Ciliary Dyskinesia, Primary, 23; Cild23
Description
Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by Hjeij et al., 2013).For a 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, 23; Cild23
- Respiratory distress
- Dyskinesia
- Recurrent otitis media
- Bronchiectasis
- Situs inversus totalis
- Neonatal respiratory distress
- Ciliary dyskinesia
- Recurrent sinusitis
- Rhinitis
- Chronic bronchitis
And another 1 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, 23; Cild23 Is also known as ciliary dyskinesia, primary, 23, 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, 23; Cild23 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 % |
PCDNext.
By Ambry Genetics (United States).
RPGR, SPAG1, NME8, LRRC6, DNAI2, CFTR, DNAAF2, RSPH9, RSPH4A, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Primary Ciliary Dyskinesia Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4 , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
Primary Ciliary Dyskinesia Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4 , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
Comprehensive Pulmonary-Vascular Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10 , (...)
View the complete list with 45 more genes
Specificity
2 %
Genes
100 % |
Comprehensive Pulmonary-Vascular Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, EIF2AK4 , (...)
View the complete list with 44 more genes
Specificity
2 %
Genes
100 % |
Primary Ciliary Dyskinesia Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4 , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
You can get up to 18 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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