1. Mendelian
  2. Rare Disease Genes
  3. NUS1

NUS1 gene related symptoms and diseases

All the information presented here about the NUS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to NUS1 gene

Symptoms // Phenotype % Cases
Status epilepticus Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NUS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Spasticity
  • Microcephaly
  • Generalized hypotonia

  • Not very common - Between 30% and 50% cases

  • Hypodontia
  • Epileptic encephalopathy
  • Cyanosis
  • Choreoathetosis
  • Involuntary movements

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NUS1 gene

Here you will find a list of rare diseases related to the NUS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

SOURCES: OMIM

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Alternate names

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

SOURCES: OMIM ORPHANET

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Most common symptoms of CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

SOURCES: OMIM


Potential gene panels for NUS1 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.

NUS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NUS1 gene.

More info about this panel
United States.

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