CNNM2 gene related symptoms and diseases

All the information presented here about the CNNM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CNNM2 gene

Symptoms // Phenotype % Cases
Hypomagnesemia Very Common - Between 80% and 100% cases
Intellectual disability, moderate Common - Between 50% and 80% cases
Vertigo Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CNNM2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Headache
  • Not very common - Between 30% and 50% cases

  • Autistic behavior
  • Abnormal myelination
  • Moderate global developmental delay
  • Hyperactive deep tendon reflexes
  • Generalized muscle weakness
  • Poor speech
  • Muscle weakness

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CNNM2 gene

Here you will find a list of rare diseases related to the CNNM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOMAGNESEMIA 6, RENAL; HOMG6


Most common symptoms of HYPOMAGNESEMIA 6, RENAL; HOMG6

  • Muscle weakness
  • Headache
  • Vertigo
  • Hypomagnesemia


More info about HYPOMAGNESEMIA 6, RENAL; HOMG6

SOURCES: OMIM

HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR


Description

Hypomagnesemia, seizures, and mental retardation is a disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).

Most common symptoms of HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Absent speech


More info about HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

SOURCES: OMIM

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA


Description

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Most common symptoms of FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

SOURCES: ORPHANET


Potential gene panels for CNNM2 gene

Hypomagnesemia type 6 (sequence analysis of CNNM2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CNNM2 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

Test for Hypomagnesemia 6, Renal Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CNNM2 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

Hypomagnesemia type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CNNM2 gene.

More info about this panel

CNNM2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CNNM2 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 WITH NORMOCALCIURIA AND NORMOCALCEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA that also includes the following genes: CNNM2 EGF

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, Seizures, and Mental Retardation , Sequencing CNNM2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CNNM2 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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