DENND5A gene related symptoms and diseases
All the information presented here about the DENND5A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DENND5A gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Epileptic encephalopathy | Very Common - Between 80% and 100% cases |
Short philtrum | Very Common - Between 80% and 100% cases |
Severe global developmental delay | Very Common - Between 80% and 100% cases |
Everted lower lip vermilion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DENND5A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Tetraplegia
- Prominent nose
- Dandy-Walker malformation
- Cerebral calcification
- Anxiety
- Hypotelorism
- Spastic tetraplegia
- Open mouth
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DENND5A gene
Here you will find a list of rare diseases related to the DENND5A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49
Description
Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49
SOURCES: OMIM
Search interest in DENND5A
Potential gene panels for DENND5A gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelDENND5A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DENND5A gene.
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