Ciliary Dyskinesia, Primary, 36, X-linked; Cild36

Table of contents:

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

Description

CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

Genes related to Ciliary Dyskinesia, Primary, 36, X-linked; Cild36

PIH1D3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 36, X-linked; Cild36

Respiratory distress
Cough
Infertility
Dyskinesia
Otitis media
Bronchiectasis
Sinusitis
Situs inversus totalis
Chronic otitis media
Neonatal respiratory distress

And another 6 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, 36, X-linked; Cild36 Is also known as ciliary dyskinesia, primary, 36, 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, 36, X-linked; Cild36 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CFAP53, CCDC114, ANKS6, CCDC151, PIH1D3, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, LEFTY2, CCDC103, FOXH1, GAS8, GDF1, NODAL 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 Panel complete gene list RPGR, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, ZMYND10, AK7, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, PIH1D3, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, CCDC103, MCIDAS, GAS8 Specificity 3 % 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 Panel complete gene list RPGR, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CCNO, DNAI2, ZMYND10, AK7, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CCDC151, PIH1D3, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, CCDC103, MCIDAS, GAS8 Specificity 3 % Genes 100 %
Primary Ciliary Dyskinesia (PCD) via PIH1D3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). PIH1D3 Specificity 100 % Genes 100 %
Primary Ciliary Dyskinesia Panel. By Blueprint Genetics (Finland). RPGR, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1 , (...) View the complete list with 16 more genes Panel complete gene list RPGR, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, PIH1D3, DNAH1, DNAH11, DNAH5, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, GAS8 Specificity 3 % Genes 100 %
Comprehensive Pulmonology Panel. By Blueprint Genetics (Finland). SCN4A, SCNN1A, SCNN1B, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, ZEB2, HPS4 , (...) View the complete list with 46 more genes Panel complete gene list SCN4A, SCNN1A, SCNN1B, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, ZEB2, HPS4, RTEL1, NME8, DNAI2, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, DNAAF2, RSPH3, RSPH9, RSPH4A, COLQ, DNAL1, CSF2RA, CSF2RB, CCDC39, CCDC40, FLCN, ELMOD2, PIH1D3, DKC1, DNAH1, DNAH11, DNAH5, DNAI1, DNAAF1, EDN3, EFEMP2, ABCA3, ELN, FBLN5, FOXF1, GAS8, GLRA1, HPS1, ITGA3, LTBP4, MECP2, NF1, PARN, SERPINA1, PHOX2B, RAPSN, RET Specificity 2 % Genes 100 %
Heterotaxy and Situs Inversus Panel. By Blueprint Genetics (Finland). SPAG1, ZIC3, CFAP298, MMP21, LRRC6, ACVR2B, INVS, PKD1L1, DNAI2, ZMYND10, DNAAF2, DNAAF4, DNAL1, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CCDC114, ANKS6 , (...) View the complete list with 12 more genes Panel complete gene list SPAG1, ZIC3, CFAP298, MMP21, LRRC6, ACVR2B, INVS, PKD1L1, DNAI2, ZMYND10, DNAAF2, DNAAF4, DNAL1, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CCDC114, ANKS6, CCDC151, PIH1D3, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, LEFTY2, CCDC103, FOXH1, GDF1, NODAL Specificity 4 % Genes 100 %
CILIARY DYSKINESIA, PRIMARY NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). SPAG1, RSPH1, CFAP298, NME8, LRRC6, CCNO, DNAI2, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, TTC25, ARMC4, DNAAF5 , (...) View the complete list with 14 more genes Panel complete gene list SPAG1, RSPH1, CFAP298, NME8, LRRC6, CCNO, DNAI2, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CCDC114, CCDC151, PIH1D3, DNAH1, DNAH11, DNAH5, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, CCDC103, GAS8 Specificity 3 % Genes 100 %

You can get up to 0 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3