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.

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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


Potential gene panels for DENND5A 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

DENND5A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DENND5A gene.

More info about this panel


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