TRMT5 gene related symptoms and diseases
All the information presented here about the TRMT5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRMT5 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Poor speech | Very Common - Between 80% and 100% cases |
Gastrointestinal dysmotility | Very Common - Between 80% and 100% cases |
Mitochondrial myopathy | Very Common - Between 80% and 100% cases |
Exertional dyspnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TRMT5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Glucose intolerance
- Ragged-red muscle fibers
- Exercise intolerance
- Blue sclerae
- Increased serum lactate
- Delayed myelination
- Brain atrophy
- Triangular face
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TRMT5 gene
Here you will find a list of rare diseases related to the TRMT5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26
Alternate names
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Failure to thrive
- Muscle weakness
Search interest in TRMT5
Potential gene panels for TRMT5 gene
Mitochondrial 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 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 panelCombined oxidative phosphorylation deficiency type 26 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TRMT5 gene.
More info about this panelTRMT5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRMT5 gene.
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