TPK1 gene related symptoms and diseases

All the information presented here about the TPK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to TPK1 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Confusion	Very Common - Between 80% and 100% cases
Episodic ataxia	Very Common - Between 80% and 100% cases
Mild microcephaly	Very Common - Between 80% and 100% cases
Loss of speech	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TPK1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Progressive spasticity
Global brain atrophy
Dysphonia
Truncal ataxia
Left ventricular hypertrophy
Intention tremor
Ventricular hypertrophy
Brain atrophy

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TPK1 gene

Here you will find a list of rare diseases related to the TPK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Alternate names

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Description

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

Most common symptoms of CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Ataxia

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

SOURCES: OMIM ORPHANET

Search interest in TPK1

Potential gene panels for TPK1 gene

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

TPK1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TPK1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to TPK1 gene

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Alternate names

Description

Most common symptoms of CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Search interest in TPK1

Potential gene panels for TPK1 gene

Dystonia Panel

Movement Disorders Panel Panel

Dystonia Exome Panel Panel

Ataxia Exome Panel Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Neurogenetic Disorders - panels Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Epilepsy Panel

AllNeuro panel Panel

Thiamine metabolism dysfunction syndrome type 5 Panel

Nuclear encoded Mitochondriopathies Panel Panel

Dystonia: Sequencing Panel Panel

Intellectual Disability NGS Panel Panel

TPK1 Panel