Ciliary Dyskinesia, Primary, 23; Cild23

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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}.

Genes related to Ciliary Dyskinesia, Primary, 23; Cild23

ARMC4

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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

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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
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 Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B 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 Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, CCDC103, MCIDAS, GAS8 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 Panel complete gene list RPGR, SPAG1, NME8, LRRC6, DNAI2, CFTR, DNAAF2, RSPH9, RSPH4A, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, CCDC103 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 Panel complete gene list RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, MCIDAS, GAS8 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 Panel complete gene list RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, MCIDAS, GAS8 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 Panel complete gene list RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, EIF2AK4, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, COPA, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, ABCA3, ENG, FLNA, FOXF1, MCIDAS, GAS8, GATA2, GDF2, JAG1, KCNA5, KCNK3, SMAD4, SMAD9, MARS, NOTCH2, RASA1 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 Panel complete gene list RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, EIF2AK4, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, COPA, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, ABCA3, ENG, FLNA, FOXF1, MCIDAS, GAS8, GATA2, GDF2, JAG1, KCNA5, KCNK3, SMAD4, SMAD9, MARS, NOTCH2, RASA1 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 Panel complete gene list RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, MCIDAS, GAS8 Specificity 3 % Genes 100 %

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Sources and references

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