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.

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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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for FXYD2 gene

FXYD2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FXYD2 gene.

More info about this panel

Hypomagnesemia type 2 (sequence analysis of FXYD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FXYD2 gene.

More info about this panel

Hypomagnesemia (NGS panel for 17 genes) Panel

Portugal.

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 panel

Hypomagnesemia (NGS panel for 17 genes) Panel

Portugal.

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 panel

Hypomagnesemia-2, renal Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the FXYD2 gene.

More info about this panel

Hypomagnesemia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hypomagnesemia via FXYD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FXYD2 gene.

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

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

Hypomagnesemia 2, renal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FXYD2 gene.

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

FXYD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FXYD2 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

Hypomagnesemia Panel Panel

Finland.

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 panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

HYPOMAGNESEMIA, PRIMARY WITH HYPOCALCURIA (AUTOSOMAL DOMINANT ) Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA, PRIMARY WITH HYPOCALCURIA (AUTOSOMAL DOMINANT ) that also includes the following genes: HNF1B FXYD2

More info about this panel

HYPOMAGNESEMIA NGS PANEL Panel

Spain.

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 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

Renal Hypomagnesemia Type 2 , Sequencing FXYD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FXYD2 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

Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

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

More info about this panel


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