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.
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
Search interest in CNNM2
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 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.
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 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.
Hypomagnesemia type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CNNM2 gene.
More info about this panel Germany.
CNNM2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CNNM2 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 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 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, 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 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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