Ciliary Dyskinesia, Primary, 18; Cild18

Description

Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 18; Cild18

  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia
  • Cough
  • Dyskinesia
  • Otitis media
  • Recurrent otitis media
  • Situs inversus totalis
  • Neonatal respiratory distress
  • Ciliary dyskinesia

And another 11 symptoms. If you need more information about this disease we can help you.

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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, 18; Cild18 Is also known as ciliary dyskinesia, primary, 18, 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, 18; Cild18 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
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
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
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
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
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
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
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
Specificity
3 %
Genes
100 %

You can get up to 24 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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