TRPM6 gene related symptoms and diseases

All the information presented here about the TRPM6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TRPM6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hyperkinesis Very Common - Between 80% and 100% cases
Hypocalciuria Very Common - Between 80% and 100% cases
Tetany Very Common - Between 80% and 100% cases
Calcinosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TRPM6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypomagnesemia
  • Restlessness
  • Steatorrhea
  • Hypercalciuria
  • Nephrocalcinosis
  • Seizures
  • Hypocalcemia
  • Chronic diarrhea

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TRPM6 gene

Here you will find a list of rare diseases related to the TRPM6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA


Alternate names

PRIMARY HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA Is also known as phsh, hypomagnesemic tetany, hsh, homg, hypomagnesemia with secondary hypocalcemia, intestinal hypomagnesemia with secondary hypocalcemia, hypomagnesemia caused by selective magnesium malabsorption, homg1, hypomagnesemia, intestinal, with secondary hypocalcemia, h

Description

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.

Most common symptoms of PRIMARY HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA

  • Intellectual disability
  • Seizures
  • Feeding difficulties
  • Tremor
  • Diarrhea


More info about PRIMARY HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA

SOURCES: ORPHANET OMIM MESH


Potential gene panels for TRPM6 gene

TRPM6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TRPM6 gene.

More info about this panel

Hypomagnesemia type 1 (sequence analysis of TRPM6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TRPM6 gene.

More info about this panel

Hypomagnesemia type 1 (deletion/duplication analysis of TRPM6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TRPM6 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 type 1 (deletion/duplication analysis of TRPM6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TRPM6 gene.

More info about this panel

Hypomagnesemia 1, intestinal Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the TRPM6 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

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

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

Hypomagnesemia type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TRPM6 gene.

More info about this panel

Hypomagnesemia with secondary hypocalcemia: TRPM6 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TRPM6 gene.

More info about this panel

TRPM6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRPM6 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 intestinal type 1 Panel

Spain.

By Bioarray

This panel specifically test the TRPM6 gene.

More info about this panel

HYPOMAGNESEMIA, INTESTINAL WITH SECONDARY HYPOCALCEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TRPM6 gene.

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

Hypomagnesemia with Secondary Hypocalcemia , Sequencing TRPM6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TRPM6 gene.

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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