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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
Inheritance:
autosomal recessive
Miscellaneous:
one patient with confirmed biallelic mutations affecting only the gas2l2 gene has been reported (last curated may 2019) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Respiratory diseases Ear diseases |
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UniProtKB/Swiss-Prot
:
74
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). 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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618449 |
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Articles related to Ciliary Dyskinesia, Primary, 41:
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Genes related to Ciliary Dyskinesia, Primary, 41 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 41:6
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Search
GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 41.
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