AP3B2 gene related symptoms and diseases

All the information presented here about the AP3B2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AP3B2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Absent speech Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Epileptic encephalopathy Very Common - Between 80% and 100% cases
Encephalopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AP3B2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Status epilepticus
  • Generalized hypotonia
  • Microcephaly
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Spasticity
  • Feeding difficulties
  • Poor eye contact
  • Hypsarrhythmia

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AP3B2 gene

Here you will find a list of rare diseases related to the AP3B2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48


Description

Early infantile epileptic encephalopathy-48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum 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, 48; EIEE48

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


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48

SOURCES: OMIM


Potential gene panels for AP3B2 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

AP3B2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AP3B2 gene.

More info about this panel

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN1A SCN2A SCN8A SCN9A ST3GAL3 SLC1A2 SLC25A12 SPTAN1 CDKL5 STXBP1

More info about this panel


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