VWA3B gene related symptoms and diseases

All the information presented here about the VWA3B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to VWA3B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal pyramidal sign Very Common - Between 80% and 100% cases
Lower limb spasticity Very Common - Between 80% and 100% cases
Intention tremor Very Common - Between 80% and 100% cases
Abnormal cerebellum morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with VWA3B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Falls
  • Unsteady gait
  • Dysmetria
  • Cerebellar atrophy
  • Ataxia
  • Hypoplasia of the corpus callosum
  • Tremor
  • Dysarthria

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to VWA3B gene

Here you will find a list of rare diseases related to the VWA3B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22


Most common symptoms of SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

SOURCES: OMIM


Potential gene panels for VWA3B gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

VWA3B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VWA3B gene.

More info about this panel


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