NACC1 gene related symptoms and diseases

All the information presented here about the NACC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NACC1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Absent speech Very Common - Between 80% and 100% cases
Mutism Very Common - Between 80% and 100% cases
Stereotypy Very Common - Between 80% and 100% cases
Hypsarrhythmia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NACC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Delayed myelination
  • Broad nasal tip
  • Congenital cataract
  • Irritability
  • Developmental regression
  • Difficulty walking
  • Cerebral atrophy
  • Seizures

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NACC1 gene

Here you will find a list of rare diseases related to the NACC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT


Description

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

Most common symptoms of SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT

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


More info about SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT

SOURCES: OMIM ORPHANET


Potential gene panels for NACC1 gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

NACC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NACC1 gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel


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