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.
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
Search interest in NACC1
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 United States.
NACC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NACC1 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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