TDP2 gene related symptoms and diseases

All the information presented here about the TDP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TDP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Macrotia Very Common - Between 80% and 100% cases
Prominent supraorbital ridges Very Common - Between 80% and 100% cases
Thick lower lip vermilion Very Common - Between 80% and 100% cases
Hypotelorism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TDP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Long face
  • Short philtrum
  • Deeply set eye
  • Narrow mouth
  • Seizures
  • Gait ataxia
  • Brachycephaly
  • Downslanted palpebral fissures

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to TDP2 gene

Here you will find a list of rare diseases related to the TDP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Alternate names

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23, spinocerebellar ataxia autosomal recessive type 23

Description

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

Most common symptoms of AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for TDP2 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

TDP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TDP2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TANGO2 COL18A1 CDK6 G6PD CNTN1 ALDH5A1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more