Ciliary Dyskinesia, Primary, 34; Cild34

Description

Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 34; Cild34

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia
  • Bronchiectasis
  • Ciliary dyskinesia
  • Recurrent sinopulmonary infections

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, 34; Cild34 Is also known as ciliary dyskinesia, primary, 34, 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.


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Ciliary Dyskinesia, Primary, 34; Cild34 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 %
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 %
Primary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DNAJB13
Specificity
100 %
Genes
100 %
DNAJB13.

By Fulgent Genetics Fulgent Genetics (United States).

DNAJB13
Specificity
100 %
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 Search Engine

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