CACNA1B gene related symptoms and diseases

All the information presented here about the CACNA1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CACNA1B gene

Symptoms // Phenotype % Cases
Tremor Very Common - Between 80% and 100% cases
Limb dystonia Very Common - Between 80% and 100% cases
Panic attack Very Common - Between 80% and 100% cases
Limb tremor Very Common - Between 80% and 100% cases
Craniofacial dystonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CACNA1B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Axial dystonia
  • Writer's cramp
  • Supraventricular arrhythmia
  • Focal dystonia
  • Head tremor
  • Hyperventilation
  • Dysphonia
  • Gait disturbance

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CACNA1B gene

Here you will find a list of rare diseases related to the CACNA1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADULT-ONSET CERVICAL DYSTONIA, DYT23 TYPE


Alternate names

ADULT-ONSET CERVICAL DYSTONIA, DYT23 TYPE Is also known as dystonia 23, dyt23

Description

Adult-onset cervical dystonia, DYT23 type is a rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.

Most common symptoms of ADULT-ONSET CERVICAL DYSTONIA, DYT23 TYPE

  • Tremor
  • Gait disturbance
  • Cerebellar atrophy
  • Dystonia
  • Arrhythmia


More info about ADULT-ONSET CERVICAL DYSTONIA, DYT23 TYPE

SOURCES: OMIM ORPHANET


Potential gene panels for CACNA1B gene

Dystonia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

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

Dystonia type 23 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CACNA1B gene.

More info about this panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Single gene testing CACNA1B Panel

Germany.

By CeGaT GmbH

This panel specifically test the CACNA1B gene.

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

More info about this panel


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