ABCA7 gene related symptoms and diseases

All the information presented here about the ABCA7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCA7 gene

Symptoms // Phenotype % Cases
Neurofibrillary tangles Very Common - Between 80% and 100% cases
Cerebral cortical atrophy Very Common - Between 80% and 100% cases
Alzheimer disease Very Common - Between 80% and 100% cases
Disinhibition Very Common - Between 80% and 100% cases
Parkinsonism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ABCA7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Memory impairment
  • Not very common - Between 30% and 50% cases

  • Neuronal loss in central nervous system
  • Depressivity
  • Abnormality of extrapyramidal motor function
  • Delusions
  • Behavioral abnormality
  • Finger agnosia
  • Deposits immunoreactive to beta-amyloid protein

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCA7 gene

Here you will find a list of rare diseases related to the ABCA7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE


Alternate names

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease

Description

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

Most common symptoms of EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia


More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

SOURCES: ORPHANET

ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9


Alternate names

ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9 Is also known as alzheimer disease 9, late-onset

Most common symptoms of ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

  • Behavioral abnormality
  • Depressivity
  • Cerebral cortical atrophy
  • Parkinsonism
  • Memory impairment


More info about ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

SOURCES: OMIM MESH


Potential gene panels for ABCA7 gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Alzheimer's disease Panel Panel

Germany.

By CeGaT GmbH Alzheimer's disease Panel that also includes the following genes: TBP VPS35 MARK4 NLGN1 CD33 TOMM40 ABCA7 APOE APP PSEN1

More info about this panel

Dementia all Panel Panel

Germany.

By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4

More info about this panel

ABCA7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCA7 gene.

More info about this panel

Dementia Panel Panel

Finland.

By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R

More info about this panel


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