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 41:6
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GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 41.
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