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.

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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

SOURCES: ORPHANET OMIM


Potential gene panels for CNBP gene

CNBP DNA Test (DM2) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CNBP gene.

More info about this panel

Myotonic Syndrome Advanced Evaluation Panel

United States.

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 panel

Myotonic dystrophy type 2 Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario

This panel specifically test the CNBP gene.

More info about this panel

ZNF9. CCTG expansion detection by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CNBP gene.

More info about this panel

CNBP. CCTG expansion detection by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CNBP gene.

More info about this panel

Myotonic dystrophy type 2 (CCTG expansion on ZNF9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CNBP gene.

More info about this panel

Myotonic Dystrophy type 2 Panel

Finland.

By Neuromuscular Research Unit, Neurogenetics University of Tampere

This panel specifically test the CNBP gene.

More info about this panel

Myotonic Dystrophy Type 2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CNBP gene.

More info about this panel

Myotonic dystrophy type II Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the CNBP gene.

More info about this panel

Myotonic dystrophy type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CNBP gene.

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

Test for Myotonic Dystrophy Type 2 Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the CNBP gene.

More info about this panel

Myotone Dystrophy Type 2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the CNBP gene.

More info about this panel

Myotone Dystrophy Type 2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the CNBP gene.

More info about this panel

Myotonic Dystrophy Type 2 Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the CNBP gene.

More info about this panel

Myotonic dystrophy II Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CNBP gene.

More info about this panel

Myotonic dystrophy type 2: ZNF9 gene expansion analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CNBP gene.

More info about this panel

CNBP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CNBP gene.

More info about this panel

Proximal myotonic myopathy Panel

Spain.

By Bioarray

This panel specifically test the CNBP gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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

More info about this panel


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