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.

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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

SOURCES: OMIM ORPHANET

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


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

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


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