GBA2 gene related symptoms and diseases

All the information presented here about the GBA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to GBA2 gene

Symptoms // Phenotype	% Cases
Urinary incontinence	Very Common - Between 80% and 100% cases
Dysphagia	Very Common - Between 80% and 100% cases
Lower limb spasticity	Very Common - Between 80% and 100% cases
Brisk reflexes	Very Common - Between 80% and 100% cases
Impaired vibration sensation in the lower limbs	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GBA2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Peripheral axonal neuropathy
Head tremor
Spastic dysarthria
Abnormal pyramidal sign
Pes cavus
Truncal ataxia
Cerebral atrophy
Babinski sign

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GBA2 gene

Here you will find a list of rare diseases related to the GBA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Description

Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Intellectual disability
Hearing impairment
Scoliosis
Ataxia
Nystagmus

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY

Alternate names

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY Is also known as autosomal recessive cerebellar ataxia due to gba2 deficiency

Description

Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.

Most common symptoms of AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY

Scoliosis
Nystagmus
Sensorineural hearing impairment
Spasticity
Dysphagia

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY

SOURCES: ORPHANET

Search interest in GBA2

Potential gene panels for GBA2 gene

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

GBA2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to GBA2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to GBA2 gene

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY

Search interest in GBA2

Potential gene panels for GBA2 gene

Hereditary Spastic Paraplegia Panel Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Spastic paraplegia type 46, AR (SPG46, sequence analysis of GBA2 gene) Panel

Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Spastic Paraplegia 46 via GBA2 Gene Sequencing with CNV Detection Panel

Mental retardation - different panels Panel

Neurogenetic Disorders - panels Panel

Cerebellar ataxia with spasticity Panel

AllNeuro panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Ataxia and differential diagnoses Panel Panel

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Hereditary Spastic Paraplegia Panel

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

GBA2 Panel

Spastic Paraplegia Panel Panel

Ataxia Panel Panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Hereditary Spastic Paraplegia: gene sequencing panel Panel