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  1. Mendelian
  2. Rare Disease Genes
  3. APBB2

APBB2 gene related symptoms and diseases

All the information presented here about the APBB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to APBB2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Brain atrophy Very Common - Between 80% and 100% cases
Long-tract signs Very Common - Between 80% and 100% cases
Cerebral amyloid angiopathy Very Common - Between 80% and 100% cases
Stroke-like episode Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with APBB2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Senile plaques
  • Lewy bodies
  • Neurofibrillary tangles
  • Alzheimer disease
  • Neuronal loss in central nervous system
  • Memory impairment
  • Parkinsonism
  • Seizures

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

Rare diseases associated to APBB2 gene

Here you will find a list of rare diseases related to the APBB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ALZHEIMER DISEASE; AD

Alternate names

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Description

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease.

Most common symptoms of ALZHEIMER DISEASE; AD

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema
More info about ALZHEIMER DISEASE; AD

SOURCES: OMIM

Potential gene panels for APBB2 gene

APBB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APBB2 gene.

More info about this panel
United States.

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