TRIT1 gene related symptoms and diseases

All the information presented here about the TRIT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TRIT1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cerebral atrophy Very Common - Between 80% and 100% cases
Esotropia Very Common - Between 80% and 100% cases
Generalized myoclonic seizures Very Common - Between 80% and 100% cases
Abnormal cardiac septum morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TRIT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • EEG abnormality
  • Cerebral cortical atrophy
  • Diabetes mellitus
  • Myoclonus
  • Encephalopathy
  • Absent speech
  • Dystonia
  • Seizures

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TRIT1 gene

Here you will find a list of rare diseases related to the TRIT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35


Description

COXPD35 is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

SOURCES: OMIM


Potential gene panels for TRIT1 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

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

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Germany.

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 panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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 panel

Mitochondrial Diseases Panel

Germany.

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 panel

Mitochondrial Encephalopathy Panel

Germany.

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 panel

Epilepsy Panel

Germany.

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 panel

TRIT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRIT1 gene.

More info about this panel


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