MT-TC gene related symptoms and diseases
All the information presented here about the MT-TC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-TC gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Bifid scrotum | Very Common - Between 80% and 100% cases |
| Adrenal insufficiency | Very Common - Between 80% and 100% cases |
| Overlapping toe | Very Common - Between 80% and 100% cases |
| Abnormality of neuronal migration | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MT-TC gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Focal segmental glomerulosclerosis
- Hemiplegia/hemiparesis
- Mask-like facies
- Aplasia/Hypoplasia of the cerebellum
- Aphasia
- Intestinal obstruction
- Personality changes
- Ophthalmoparesis
And 277 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-TC gene
Here you will find a list of rare diseases related to the MT-TC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MELAS
Alternate names
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Description
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
Most common symptoms of MELAS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MELAS
Search interest in MT-TC
Potential gene panels for MT-TC gene
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Mitochondrial Genome Sequence Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Mitochondrial Genome Sequence that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel Argentina.
Mitochondrial Disorders (mtDNA) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders (mtDNA) Sequencing that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND2 MT-ND3 MT-ND4L MT-ND5 MT-RNR2 MT-TA
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Mitochondrial genome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Mitochondrial genome panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel Germany.
MELAS syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-TC gene.
More info about this panel Germany.
mtDNA encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH mtDNA encoded Mitochondriopathies Panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel Germany.
Mitochondrial Genome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Mitochondrial Genome NGS Panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TLE6 ACTA1 CAMTA1 MPC1 TRPV6 MYO6 TNNT1