MT-TY gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to MT-TY gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Atrioventricular block Very Common - Between 80% and 100% cases
Basal ganglia calcification Very Common - Between 80% and 100% cases
Bundle branch block Very Common - Between 80% and 100% cases
Adrenal insufficiency Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Hemiplegia/hemiparesis
  • Ophthalmoparesis
  • Abnormality of mitochondrial metabolism
  • Bilateral ptosis
  • Nasal speech
  • Incoordination
  • Ventricular arrhythmia
  • Primary adrenal insufficiency

And 87 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-TY gene

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


KEARNS-SAYRE SYNDROME


Alternate names

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, cpeo with myopathy, oculocraniosomatic syndrome, ophthalmoplegia, progressive external, with ragged-red fibers, cpeo with ragged-red fibers, chronic progressive external ophthalmoplegia wi

Description

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Most common symptoms of KEARNS-SAYRE SYNDROME

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about KEARNS-SAYRE SYNDROME

SOURCES: OMIM MESH ORPHANET


Potential gene panels for MT-TY gene

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

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 panel

Mitochondrial Genome Sequence Panel

Argentina.

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 panel

Mitochondrial Disorders (mtDNA) Sequencing Panel

United States.

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 panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

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 panel

Mitochondrial genome panel Panel

Germany.

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 panel

Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-Ty related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-TY gene.

More info about this panel

mtDNA encoded Mitochondriopathies Panel Panel

Germany.

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 panel

Mitochondrial Genome NGS Panel Panel

United States.

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 panel


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