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.
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
Search interest in WNK1
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 United States.
WNK1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the WNK1 gene.
More info about this panel United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
WNK1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the WNK1 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
HSAN2A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the WNK1 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
HSN2 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the WNK1 gene.
More info about this panel Netherlands.
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 Estonia.
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 Austria.
Pseudohypoaldosteronism, type IIC Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the WNK1 gene.
More info about this panel Austria.
Neuropathy, hereditare sensory and autonomic II Panel
Slovakia.
By MedGene
This panel specifically test the WNK1 gene.
More info about this panel Slovakia.
Pseudohypoaldosteronism, type IIC Panel
Slovakia.
By MedGene
This panel specifically test the WNK1 gene.
More info about this panel Slovakia.
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 United States.
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 United States.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
WNK1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WNK1 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
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 Portugal.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 Canada.
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 Canada.
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