CNBP gene related symptoms and diseases
All the information presented here about the CNBP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CNBP gene
Symptoms // Phenotype | % Cases |
---|---|
Cataract | Very Common - Between 80% and 100% cases |
Myotonia | Very Common - Between 80% and 100% cases |
Tachycardia | Uncommon - Between 30% and 50% cases |
Sudden cardiac death | Uncommon - Between 30% and 50% cases |
Decreased antibody level in blood | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CNBP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Palpitations
- Progressive muscle weakness
- Spontaneous abortion
- Hypercholesterolemia
- Leukoencephalopathy
- Epiphora
- Increased variability in muscle fiber diameter
- Neurofibrillary tangles
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CNBP gene
Here you will find a list of rare diseases related to the CNBP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROXIMAL MYOTONIC MYOPATHY
Alternate names
PROXIMAL MYOTONIC MYOPATHY Is also known as ricker syndrome, proximal myotonic dystrophy, myotonic dystrophy type 2, ricker disease
Description
Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
Most common symptoms of PROXIMAL MYOTONIC MYOPATHY
- Cataract
- Myotonia
More info about PROXIMAL MYOTONIC MYOPATHY
SOURCES: ORPHANET
MYOTONIC DYSTROPHY 2; DM2
Alternate names
MYOTONIC DYSTROPHY 2; DM2 Is also known as promm, proximal myotonic myopathy, dystrophia myotonica 2, myotonic myopathy, proximal, ricker syndrome
Description
Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).
Most common symptoms of MYOTONIC DYSTROPHY 2; DM2
- Intellectual disability
- Hearing impairment
- Muscle weakness
- Pain
- Cataract
More info about MYOTONIC DYSTROPHY 2; DM2
Search interest in CNBP
Potential gene panels for CNBP gene
CNBP DNA Test (DM2) Panel
By Athena Diagnostics Inc
This panel specifically test the CNBP gene.
More info about this panelMyotonic Syndrome Advanced Evaluation Panel
By Athena Diagnostics Inc Myotonic Syndrome Advanced Evaluation that also includes the following genes: SCN4A CNBP CAV3 CLCN1 DMPK HSPG2 ATP2A1
More info about this panelMyotonic dystrophy type 2 Panel
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the CNBP gene.
More info about this panelZNF9. CCTG expansion detection by PCR Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CNBP gene.
More info about this panelCNBP. CCTG expansion detection by PCR Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CNBP gene.
More info about this panelMyotonic dystrophy type 2 (CCTG expansion on ZNF9 gene) Panel
By CGC Genetics
This panel specifically test the CNBP gene.
More info about this panelMyotonic Dystrophy type 2 Panel
By Neuromuscular Research Unit, Neurogenetics University of Tampere
This panel specifically test the CNBP gene.
More info about this panelMyotonic Dystrophy Type 2 Panel
By MGZ Medical Genetics Center
This panel specifically test the CNBP gene.
More info about this panelMyotonic dystrophy type II Panel
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the CNBP gene.
More info about this panelMyotonic dystrophy type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CNBP gene.
More info about this panelAllNeuro panel Panel
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 panelTest for Myotonic Dystrophy Type 2 Panel
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the CNBP gene.
More info about this panelMyotone Dystrophy Type 2 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CNBP gene.
More info about this panelMyotone Dystrophy Type 2 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CNBP gene.
More info about this panelMyotonic Dystrophy Type 2 Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the CNBP gene.
More info about this panelMyotonic dystrophy II Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the CNBP gene.
More info about this panelMyotonic dystrophy type 2: ZNF9 gene expansion analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CNBP gene.
More info about this panelCNBP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CNBP gene.
More info about this panelProximal myotonic myopathy Panel
By Bioarray
This panel specifically test the CNBP gene.
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
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