WNK1 gene related symptoms and diseases

All the information presented here about the WNK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to WNK1 gene

Symptoms // Phenotype % Cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Painless fractures due to injury Uncommon - Between 30% and 50% cases
Decreased nerve conduction velocity Uncommon - Between 30% and 50% cases
Osteolysis Uncommon - Between 30% and 50% cases
Foot acroosteolysis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with WNK1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Anhidrosis
  • Rarely - Less than 30% cases

  • Orthostatic hypotension
  • Osteolytic defects of the phalanges of the hand
  • Self-mutilation
  • Arthropathy
  • Decreased number of peripheral myelinated nerve fibers
  • Osteomyelitis
  • Axonal degeneration

And 62 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to WNK1 gene

Here you will find a list of rare diseases related to the WNK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2


Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 Is also known as hsan2, autosomal recessive sensory radicular neuropathy, hereditary sensory and autonomic neuropathy type ii, neurogenic acroosteolysis

Description

Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

  • Skeletal muscle atrophy
  • Hyperhidrosis
  • Hyperlordosis
  • Tapered finger
  • Abnormality of epiphysis morphology


More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

SOURCES: ORPHANET

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A


Alternate names

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A Is also known as acroosteolysis, neurogenic, neuropathy, hereditary sensory radicular, autosomal recessive, acroosteolysis, giaccai type, neuropathy, progressive sensory, of children, neuropathy, hereditary sensory, type iia, hsan iia, hsn iia, morvan disease, neuropathy, congeni

Most common symptoms of NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

SOURCES: OMIM

MORVAN SYNDROME


Alternate names

MORVAN SYNDROME Is also known as limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, morvan's fibrillary chorea

Description

Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.

Most common symptoms of MORVAN SYNDROME

  • Decreased nerve conduction velocity
  • Anhidrosis
  • Painless fractures due to injury


More info about MORVAN SYNDROME

SOURCES: ORPHANET

PSEUDOHYPOALDOSTERONISM TYPE 2C


Alternate names

PSEUDOHYPOALDOSTERONISM TYPE 2C Is also known as pha2c

Most common symptoms of PSEUDOHYPOALDOSTERONISM TYPE 2C

  • Hypertension
  • Metabolic acidosis
  • Hyperkalemia
  • Decreased circulating renin level
  • Pseudohypoaldosteronism


More info about PSEUDOHYPOALDOSTERONISM TYPE 2C

SOURCES: MESH ORPHANET OMIM


Potential gene panels for WNK1 gene

Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation Panel

United States.

By Athena Diagnostics Inc Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation that also includes the following genes: WNK1 NTRK1

More info about this panel

WNK1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the WNK1 gene.

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

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 IIC-WNK1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the WNK1 gene.

More info about this panel

Hereditary sensory and autonomic neuropathy type IIA Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the WNK1 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 WNK1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the WNK1 gene.

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1

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

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Type IIA Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the WNK1 gene.

More info about this panel

WNK1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the WNK1 gene.

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

HSAN2A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the WNK1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

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

HSN2 - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the WNK1 gene.

More info about this panel

Charcot-Marie-Tooth Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7

More info about this panel

Neuropathy, hereditare sensory and autonomic II Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the WNK1 gene.

More info about this panel

Pseudohypoaldosteronism, type IIC Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the WNK1 gene.

More info about this panel

Neuropathy, hereditare sensory and autonomic II Panel

Slovakia.

By MedGene

This panel specifically test the WNK1 gene.

More info about this panel

Pseudohypoaldosteronism, type IIC Panel

Slovakia.

By MedGene

This panel specifically test the WNK1 gene.

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1

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

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

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

Charcot Marie Tooth Disease Extended NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1

More info about this panel

WNK1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the WNK1 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

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A

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

WNK1 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 WNK1 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

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 that also includes the following genes: WNK1 RETREG1

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

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Type II: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Sensory and Autonomic Neuropathy Type II: gene sequencing panel that also includes the following genes: SCN9A WNK1 RETREG1 KIF1A

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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