GUF1 gene related symptoms and diseases
All the information presented here about the GUF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GUF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Spastic tetraparesis | Very Common - Between 80% and 100% cases |
| Epileptic encephalopathy | Very Common - Between 80% and 100% cases |
| Hypsarrhythmia | Very Common - Between 80% and 100% cases |
| Spasticity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GUF1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Intellectual disability, profound
- Myoclonus
- Tetraparesis
- Choreoathetosis
Not very common - Between 30% and 50% cases
- Brain atrophy
- Status epilepticus
- Progressive microcephaly
- Intellectual disability
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GUF1 gene
Here you will find a list of rare diseases related to the GUF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WEST SYNDROME
Alternate names
WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome, infantile spasm syndrome, x-linked 1, xmesid, west syndrome, x-linked, ohtahara syndrome, x-linked, infantile spasms, infantile epileptic-dyskinetic encephalopathy, issx1
Description
West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.
Most common symptoms of WEST SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about WEST SYNDROME
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40
- Seizures
- Generalized hypotonia
- Spasticity
- Myoclonus
- Cerebral cortical atrophy
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40
SOURCES: OMIM
Search interest in GUF1
Potential gene panels for GUF1 gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Early infantile epileptic encephalopathy type 40 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GUF1 gene.
More info about this panel Germany.
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