Ciliary Dyskinesia, Primary, 25; Cild25
Description
Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. 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 Tarkar et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.
Genes related to Ciliary Dyskinesia, Primary, 25; Cild25
- DNAAF4
- DNAAF4-CCPG1
Clinical Features
Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 25; Cild25
- Microcephaly
- Respiratory distress
- Infertility
- Dyskinesia
- Bronchiectasis
- Situs inversus totalis
- Neonatal respiratory distress
- Dextrocardia
- Ciliary dyskinesia
- Decreased fertility
And another 6 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, 25; Cild25 Is also known as ciliary dyskinesia, primary, 25, 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, 25; Cild25 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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
50 % |
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
50 % |
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
50 % |
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
50 % |
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
50 % |
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
50 % |
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
50 % |
Comprehensive Pulmonary-Vascular Seq + 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
50 % |
You can get up to 19 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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