GIGYF2 gene related symptoms and diseases
All the information presented here about the GIGYF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GIGYF2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Resting tremor | Common - Between 50% and 80% cases |
| Parkinsonism with favorable response to dopaminergic medication | Common - Between 50% and 80% cases |
| Bradykinesia | Common - Between 50% and 80% cases |
| Postural instability | Common - Between 50% and 80% cases |
| Rigidity | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GIGYF2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hearing impairment
- Apathy
- Parkinsonism
- Gliosis
- Frequent falls
- Diplopia
- Schizophrenia
- Akinesia
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GIGYF2 gene
Here you will find a list of rare diseases related to the GIGYF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SNOWFLAKE VITREORETINAL DEGENERATION
Alternate names
SNOWFLAKE VITREORETINAL DEGENERATION Is also known as snowflake vitreoretinal degeneration
Description
Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.
Most common symptoms of SNOWFLAKE VITREORETINAL DEGENERATION
- Hearing impairment
- Cleft palate
- Cataract
- Arthritis
- Cleft lip
More info about SNOWFLAKE VITREORETINAL DEGENERATION
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
Most common symptoms of PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
- Rigidity
- Postural instability
- Bradykinesia
- Resting tremor
- Parkinsonism with favorable response to dopaminergic medication
More info about PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
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 GIGYF2
Potential gene panels for GIGYF2 gene
Parkinson disease (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Portugal.
Parkinson Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
AllNeuro panel Panel
Germany.
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 panel Germany.
Parkinsons disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
Parkinson Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
NGS panel - Parkinson Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
GIGYF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GIGYF2 gene.
More info about this panel United States.
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