MT-ND4L gene related symptoms and diseases

All the information presented here about the MT-ND4L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MT-ND4L gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Vascular tortuosity Very Common - Between 80% and 100% cases
Optic neuropathy Very Common - Between 80% and 100% cases
Central scotoma Very Common - Between 80% and 100% cases
Abnormality of visual evoked potentials Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MT-ND4L gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Papilledema
  • Increased reactive oxygen species production
  • Dyschromatopsia
  • Osteosarcoma
  • Wolff-Parkinson-White syndrome
  • Leber optic atrophy
  • Neuritis
  • Retinal vascular tortuosity

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-ND4L gene

Here you will find a list of rare diseases related to the MT-ND4L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LEBER HEREDITARY OPTIC NEUROPATHY


Alternate names

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy, lhon, leber hereditary optic neuropathy

Description

Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

Most common symptoms of LEBER HEREDITARY OPTIC NEUROPATHY

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


More info about LEBER HEREDITARY OPTIC NEUROPATHY

SOURCES: OMIM ORPHANET


Potential gene panels for MT-ND4L 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

MT-ND4L Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the MT-ND4L gene.

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

Leber optic atrophy (sequence analysis of MTND4L gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-ND4L gene.

More info about this panel

Leber optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-ND4L gene.

More info about this panel

Leber optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-ND4L gene.

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

Mitochondrial complex I deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-ND4L gene.

More info about this panel

Mitochondrial complex I deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-ND4L 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

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

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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