MT-TP gene related symptoms and diseases
All the information presented here about the MT-TP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-TP gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Sensory axonal neuropathy | Very Common - Between 80% and 100% cases |
Ventricular extrasystoles | Very Common - Between 80% and 100% cases |
Progressive external ophthalmoplegia | Very Common - Between 80% and 100% cases |
Mitochondrial myopathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MT-TP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lipoma
- Hyperthyroidism
- Muscle fibrillation
- Multiple lipomas
- Mildly elevated creatine phosphokinase
- Right bundle branch block
- Ophthalmoparesis
- Intrahepatic cholestasis
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-TP gene
Here you will find a list of rare diseases related to the MT-TP. 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
Search interest in MT-TP
Potential gene panels for MT-TP gene
Comprehensive Mitochondrial Metabolic Panel Panel
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 panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelMitochondrial Genome Sequence Panel
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 panelMitochondrial Disorders (mtDNA) Sequencing Panel
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 panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
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 panelMitochondrial genome panel Panel
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 panelMitochondrial dysfunctions panel Panel
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 panelMERRF, 2. level m8356, m8363, m8361 in MTTK, m611, m15967 in MTTP Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-TP gene.
More info about this panelmtDNA encoded Mitochondriopathies Panel Panel
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 panelMitochondrial Genome NGS Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COQ8B SBF2 PRRT2 ACTG2 HERC2 TCHH ECM1