CILD33
MCID: CLR125
MIFTS: 26
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Ciliary Dyskinesia, Primary, 33 (CILD33)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 33:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early childhood three unrelated probands have been reported (last curated january 2016) 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-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (616726) (Updated 05-Mar-2021)
MalaCards based summary : Ciliary Dyskinesia, Primary, 33, also known as cild33, is related to primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 33 is GAS8 (Growth Arrest Specific 8). Related phenotypes are recurrent otitis media and conductive hearing impairment Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has material basis in homozygous mutation in the GAS8 gene on chromosome 16q24. UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 33: 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. CILD33 inheritance is autosomal recessive. |
Human phenotypes related to Ciliary Dyskinesia, Primary, 33:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616726 (Updated 05-Mar-2021) |
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Articles related to Ciliary Dyskinesia, Primary, 33:
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 33:6 (show top 50) (show all 82)
UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 33:73
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GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 33.
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