TBCD gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TBCD gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Fasciculations Very Common - Between 80% and 100% cases
Neurodegeneration Very Common - Between 80% and 100% cases
Tetraplegia Very Common - Between 80% and 100% cases
Gliosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Delayed myelination
  • Neuronal loss in central nervous system
  • Spastic tetraplegia
  • Hypsarrhythmia
  • Progressive neurologic deterioration
  • Postnatal microcephaly
  • Severe muscular hypotonia
  • Developmental regression

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TBCD gene

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


EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME


Description

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Most common symptoms of EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for TBCD gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

TBCD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBCD gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel


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