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.
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
Search interest in TRPM6
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 United States.
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.
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.
Hypomagnesemia type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TRPM6 gene.
More info about this panel Germany.
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 Spain.
TRPM6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRPM6 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.
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 Finland.
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 Finland.
Hypomagnesemia intestinal type 1 Panel
Spain.
By Bioarray
This panel specifically test the TRPM6 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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