1. Mendelian
  2. Genes
  3. TRMT5

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.

Table of contents:

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


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

SOURCES: OMIM ORPHANET


Potential gene panels for TRMT5 gene

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

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 panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

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 panel
Germany.

Combined oxidative phosphorylation deficiency type 26 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TRMT5 gene.

More info about this panel
Germany.

TRMT5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRMT5 gene.

More info about this panel
United States.

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