KCNK3 gene related symptoms and diseases
All the information presented here about the KCNK3 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 KCNK3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertension | Uncommon - Between 30% and 50% cases |
| Dilatation | Uncommon - Between 30% and 50% cases |
| Arrhythmia | Uncommon - Between 30% and 50% cases |
| Pulmonary arterial hypertension | Uncommon - Between 30% and 50% cases |
| Thromboembolism | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KCNK3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Increased pulmonary vascular resistance
- Elevated pulmonary artery pressure
Rare diseases associated to KCNK3 gene
Here you will find a list of rare diseases related to the KCNK3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PULMONARY HYPERTENSION, PRIMARY, 4; PPH4
Description
Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (OMIM ).
Most common symptoms of PULMONARY HYPERTENSION, PRIMARY, 4; PPH4
- Hypertension
- Dilatation
- Arrhythmia
- Pulmonary arterial hypertension
- Thromboembolism
More info about PULMONARY HYPERTENSION, PRIMARY, 4; PPH4
SOURCES: OMIM
HERITABLE PULMONARY ARTERIAL HYPERTENSION
Alternate names
HERITABLE PULMONARY ARTERIAL HYPERTENSION Is also known as hpah, hereditary pulmonary arterial hypertension, familial pulmonary arterial hypertension, fpah
Description
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
More info about HERITABLE PULMONARY ARTERIAL HYPERTENSION
SOURCES: ORPHANET
Search interest in KCNK3
Potential gene panels for KCNK3 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 United States.
Arterial Hypertension Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4
More info about this panel United States.
Pulmonary Arterial Hypertension Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4 SMAD9
More info about this panel United States.
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG KCNK3
More info about this panel United States.
Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3
More info about this panel United States.
Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2
More info about this panel Netherlands.
Pulmonary Hypertension Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Pulmonary Hypertension Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Pulmonary Hypertension Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Pulmonary hypertension, primary, 4 (sequence analysis of KCNK3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNK3 gene.
More info about this panel Portugal.
Pulmonary hypertension, primary, 4 (sequence analysis of KCNK3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNK3 gene.
More info about this panel Portugal.
KCNK3-related pulmonary arterial hypertension Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the KCNK3 gene.
More info about this panel United States.
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNI3 TRDN
More info about this panel United States.
Pulmonary hypertension NGS panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension NGS panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Vascular malformations Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Pulmonary hypertension Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Deletion / Duplication panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Pulmonary hypertension Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Comprehensive panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Vascular malformations NGS panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Vascular malformations Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
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 Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Pulmonary Arterial Hypertension Panel
Estonia.
By Asper Biogene Asper Biogene LLC Pulmonary Arterial Hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG KCNK3 SMAD9
More info about this panel Estonia.
Auricular Fibrillation Panel Panel
Spain.
By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panel Spain.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Pulmonary Hypertension Panel Panel
Spain.
By Health in Code Pulmonary Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG GDF2 KCNA5 KCNK3 SMAD1 SMAD4
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Atrial fibrillation Panel Panel
Spain.
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panel Spain.
Pulmonary hypertension Panel Panel
Spain.
By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Heritable pulmonary arterial hypertension Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Heritable pulmonary arterial hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 KCNK3 SMAD9
More info about this panel Spain.
KCNK3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNK3 gene.
More info about this panel United States.
Pulmonary Artery Hypertension (PAH) Panel Panel
Finland.
By Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel that also includes the following genes: BMPR2 TBX4 CAV1 NFU1 ACVRL1 EIF2AK4 ENG FOXF1 KCNA5 KCNK3
More info about this panel Finland.
PULMONARY HYPERTENSION, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panel Spain.
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