Ciliary Dyskinesia, Primary, 26; Cild26
Description
Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.
Clinical Features
Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 26; Cild26
- Respiratory distress
- Recurrent respiratory infections
- Respiratory tract infection
- Paralysis
- Infertility
- Dyskinesia
- Recurrent otitis media
- Bronchiectasis
- Situs inversus totalis
- Neonatal respiratory distress
And another 7 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Ciliary Dyskinesia, Primary, 26; Cild26 Is also known as ciliary dyskinesia, primary, 26, with or without situs inversus.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Ciliary Dyskinesia, Primary, 26; Cild26 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Comprehensive Pulmonary Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
Ciliopathies (NGS panel for 90 genes).
By CGC Genetics (Portugal).
SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...)
View the complete list with 70 more genes
Specificity
2 %
Genes
100 % |
Primary ciliary dyskinesia (NGS panel for 27 genes).
By CGC Genetics (Portugal).
SPAG1, RSPH1, CFAP298, NME8, LRRC6, CCNO, DNAI2, HYDIN, ZMYND10, DNAAF2, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4, DNAAF5, CCDC40, CCDC114 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40 , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RPGR, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, ZMYND10, AK7, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39 , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
Ciliopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RPGR, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CCNO, DNAI2, ZMYND10, AK7, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, TTC25 , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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