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
Search interest in ABCA7
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 panelAlzheimer'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 panelDementia 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 panelABCA7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCA7 gene.
More info about this panelDementia 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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IFRD1 NRAS LPCAT2 IKBKG MTHFS SPOCK1 KDM1A
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