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.
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
Search interest in MT-ND4L
Potential gene panels for MT-ND4L gene
Comprehensive Mitochondrial Metabolic Panel Panel
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 panelMT-ND4L Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the MT-ND4L gene.
More info about this panelMitochondrial Genome Sequence Panel
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 panelMitochondrial Disorders (mtDNA) Sequencing Panel
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 panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
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 panelLeber optic atrophy (sequence analysis of MTND4L gene) Panel
By CGC Genetics
This panel specifically test the MT-ND4L gene.
More info about this panelLeber optic atrophy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND4L gene.
More info about this panelLeber optic atrophy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND4L gene.
More info about this panelMitochondrial genome panel Panel
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 panelMitochondrial complex I deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND4L gene.
More info about this panelMitochondrial complex I deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND4L gene.
More info about this panelmtDNA encoded Mitochondriopathies Panel Panel
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 panelRetinal Dystrophy Panel Panel
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 panelMVL Vision Panel Panel
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 panelMitochondrial Genome NGS Panel Panel
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
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