Ciliary Dyskinesia, Primary, 5; Cild5

Table of contents:

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

Description

CILD5 is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012).

Genes related to Ciliary Dyskinesia, Primary, 5; Cild5

HYDIN

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 5; Cild5

Respiratory insufficiency
Respiratory distress
Recurrent infections
Pneumonia
Cough
Dyskinesia
Otitis media
Recurrent otitis media
Bronchiectasis
Situs inversus totalis

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, 5; Cild5 Is also known as ciliary dyskinesia, primary, 5, 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, 5; Cild5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 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 %
Ciliary dyskinesia, primary 5 (sequence analysis of HYDIN gene). By CGC Genetics (Portugal). HYDIN Specificity 100 % Genes 100 %
Ciliopathies (NGS panel for 90 genes). By CGC Genetics (Portugal). SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...) View the complete list with 70 more genes Panel complete gene list SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7, NPHP4, HYDIN, ZMYND10, TTC8, DNAAF2, RSPH9, INPP5E, DNAAF4, RSPH4A, AHI1, DNAL1, B9D1, DRC1, TCTN3, EXOC8, TMEM216, CCDC39, ARL13B, ARMC4, TTC21B, OFD1, TCTN2, CPLANE1, DNAAF5, CCDC40, TCTN1, CSPP1, PIEZO2, BBS10, CCDC114, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, BBIP1, CCDC28B, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, CEP164, CC2D2A, DNAH11, GLIS2, DNAH5, DNAI1, CCDC65, BBS9, DNAAF3, KIF7, DNAAF1, CCDC103, TMEM231, ALMS1, LZTFL1, MKKS, MKS1, NODAL, NPHP1, NPHP3, PDE6D, PKD1, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %

You can get up to 10 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH 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 INFANTILE SIALIC ACID STORAGE DISEASE; ISSD MOHR-TRANEBJAERG SYNDROME; MTS JOUBERT SYNDROME 32; JBTS32 ROBERTS SYNDROME; RBS RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD SPONDYLOENCHONDRODYSPLASIA