MTFMT gene related symptoms and diseases
All the information presented here about the MTFMT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTFMT gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Spasticity | Very Common - Between 80% and 100% cases |
Global developmental delay | Very Common - Between 80% and 100% cases |
Increased serum lactate | Very Common - Between 80% and 100% cases |
Optic atrophy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MTFMT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysarthria
- Ventricular septal defect
- Strabismus
- Nystagmus
- Increased CSF lactate
Not very common - Between 30% and 50% cases
- Hypertrichosis
- Dystonia
- Muscular hypotonia
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MTFMT gene
Here you will find a list of rare diseases related to the MTFMT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15
Alternate names
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15
Description
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
LEIGH SYNDROME WITH LEUKODYSTROPHY
Alternate names
LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy
Most common symptoms of LEIGH SYNDROME WITH LEUKODYSTROPHY
- Seizures
- Global developmental delay
- Hearing impairment
- Nystagmus
- Failure to thrive
SOURCES: ORPHANET
Search interest in MTFMT
Potential gene panels for MTFMT gene
MTFMT Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MTFMT gene.
More info about this panelMTFMT Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MTFMT gene.
More info about this panelComprehensive 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 panelCombined oxidative phosphorylation deficiency type 15 (sequence analysis of MTFMT gene) Panel
By CGC Genetics
This panel specifically test the MTFMT gene.
More info about this panelMitochondrial Combined Oxidative Phosphorylation Deficiency via MTFMT Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MTFMT gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelMitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
By PreventionGenetics PreventionGenetics Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: NDUFAF5 NDUFA13 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2
More info about this panelLeigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC
More info about this panelMitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panelLeigh Syndrome Panel
By MGZ Medical Genetics Center Leigh Syndrome that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 LRPPRC SLC19A3
More info about this panelCombined Respiratory Chain Defects Panel
By MGZ Medical Genetics Center Combined Respiratory Chain Defects that also includes the following genes: SUCLA2 SUCLG1 TK2 TSFM TUFM GFM1 MRPS16 MRPS22 PUS1 LRPPRC
More info about this panelLeigh Syndrome (nuclear DNA mutation) Panel
By MGZ Medical Genetics Center Leigh Syndrome (nuclear DNA mutation) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SURF1 COX10 COX15 COX6B1 TACO1 NDUFAF2
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelMitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic that also includes the following genes: SCO1 SCO2 SUCLA2 SUCLG1 SURF1 TWNK TK2 FBXL4 SLC19A3 COQ8A
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelMitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
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 panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelMTFMT Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTFMT gene.
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelEpileptic Encephalopathy Panel Panel
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 panelLeukodystrophy and Leukoencephalopathy Panel Panel
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
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