KLHL3 gene related symptoms and diseases
All the information presented here about the KLHL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KLHL3 gene
Symptoms // Phenotype | % Cases |
---|---|
Hyperkalemia | Very Common - Between 80% and 100% cases |
Hyperchloremia | Very Common - Between 80% and 100% cases |
Hypertension | Very Common - Between 80% and 100% cases |
Acidosis | Very Common - Between 80% and 100% cases |
Hyperchloremic metabolic acidosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KLHL3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pseudohypoaldosteronism
- Metabolic acidosis
Not very common - Between 30% and 50% cases
- Short stature
- Hyperchloremic acidosis
- Periodic hyperkalemic paralysis
- Periodic paralysis
- Decreased circulating aldosterone level
- Abnormality of dental enamel
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KLHL3 gene
Here you will find a list of rare diseases related to the KLHL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
Alternate names
PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A Is also known as hypertensive hyperkalemia, familial, hyperpotassemia and hypertension, familial, gordon hyperkalemia-hypertension syndrome
Description
Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (OMIM ) activity are variable associated findings (summary by Mansfield et al., 1997).
Most common symptoms of PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
- Short stature
- Growth delay
- Muscle weakness
- Cognitive impairment
- Hypertension
More info about PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
PSEUDOHYPOALDOSTERONISM TYPE 2D
Alternate names
PSEUDOHYPOALDOSTERONISM TYPE 2D Is also known as pha2d, familial hyperkalemic hypertension, fhht
Description
Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalemia, and hyperchloremic metabolic acidosis (summary by Louis-Dit-Picard et al., 2012).
Most common symptoms of PSEUDOHYPOALDOSTERONISM TYPE 2D
- Hypertension
- Acidosis
- Metabolic acidosis
- Hyperkalemia
- Pseudohypoaldosteronism
More info about PSEUDOHYPOALDOSTERONISM TYPE 2D
Search interest in KLHL3
Potential gene panels for KLHL3 gene
ExomePLUS Electrolyte & Kidney Stone Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panelCardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG
More info about this panelKLHL3. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KLHL3 gene.
More info about this panelPseudohypoaldosteronism type IID (sequence analysis of KLHL3 gene) Panel
By CGC Genetics
This panel specifically test the KLHL3 gene.
More info about this panelPseudohypoaldosteronism (NGS panel of 9 genes) Panel
By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2
More info about this panelPseudohypoaldosteronism (NGS panel of 9 genes) Panel
By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2
More info about this panelPseudohypoaldosteronism, type IID-KLHL3 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KLHL3 gene.
More info about this panelPseudohypoaldosteronism Type II Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pseudohypoaldosteronism Type II Sequencing Panel with CNV Detection that also includes the following genes: WNK1 WNK4 CUL3 KLHL3
More info about this panelPseudohypoaldosteronism Type II via KLHL3 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KLHL3 gene.
More info about this panelHypertension Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertension that also includes the following genes: SCNN1A SCNN1G SDHA SDHB SDHC SDHD WNK1 WNK4 CUL3 CYP17A1
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelNephrology Endocrinology and Electrolytes - panels Panel
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panelBartter Syndrome panel Panel
By Centogene AG - the Rare Disease Company Bartter Syndrome panel that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panelPseudohypoaldosteronism, type IID Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KLHL3 gene.
More info about this panelPseudohypoaldosteronism Panel Panel
By CeGaT GmbH Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2
More info about this panelBARTTER SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BARTTER SYNDROME that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panelAutism NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelPseudohypoaldosteronism Type 2 NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pseudohypoaldosteronism Type 2 NGS Panel that also includes the following genes: WNK1 WNK4 CUL3 KLHL3
More info about this panelKLHL3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KLHL3 gene.
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelPseudohypoaldosteronism Panel Panel
By Blueprint Genetics Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KCNJ5 KLHL3 NR3C2
More info about this panelPseudohypoaldosteronism Type II NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Pseudohypoaldosteronism Type II NGS and Deletion/Duplication Panel that also includes the following genes: WNK1 WNK4 CUL3 KLHL3
More info about this panelKLHL3 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the KLHL3 gene.
More info about this panelPSEUDOHYPOALDOSTERONISM, TYPE 2 - GORDON SYNDROME (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL PSEUDOHYPOALDOSTERONISM, TYPE 2 - GORDON SYNDROME (AUTOSOMAL DOMINANT) that also includes the following genes: WNK1 WNK4 CUL3 KLHL3
More info about this panelPSEUDOHYPOALDOSTERONISM NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PSEUDOHYPOALDOSTERONISM NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2
More info about this panelBARTTER SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL BARTTER SYNDROME NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panelPseudohypoaldosteronism Type IID , Sequencing KLHL3 Panel
By Reference Laboratory Genetics
This panel specifically test the KLHL3 gene.
More info about this panelBartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Panel
By Reference Laboratory Genetics Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 CA2 WNK1 WNK4 CASR BSND
More info about this panelPseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2
More info about this panelAutism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelPseudohypoaldosteronism Type II: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pseudohypoaldosteronism Type II: gene sequencing panel that also includes the following genes: WNK1 WNK4 CUL3 KLHL3
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