BVES gene related symptoms and diseases
All the information presented here about the BVES gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BVES gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Cardiomyopathy | Very Common - Between 80% and 100% cases |
| Arrhythmia | Very Common - Between 80% and 100% cases |
| Elevated serum creatine phosphokinase | Very Common - Between 80% and 100% cases |
| Proximal muscle weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with BVES gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscular dystrophy
- Limb muscle weakness
- Syncope
- Atrioventricular block
- Centrally nucleated skeletal muscle fibers
- Limb-girdle muscle weakness
- Sinus bradycardia
- Loss of ability to walk
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BVES gene
Here you will find a list of rare diseases related to the BVES. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X Is also known as autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, lgmd2x, muscular dystrophy, limb-girdle, type 2x
Description
Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X
- Muscle weakness
- Cardiomyopathy
- Arrhythmia
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X
Search interest in BVES
Potential gene panels for BVES gene
BVES Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BVES gene.
More info about this panel United States.
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6
More info about this panel Spain.
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