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: ORPHANET,NCBIGENE,HGNC,OMIM.

Top 5 symptoms associated to ABCA7 gene



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

Other less frequent symptoms

Patients with ABCA7 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Abnormality of vision Oculomotor apraxia Language impairment Aphasia Agitation Autosomal dominant inheritance Dysgraphia Abnormality of higher mental function

And 21 more phenotypes.

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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.


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

  • Autosomal dominant inheritance
  • Behavioral abnormality
  • Depressivity
  • Cerebral cortical atrophy
  • Parkinsonism


More info about ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

SOURCES: MONDO OMIM MESH UMLS

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

Alternate names

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as eofad; early-onset familial autosomal dominant alzheimer disease; 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
  • Cerebral cortical atrophy


More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

SOURCES: UMLS ORPHANET

Potential gene panels for ABCA7 gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: FMR1 UBE3A PTEN ADSL MFRP NDP MECP2 GAMT GATM STXBP1

More info about this panel

Alzheimer's disease Panel Panel

By CeGaT GmbH in Germany. Alzheimer's disease Panel that also includes the following genes: APP PSEN1 PSEN2 APOE TBP NLGN1 VPS35 ABCA7 TOMM40 MARK4

More info about this panel

Dementia all Panel Panel

By CeGaT GmbH in Germany. Dementia all Panel that also includes the following genes: APP PSEN1 OPTN VCP GRN SQSTM1 PSEN2 MAPT APOE C9orf72

More info about this panel

ABCA7 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCA7 gene.

More info about this panel

Dementia Panel Panel

By Blueprint Genetics in Finland. Dementia Panel that also includes the following genes: UBE3A APP PSEN1 VCP GRN PSEN2 MAPT APOE SNCA SIGMAR1

More info about this panel


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