GBA gene related symptoms and diseases

All the information presented here about the GBA 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.

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 GBA gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Hepatomegaly	Common - Between 50% and 80% cases
Hepatosplenomegaly	Common - Between 50% and 80% cases
Dementia	Common - Between 50% and 80% cases
Splenomegaly	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Strabismus
Dysphagia
Pancytopenia
Ataxia
Spasticity
Thrombocytopenia
Depressivity
Rigidity

And 438 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GBA gene

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

DEMENTIA, LEWY BODY; DLB

Alternate names

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia, diffuse lewy body disease

Description

Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

Most common symptoms of DEMENTIA, LEWY BODY; DLB

Cognitive impairment
Dysarthria
Depressivity
Pneumonia
Dementia

More info about DEMENTIA, LEWY BODY; DLB

SOURCES: ORPHANET OMIM

FAMILIAL DYSAUTONOMIA

Alternate names

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial, dys, hereditary sensory and autonomic neuropathy type iii, hereditary sensory and autonomic neuropathy type 3, hsan3, hsan iii, fd, riley-day syndrome

Description

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

Most common symptoms of FAMILIAL DYSAUTONOMIA

Seizures
Generalized hypotonia
Scoliosis
Ataxia
Growth delay

More info about FAMILIAL DYSAUTONOMIA

SOURCES: OMIM ORPHANET MESH

GAUCHER DISEASE TYPE 3

Alternate names

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease, cerebral juvenile and adult form of gaucher disease, gaucher disease, subacute neuronopathic type

Description

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

Most common symptoms of GAUCHER DISEASE TYPE 3

Intellectual disability
Seizures
Global developmental delay
Short stature
Scoliosis

More info about GAUCHER DISEASE TYPE 3

SOURCES: ORPHANET

GAUCHER DISEASE TYPE 2

Alternate names

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease, acute neuronopathic gaucher disease

Description

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

Most common symptoms of GAUCHER DISEASE TYPE 2

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Scoliosis

More info about GAUCHER DISEASE TYPE 2

SOURCES: ORPHANET

GAUCHER DISEASE TYPE 1

Alternate names

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral, gd iii, gaucher disease, chronic neuronopathic type, non-cerebral juvenile gaucher disease, gaucher disease, subacute neuronopathic type

Description

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

Most common symptoms of GAUCHER DISEASE TYPE 1

Seizures
Global developmental delay
Short stature
Scoliosis
Ataxia

More info about GAUCHER DISEASE TYPE 1

SOURCES: ORPHANET OMIM

GAUCHER DISEASE, TYPE II

Alternate names

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type, gd ii

Description

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

Most common symptoms of GAUCHER DISEASE, TYPE II

Seizures
Global developmental delay
Failure to thrive
Strabismus
Spasticity

More info about GAUCHER DISEASE, TYPE II

SOURCES: OMIM

GAUCHER DISEASE, TYPE I

Alternate names

GAUCHER DISEASE, TYPE I Is also known as gd i, glucocerebrosidase deficiency, acid beta-glucosidase deficiency, gba deficiency, gaucher disease, noncerebral juvenile

Description

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

Most common symptoms of GAUCHER DISEASE, TYPE I

Seizures
Generalized hypotonia
Ataxia
Failure to thrive
Strabismus

More info about GAUCHER DISEASE, TYPE I

SOURCES: OMIM

FETAL GAUCHER DISEASE

Alternate names

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease, gaucher disease, collodion type

Description

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

Most common symptoms of FETAL GAUCHER DISEASE

Seizures
Generalized hypotonia
Microcephaly
Hypertelorism
Micrognathia

More info about FETAL GAUCHER DISEASE

SOURCES: ORPHANET MESH OMIM

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Alternate names

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease, gaucher-like disease, gaucher disease type 3c

Description

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

Most common symptoms of GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Seizures
Global developmental delay
Short stature
Hearing impairment
Strabismus

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

SOURCES: OMIM ORPHANET

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Description

Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

Ataxia
Cognitive impairment
Dysarthria
Tremor
Dysphagia

More info about PARKINSON DISEASE, LATE-ONSET; PD

SOURCES: OMIM

HEREDITARY LATE-ONSET PARKINSON DISEASE

Alternate names

HEREDITARY LATE-ONSET PARKINSON DISEASE Is also known as autosomal dominant late-onset parkinson disease, lopd

Description

Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

Most common symptoms of HEREDITARY LATE-ONSET PARKINSON DISEASE

Dysphagia
Dystonia
Depressivity
Dementia
Cerebral cortical atrophy

More info about HEREDITARY LATE-ONSET PARKINSON DISEASE

SOURCES: ORPHANET

Search interest in GBA

Potential gene panels for GBA gene

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) Panel

United States.

By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) that also includes the following genes: SMPD1 FANCC GBA ELP1 ASPA

GBA gene related symptoms and diseases

Top 5 symptoms and clinical features associated to GBA gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to GBA gene

DEMENTIA, LEWY BODY; DLB

Alternate names

Description

Most common symptoms of DEMENTIA, LEWY BODY; DLB

FAMILIAL DYSAUTONOMIA

Alternate names

Description

Most common symptoms of FAMILIAL DYSAUTONOMIA

GAUCHER DISEASE TYPE 3

Alternate names

Description

Most common symptoms of GAUCHER DISEASE TYPE 3

GAUCHER DISEASE TYPE 2

Alternate names

Description

Most common symptoms of GAUCHER DISEASE TYPE 2

GAUCHER DISEASE TYPE 1

Alternate names

Description

Most common symptoms of GAUCHER DISEASE TYPE 1

GAUCHER DISEASE, TYPE II

Alternate names

Description

Most common symptoms of GAUCHER DISEASE, TYPE II

GAUCHER DISEASE, TYPE I

Alternate names

Description

Most common symptoms of GAUCHER DISEASE, TYPE I

FETAL GAUCHER DISEASE

Alternate names

Description

Most common symptoms of FETAL GAUCHER DISEASE

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Alternate names

Description

Most common symptoms of GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

Description

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

HEREDITARY LATE-ONSET PARKINSON DISEASE

Alternate names

Description

Most common symptoms of HEREDITARY LATE-ONSET PARKINSON DISEASE

Search interest in GBA

Potential gene panels for GBA gene

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) Panel

Ashkenazic Genetic Disease Screen (without Cystic Fibrosis) Panel

Gaucher Disease Ashkenazic Mutation Panel Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

GeneAware ACMG/ACOG Panel Version 2 (Male) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

Non-immune Hydrops Panel Panel

Lysosomal Storage Disease Panel Panel

Gaucher Disease Panel

Gaucher disease Panel

Ashkenazi Jewish Carrier Screening Panel Panel

Test for Gaucher Disease Panel

Movement Disorders Panel Panel

Parkinson's Disease Panel

Gaucher Disease, DNA analysis Panel

GBA Sequencing Panel

Gaucher Disease Panel

GBA Panel

Lysosomal Storage Disease Panel Panel

Gaucher Disease (GBA), 8 Variants Panel

Gaucher Disease Panel

GBA mutation analysis Panel

GBA. Detection of the mutations p.Asn370Ser, p.Leu444Pro, c.93_94insG and c.27 1G>A by sequencing Panel

GBA. Complete sequencing Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Gaucher disease (sequence analysis of GBA gene) Panel