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

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 ).

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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 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
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
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
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 %

We have 0 more panels available in our App

Get the app

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 NEU-LAXOVA SYNDROME 2; NLS2 X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more