Ciliary Dyskinesia, Primary, 20; Cild20

Table of contents:

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

Description

CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

Genes related to Ciliary Dyskinesia, Primary, 20; Cild20

CCDC114

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 20; Cild20

Respiratory distress
Recurrent infections
Abnormal heart morphology
Pneumonia
Recurrent respiratory infections
Respiratory tract infection
Cough
Infertility
Dyskinesia
Otitis media

And another 13 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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, 20; Cild20 Is also known as ciliary dyskinesia, primary, 20, 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, 20; Cild20 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 %

You can get up to 22 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 CRISPONI SYNDROME MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A