DRC1 gene related symptoms and diseases

All the information presented here about the DRC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DRC1 gene

Symptoms // Phenotype % Cases
Otitis media Very Common - Between 80% and 100% cases
Bronchiectasis Very Common - Between 80% and 100% cases
Respiratory distress Very Common - Between 80% and 100% cases
Ciliary dyskinesia Very Common - Between 80% and 100% cases
Pneumonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DRC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Neonatal respiratory distress
  • Situs inversus totalis
  • Sinusitis
  • Dyskinesia
  • Chronic sinusitis
  • Recurrent otitis media
  • Not very common - Between 30% and 50% cases

  • Asplenia
  • Duodenal atresia

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DRC1 gene

Here you will find a list of rare diseases related to the DRC1. 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, 21; CILD21


Alternate names

CILIARY DYSKINESIA, PRIMARY, 21; CILD21 Is also known as ciliary dyskinesia, primary, 21, without situs inversus

Description

Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 21; CILD21

  • Respiratory distress
  • Pneumonia
  • Dyskinesia
  • Otitis media
  • Recurrent otitis media


More info about CILIARY DYSKINESIA, PRIMARY, 21; CILD21

SOURCES: OMIM


Potential gene panels for DRC1 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

Primary Ciliary Dyskinesia Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Seq + Del/Dup Panel that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN

More info about this panel

Primary Ciliary Dyskinesia Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Seq Analysis that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Primary Ciliary Dyskinesia Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Del/Dup Panel that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

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

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 DRC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DRC1 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

DRC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DRC1 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

Complement System Disorder Panel Panel

Finland.

By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S

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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