TBCK gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TBCK gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Severe muscular hypotonia Very Common - Between 80% and 100% cases
Thick vermilion border Very Common - Between 80% and 100% cases
Highly arched eyebrow Very Common - Between 80% and 100% cases
Macroglossia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Brain atrophy
  • Narrow forehead
  • Sloping forehead
  • Cerebellar vermis hypoplasia
  • Gingival overgrowth
  • Cerebral visual impairment
  • Infantile muscular hypotonia
  • Bulbous nose

And 34 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 TBCK gene

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


TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME


Description

TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.

Most common symptoms of TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cognitive impairment


More info about TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for TBCK gene

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SBF2 FSHB COQ8A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more