Ciliary Dyskinesia, Primary, 35; Cild35

Description

Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 35; Cild35

  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia
  • Bronchiectasis
  • Sinusitis
  • Situs inversus totalis
  • Recurrent pneumonia
  • Ciliary dyskinesia

And another 6 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, 35; Cild35 Is also known as ciliary dyskinesia, primary, 35, 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, 35; Cild35 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 %
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
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
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
Specificity
3 %
Genes
100 %
TTC25.

By Fulgent Genetics Fulgent Genetics (United States).

TTC25
Specificity
100 %
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
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
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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