TOMM40 gene related symptoms and diseases

All the information presented here about the TOMM40 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TOMM40 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Language impairment Very Common - Between 80% and 100% cases
Deposits immunoreactive to beta-amyloid protein Very Common - Between 80% and 100% cases
Semantic dementia Very Common - Between 80% and 100% cases
Neurodevelopmental abnormality Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TOMM40 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal social behavior
  • Abnormality of higher mental function
  • Dysgraphia
  • Disinhibition
  • Neurofibrillary tangles
  • Aphasia
  • Agitation
  • Alzheimer disease

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TOMM40 gene

Here you will find a list of rare diseases related to the TOMM40. 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


Potential gene panels for TOMM40 gene

Frontotemporal Dementia (FTD) Panel Panel

Germany.

By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2

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

Single gene testing TOMM40 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TOMM40 gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

TOMM40 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TOMM40 gene.

More info about this panel


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