FXYD2 gene related symptoms and diseases
All the information presented here about the FXYD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FXYD2 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Renal magnesium wasting | Very Common - Between 80% and 100% cases |
Hypomagnesemia | Very Common - Between 80% and 100% cases |
Hypertension | Very Common - Between 80% and 100% cases |
Renal insufficiency | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FXYD2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Chondrocalcinosis
Not very common - Between 30% and 50% cases
- Amelogenesis imperfecta
- Ankylosis
- Hypoparathyroidism
- Oligospermia
- Enuresis
- Tetany
- Persistence of primary teeth
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FXYD2 gene
Here you will find a list of rare diseases related to the FXYD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT
Alternate names
FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement, homg3, hypomagnesemia, isolated renal, hypomagnesemia, primary, due to defect in renal tubular transport of magnesium, renal hypomagnesemia type 3, hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis
Description
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Most common symptoms of FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT
- Seizures
- Hearing impairment
- Nystagmus
- Failure to thrive
- Strabismus
More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT
AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA
Alternate names
AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA Is also known as isolated renal magnesium wasting, isolated autosomal dominant hypomagnesemia, magnesium wasting, renal, homg2, renal hypomagnesemia type 2, magnesium loss, isolated renal
Description
Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Most common symptoms of AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA
- Seizures
- Hypertension
- Fatigue
- Renal insufficiency
- Muscle cramps
More info about AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA
Search interest in FXYD2
Potential gene panels for FXYD2 gene
FXYD2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FXYD2 gene.
More info about this panelHypomagnesemia type 2 (sequence analysis of FXYD2 gene) Panel
By CGC Genetics
This panel specifically test the FXYD2 gene.
More info about this panelHypomagnesemia (NGS panel for 17 genes) Panel
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panelHypomagnesemia (NGS panel for 17 genes) Panel
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panelHypomagnesemia-2, renal Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the FXYD2 gene.
More info about this panelHypomagnesemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panelHypomagnesemia via FXYD2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FXYD2 gene.
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 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 panelHypomagnesemia 2, renal Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FXYD2 gene.
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 panelFXYD2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FXYD2 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 panelHypomagnesemia Panel Panel
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelHYPOMAGNESEMIA, PRIMARY WITH HYPOCALCURIA (AUTOSOMAL DOMINANT ) Panel
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA, PRIMARY WITH HYPOCALCURIA (AUTOSOMAL DOMINANT ) that also includes the following genes: HNF1B FXYD2
More info about this panelHYPOMAGNESEMIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA NGS PANEL that also includes the following genes: CNNM2 SLC12A3 HNF1B TRPM6 CLDN16 CLDN19 EGF FXYD2 KCNA1
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 panelRenal Hypomagnesemia Type 2 , Sequencing FXYD2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FXYD2 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 panelFamilial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel
By Reference Laboratory Genetics Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR SARS2 TRPM6 CLCNKB CLDN16 CLDN19 EGF
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