RSPH4A gene related symptoms and diseases
All the information presented here about the RSPH4A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RSPH4A gene
Symptoms // Phenotype | % Cases |
---|---|
Nasal obstruction | Very Common - Between 80% and 100% cases |
Situs inversus totalis | Very Common - Between 80% and 100% cases |
Bronchiectasis | Very Common - Between 80% and 100% cases |
Neonatal respiratory distress | Very Common - Between 80% and 100% cases |
Otitis media | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RSPH4A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dyskinesia
- Cough
- Respiratory tract infection
- Ciliary dyskinesia
- Chronic rhinitis
- Recurrent respiratory infections
- Recurrent sinusitis
- Respiratory distress
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RSPH4A gene
Here you will find a list of rare diseases related to the RSPH4A. 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
CILIARY DYSKINESIA, PRIMARY, 11; CILD11
Alternate names
CILIARY DYSKINESIA, PRIMARY, 11; CILD11 Is also known as ciliary dyskinesia, primary, 11, without situs inversus
Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 11; CILD11
- Short stature
- Respiratory distress
- Recurrent respiratory infections
- Respiratory tract infection
- Cough
More info about CILIARY DYSKINESIA, PRIMARY, 11; CILD11
Search interest in RSPH4A
Potential gene panels for RSPH4A gene
Comprehensive Pulmonary Panel Panel
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 panelPrimary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel
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 panelCiliopathies Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panelBronchiectasis Panel (17 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Bronchiectasis Panel (17 Genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G RSPH1 NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A
More info about this panelPulmoGene Panel (64 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelPCDNext Panel
By Ambry Genetics PCDNext that also includes the following genes: RPGR SPAG1 NME8 LRRC6 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A CCDC39
More info about this panelPrimary Ciliary Dyskinesia Seq + Del/Dup Panel Panel
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 panelPrimary Ciliary Dyskinesia Seq Analysis Panel
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 panelComprehensive Pulmonary-Vascular Seq Analysis Panel
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 panelComprehensive Pulmonary-Vascular Del/Dup Panel Panel
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 panelPrimary Ciliary Dyskinesia Del/Dup Panel Panel
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 panelComprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
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 panelCiliary dyskinesia, primary 11 (sequence analysis of RSPH4A gene) Panel
By CGC Genetics
This panel specifically test the RSPH4A gene.
More info about this panelCiliopathies (NGS panel for 90 genes) Panel
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 panelPrimary ciliary dyskinesia (NGS panel for 27 genes) Panel
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 panelPrimary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the RSPH4A gene.
More info about this panelPrimary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel
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 panelCiliopathy Sequencing Panel with CNV Detection Panel
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 panelPrimary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection Panel
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 panelPulmonary diseases - panels Panel
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panelPrimary ciliary dyskinesia type 11 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the RSPH4A gene.
More info about this panelComprehensive pulmonary disease panel Panel
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panelPrimary Ciliary Dyskinesia Panel Panel
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 panelPrimary Ciliary Dyskinesia 11: RSPH4A-Related Primary Ciliary Dyskinesia Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the RSPH4A gene.
More info about this panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
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 panelInvitae Primary Ciliary Dyskinesia Panel Panel
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 panelInvitae Ciliopathies Panel Panel
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 panelPRIMARY CILIARY DYSKINESIA Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PRIMARY CILIARY DYSKINESIA that also includes the following genes: NME8 LRRC6 DNAI2 HYDIN RSPH9 RSPH4A DNAL1 CCDC39 DNAAF5 CCDC40
More info about this panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panelBronchiectasis: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bronchiectasis: Sequencing Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1
More info about this panelPulmonary Disease: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panelBronchiectasis: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bronchiectasis: Deletion/Duplication Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1
More info about this panelCiliopathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelBronchiectasis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Bronchiectasis NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1
More info about this panelLung Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panelRSPH4A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RSPH4A gene.
More info about this panelPrimary Ciliary Dyskinesia Panel Panel
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 panelComplement System Disorder Panel Panel
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 panelComprehensive Pulmonology Panel Panel
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panelBronchiectasis Panel Panel
By Blueprint Genetics Bronchiectasis Panel that also includes the following genes: SCNN1A SCNN1B NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1 CCDC39
More info about this panelCILIARY DYSKINESIA, PRIMARY NGS PANEL Panel
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 panelPrimary Ciliary Dyskinesia , Panel Massive Sequencing (NGS) 17 Genes Panel
By Reference Laboratory Genetics Primary Ciliary Dyskinesia , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: NME8 LRRC6 DNAI2 HYDIN RSPH9 RSPH4A DNAL1 CCDC39 DNAAF5 CCDC40
More info about this panelPrimary Ciliary Dyskinesia: gene sequencing panel Panel
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
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