MT-ND5 gene related symptoms and diseases
All the information presented here about the MT-ND5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-ND5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Tremor | Common - Between 50% and 80% cases |
| Abnormality of mitochondrial metabolism | Common - Between 50% and 80% cases |
| Cognitive impairment | Common - Between 50% and 80% cases |
| Peripheral neuropathy | Common - Between 50% and 80% cases |
| Optic atrophy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MT-ND5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Wolff-Parkinson-White syndrome
- Migraine
- Myopathy
- Arrhythmia
- Ataxia
- Dystonia
- Dementia
- Depressivity
And 371 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-ND5 gene
Here you will find a list of rare diseases related to the MT-ND5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
Alternate names
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset, park6
Most common symptoms of PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
- Pain
- Cognitive impairment
- Hyperreflexia
- Tremor
- Behavioral abnormality
More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
MERRF
Alternate names
MERRF Is also known as fukuhara syndrome, myoclonus epilepsy associated with ragged-red fibres, merrf syndrome
Description
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.
Most common symptoms of MERRF
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MERRF
MELAS
Alternate names
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Description
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
Most common symptoms of MELAS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MELAS
MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME
Alternate names
MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME Is also known as maternally-inherited infantile subacute necrotizing encephalopathy, mtdna-associated leigh syndrome, mils, maternally-inherited leigh disease
Description
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
More info about MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME
SOURCES: ORPHANET
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
Search interest in MT-ND5
Potential gene panels for MT-ND5 gene
Mitochondrial diseases Panel
United States.
By Center for Human Genetics, Inc Mitochondrial diseases that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
More info about this panel United States.
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 United States.
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 Argentina.
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 United States.
Comprehensive Cardiomyopathy Panel Panel
United States.
By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panel United States.
DCM/LVNC Sequencing Panel Panel
United States.
By GeneDx DCM/LVNC Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panel United States.
MTND5. Detection of the mutations m.12770A>G, m.13045A>C, m.13084A>T, m.13513G>A and m.13514A>G by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MT-ND5 gene.
More info about this panel Spain.
MTND5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MT-ND5 gene.
More info about this panel Spain.
MT-ND5. Detection of the mutations m.12770A>G, m.13045A>C, m.13084A>T, m.13513G>A and m.13514A>G by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MT-ND5 gene.
More info about this panel Spain.
MT-ND5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MT-ND5 gene.
More info about this panel Spain.
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes [sequence analysis of MT-TL1 and MT-ND5 (m.13513G>A) genes] Panel
Portugal.
By CGC Genetics
This panel specifically test the MT-ND5 gene.
More info about this panel Portugal.
Leber optic atrophy (sequence analysis of MTND5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MT-ND5 gene.
More info about this panel Portugal.
melas Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the MT-ND5 gene.
More info about this panel India.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Leber optic atrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND5 gene.
More info about this panel Germany.
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 Germany.
Mitochondrial dysfunctions panel Panel
Germany.
By Centogene AG - the Rare Disease Company Mitochondrial dysfunctions panel that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 PUS1 RRM2B DGUOK TYMP MPV17 MT-ND1
More info about this panel Germany.
Leber optic atrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND5 gene.
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
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 Germany.
Leigh’ disease Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the MT-ND5 gene.
More info about this panel India.
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 United States.
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 United States.
Leber's hereditary optic neuropathy: Mutations analysis (T4216C, G13708A and G15257A) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber's hereditary optic neuropathy: Mutations analysis (T4216C, G13708A and G15257A) that also includes the following genes: MT-CYB MT-ND1 MT-ND5
More info about this panel Spain.
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 United States.
MELAS syndrome Panel
Spain.
By Bioarray
This panel specifically test the MT-ND5 gene.
More info about this panel Spain.
Leigh Disease 3 mutation (T12706C, A13084T, G13513A) Panel
India.
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the MT-ND5 gene.
More info about this panel India.
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER HEREDITARY OPTIC NEUROPATHY (LHON) that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND2 MT-ND3 MT-ND5
More info about this panel Spain.
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