MT-TQ gene related symptoms and diseases
All the information presented here about the MT-TQ 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 MT-TQ gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| EMG abnormality | Very Common - Between 80% and 100% cases |
| Developmental regression | Very Common - Between 80% and 100% cases |
| Abnormality of the liver | Very Common - Between 80% and 100% cases |
| Neurological speech impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MT-TQ gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Generalized tonic-clonic seizures
- Ophthalmoplegia
- Lactic acidosis
- Generalized myoclonic seizures
- Migraine
- Increased serum lactate
- Generalized-onset seizure
- Pulmonary arterial hypertension
And 319 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-TQ gene
Here you will find a list of rare diseases related to the MT-TQ. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MERRF
Alternate names
MERRF Is also known as fukuhara syndrome, myoclonus epilepsy associated with ragged-red fibres, merrf syndrome
Description
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.
Most common symptoms of MERRF
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MERRF
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-TQ
Potential gene panels for MT-TQ 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.
Comprehensive Cardiomyopathy Panel Panel
United States.
By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panel United States.
HCM Sequencing Panel Panel
United States.
By GeneDx HCM Sequencing Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR ACTC1 CAV3 GLA LAMP2 MT-TG
More info about this panel United States.
DCM/LVNC Sequencing Panel Panel
United States.
By GeneDx DCM/LVNC Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panel United States.
Myopathy (sequence analysis of MTTQ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MT-TQ gene.
More info about this panel Portugal.
MELAS, MT-TQ-Related Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MT-TQ gene.
More info about this panel Germany.
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.
Myopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-TQ gene.
More info about this panel Germany.
Mitochondrial dysfunctions panel Panel
Germany.
By Centogene AG - the Rare Disease Company Mitochondrial dysfunctions panel that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 PUS1 RRM2B DGUOK TYMP MPV17 MT-ND1
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.
Comprehensive Cardiomyopathy Panel Panel
United States.
By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panel United States.
Dilated Cardiomyopathy Panel Panel
United States.
By ApolloGen, Inc. Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNI3 TNNT2 TPM1 VCL ACTC1
More info about this panel United States.
Hypertrophic Cardiomyopathy Panel Panel
United States.
By ApolloGen, Inc. Hypertrophic Cardiomyopathy Panel that also includes the following genes: BMPR2 TNNC1 TNNI3 TNNT2 TPM1 TTR CAV3 GLA LAMP2 MT-TG
More info about this panel United States.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
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