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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM


Potential gene panels for RSPH4A 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 Panel

United States.

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 panel

Bronchiectasis Panel (17 Genes) Panel

United States.

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 panel

PulmoGene Panel (64 Genes) Panel

United States.

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 panel

PCDNext Panel

United States.

By Ambry Genetics PCDNext that also includes the following genes: RPGR SPAG1 NME8 LRRC6 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A CCDC39

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

Ciliary dyskinesia, primary 11 (sequence analysis of RSPH4A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RSPH4A gene.

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) via RSPH4A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RSPH4A gene.

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

Pulmonary diseases - panels Panel

Germany.

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 panel

Primary ciliary dyskinesia type 11 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RSPH4A gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

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 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

Primary Ciliary Dyskinesia 11: RSPH4A-Related Primary Ciliary Dyskinesia Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the RSPH4A gene.

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

PRIMARY CILIARY DYSKINESIA Panel

Spain.

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 panel

Ciliopathies: Sequencing Panel Panel

United States.

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 panel

Bronchiectasis: Sequencing Panel Panel

United States.

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 panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

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 panel

Bronchiectasis: Deletion/Duplication Panel Panel

United States.

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 panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

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 panel

Ciliopathies NGS Panel Panel

United States.

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 panel

Bronchiectasis NGS Panel Panel

United States.

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 panel

Lung Disorders NGS Panel Panel

United States.

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 panel

RSPH4A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RSPH4A 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

Comprehensive Pulmonology Panel Panel

Finland.

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 panel

Bronchiectasis Panel Panel

Finland.

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 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 , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

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 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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