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.

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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). Genetic Heterogeneity of Pseudohypoaldosteronism Type IIPHA2A has been mapped to chromosome 1q31-q42. PHA2B (OMIM ) is caused by mutations in the WNK4 gene on chromosome 17q21 (OMIM ). PHA2C (OMIM ) is caused by mutations in the WNK1 gene on chromosome 12p13 (OMIM ). PHA2D (OMIM ) is caused by mutations in the KLHL3 gene (OMIM ) on chromosome 5q31. PHA2E (OMIM ) is caused by mutations in the CUL3 gene (OMIM ) on chromosome 2q36.Boyden et al. (2012) observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E).

Most common symptoms of PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hypertension


More info about PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A

SOURCES: ORPHANET OMIM

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). Genetic Heterogeneity of Type II PseudohypoaldosteronismFor a discussion of genetic heterogeneity of type II pseudohypoaldosteronism, see PHA2A (OMIM ).

Most common symptoms of PSEUDOHYPOALDOSTERONISM TYPE 2D

  • Hypertension
  • Acidosis
  • Metabolic acidosis
  • Hyperkalemia
  • Pseudohypoaldosteronism


More info about PSEUDOHYPOALDOSTERONISM TYPE 2D

SOURCES: OMIM ORPHANET


Potential gene panels for KLHL3 gene

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

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 panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

KLHL3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KLHL3 gene.

More info about this panel

Pseudohypoaldosteronism type IID (sequence analysis of KLHL3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KLHL3 gene.

More info about this panel

Pseudohypoaldosteronism (NGS panel of 9 genes) Panel

Portugal.

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 panel

Pseudohypoaldosteronism (NGS panel of 9 genes) Panel

Portugal.

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 panel

Pseudohypoaldosteronism, type IID-KLHL3 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the KLHL3 gene.

More info about this panel

Pseudohypoaldosteronism Type II Sequencing Panel with CNV Detection Panel

United States.

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 panel

Pseudohypoaldosteronism Type II via KLHL3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KLHL3 gene.

More info about this panel

Hypertension Panel

Germany.

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 panel

Hereditary kidney disorders - different panels Panel

Germany.

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 panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

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 panel

Bartter Syndrome panel Panel

Germany.

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 panel

Pseudohypoaldosteronism, type IID Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KLHL3 gene.

More info about this panel

Pseudohypoaldosteronism Panel Panel

Germany.

By CeGaT GmbH Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2

More info about this panel

BARTTER SYNDROME Panel

Spain.

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 panel

Autism NGS Panel Panel

United States.

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 panel

Pseudohypoaldosteronism Type 2 NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pseudohypoaldosteronism Type 2 NGS Panel that also includes the following genes: WNK1 WNK4 CUL3 KLHL3

More info about this panel

KLHL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLHL3 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

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 panel

Pseudohypoaldosteronism Panel Panel

Finland.

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 panel

Pseudohypoaldosteronism Type II NGS and Deletion/Duplication Panel Panel

United States.

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 panel

KLHL3 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the KLHL3 gene.

More info about this panel

PSEUDOHYPOALDOSTERONISM, TYPE 2 - GORDON SYNDROME (AUTOSOMAL DOMINANT) Panel

Spain.

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 panel

PSEUDOHYPOALDOSTERONISM NGS PANEL Panel

Spain.

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 panel

BARTTER SYNDROME NGS PANEL Panel

Spain.

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 panel

Pseudohypoaldosteronism Type IID , Sequencing KLHL3 Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KLHL3 gene.

More info about this panel

Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

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 panel

Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

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 panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

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 panel

Pseudohypoaldosteronism Type II: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pseudohypoaldosteronism Type II: gene sequencing panel that also includes the following genes: WNK1 WNK4 CUL3 KLHL3

More info about this panel


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