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.
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
Search interest in CACNA1B
Potential gene panels for CACNA1B gene
Dystonia (NGS panel for 43 genes) Panel
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 panelNeurogenetic Disorders - panels Panel
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 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 panelDystonia type 23 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1B gene.
More info about this panelDystonia All Panel Panel
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 panelSingle gene testing CACNA1B Panel
By CeGaT GmbH
This panel specifically test the CACNA1B gene.
More info about this panelDystonia Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CPA6 NTHL1 F2 FOXF1 DCLRE1C DPY19L2 SMC1A