Ciliary Dyskinesia, Primary, 28; Cild28

Description

Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013).For a general 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, 28; Cild28

  • Respiratory distress
  • Dyskinesia
  • Recurrent otitis media
  • Bronchiectasis
  • Situs inversus totalis
  • Neonatal respiratory distress
  • Ciliary dyskinesia
  • Decreased fertility
  • Recurrent sinusitis
  • Rhinitis

And another 3 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, 28; Cild28 Is also known as ciliary dyskinesia, primary, 28, 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, 28; Cild28 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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %

We have 19 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SCHIZENCEPHALY PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more