CFAP298 gene related symptoms and diseases

All the information presented here about the CFAP298 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFAP298 gene

Symptoms // Phenotype % Cases
Ciliary dyskinesia Very Common - Between 80% and 100% cases
Respiratory tract infection Very Common - Between 80% and 100% cases
Neonatal respiratory distress Very Common - Between 80% and 100% cases
Chronic bronchitis Very Common - Between 80% and 100% cases
Situs inversus totalis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CFAP298 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Bronchiectasis
  • Recurrent otitis media
  • Dyskinesia
  • Infertility
  • Recurrent sinusitis
  • Recurrent respiratory infections
  • Respiratory distress
  • Not very common - Between 30% and 50% cases

  • Crackles

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CFAP298 gene

Here you will find a list of rare diseases related to the CFAP298. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY CILIARY DYSKINESIA


Alternate names

PRIMARY CILIARY DYSKINESIA Is also known as ics, polynesian bronchiectasis, ciliary dyskinesia, primary, 1, with or without situs inversus, pcd, immotile cilia syndrome

Description

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

Most common symptoms of PRIMARY CILIARY DYSKINESIA

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


More info about PRIMARY CILIARY DYSKINESIA

SOURCES: ORPHANET OMIM

CILIARY DYSKINESIA, PRIMARY, 26; CILD26


Alternate names

CILIARY DYSKINESIA, PRIMARY, 26; CILD26 Is also known as ciliary dyskinesia, primary, 26, with or without situs inversus

Description

Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 26; CILD26

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Paralysis
  • Infertility


More info about CILIARY DYSKINESIA, PRIMARY, 26; CILD26

SOURCES: OMIM


Potential gene panels for CFAP298 gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Primary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Primary Ciliary Dyskinesia and Cystic Fibrosis Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS

More info about this panel

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel

Primary ciliary dyskinesia (NGS panel for 27 genes) Panel

Portugal.

By CGC Genetics Primary ciliary dyskinesia (NGS panel for 27 genes) that also includes the following genes: SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 HYDIN ZMYND10 DNAAF2

More info about this panel

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10

More info about this panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 CFTR

More info about this panel

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 ZMYND10

More info about this panel

Primary Ciliary Dyskinesia (PCD) via CFAP298 (C21ORF59) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CFAP298 gene.

More info about this panel

Primary ciliary dyskinesia type 26 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CFAP298 gene.

More info about this panel

Primary Ciliary Dyskinesia Panel Panel

Germany.

By CeGaT GmbH Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 CENPF CCNO DNAI2 HYDIN

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Primary Ciliary Dyskinesia Panel Panel

United States.

By Invitae Invitae Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 ZMYND10 DNAAF2

More info about this panel

Invitae Ciliopathies Panel Panel

United States.

By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237

More info about this panel

C21orf59 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFAP298 gene.

More info about this panel

Primary Ciliary Dyskinesia Panel Panel

Finland.

By Blueprint Genetics Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CENPF CCNO DNAI2

More info about this panel

Heterotaxy and Situs Inversus Panel Panel

Finland.

By Blueprint Genetics Heterotaxy and Situs Inversus Panel that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 LRRC6 ACVR2B INVS PKD1L1 DNAI2 ZMYND10

More info about this panel

CILIARY DYSKINESIA, PRIMARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CILIARY DYSKINESIA, PRIMARY NGS PANEL that also includes the following genes: SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 HYDIN ZMYND10 DNAAF2

More info about this panel

Primary Ciliary Dyskinesia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Ciliary Dyskinesia: gene sequencing panel that also includes the following genes: SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 HYDIN ZMYND10 DNAAF2

More info about this panel


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