MT-ND4 gene related symptoms and diseases
All the information presented here about the MT-ND4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-ND4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dystonia | Common - Between 50% and 80% cases |
| Peripheral neuropathy | Common - Between 50% and 80% cases |
| Optic atrophy | Common - Between 50% and 80% cases |
| Visual impairment | Common - Between 50% and 80% cases |
| Hyperreflexia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MT-ND4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Tremor
- Myoclonus
- Optic neuropathy
- Ragged-red muscle fibers
- Blindness
- Ataxia
- Migraine
- Global developmental delay
And 430 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-ND4 gene
Here you will find a list of rare diseases related to the MT-ND4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED COMPLEX I DEFICIENCY
Alternate names
ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency, nadh:q(1) oxidoreductase deficiency, isolated nadh-coq reductase deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, nadh-coenzyme q reductase
Description
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Most common symptoms of ISOLATED COMPLEX I DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about ISOLATED COMPLEX I DEFICIENCY
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
LEBER OPTIC ATROPHY AND DYSTONIA
Alternate names
LEBER OPTIC ATROPHY AND DYSTONIA Is also known as leber hereditary optic neuropathy with dystonia, ldyt, dystonia, familial, with visual failure and striatal lucencies, marsden syndrome
Most common symptoms of LEBER OPTIC ATROPHY AND DYSTONIA
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Strabismus
More info about LEBER OPTIC ATROPHY AND DYSTONIA
MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE
Alternate names
MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE Is also known as mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure, streptomycin ototoxicity, mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure, mitochondrial non-syndromic sensorineura
Description
The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (Akiyoshoi et al., 1976). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.
Most common symptoms of MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE
- Aminoglycoside-induced hearing loss
More info about MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE
LEBER PLUS DISEASE
Alternate names
LEBER PLUS DISEASE Is also known as lhon plus disease
Description
Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
Most common symptoms of LEBER PLUS DISEASE
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
- Muscle weakness
More info about LEBER PLUS DISEASE
SOURCES: ORPHANET
Search interest in MT-ND4
Potential gene panels for MT-ND4 gene
LHON mtDNA Evaluation Panel
United States.
By Athena Diagnostics Inc LHON mtDNA Evaluation that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel United States.
Leber Hereditary Optic Neuropathy Panel
United States.
By Center for Human Genetics, Inc Leber Hereditary Optic Neuropathy that also includes the following genes: MT-ND1 MT-ND4
More info about this panel United States.
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.
MT-ND4 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the MT-ND4 gene.
More info about this panel Germany.
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.
MTND1, MTND4, MTND6. Detection of the mutations m.11778G>A, m.14484T>C y m.3460G>A by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica MTND1, MTND4, MTND6. Detection of the mutations m.11778G>A, m.14484T>C y m.3460G>A by sequencing that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel Spain.
MT-ND1, MT-ND6, MT-ND4. Detection of the mutations m.11778G>A, m.14484T>C and m.3460G>A by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica MT-ND1, MT-ND6, MT-ND4. Detection of the mutations m.11778G>A, m.14484T>C and m.3460G>A by sequencing that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel Spain.
Leber optic atrophy (sequence analysis of MTND4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MT-ND4 gene.
More info about this panel Portugal.
Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel
Portugal.
By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3
More info about this panel Portugal.
Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel
Portugal.
By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3
More info about this panel Portugal.
Leber Hereditary Optic Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Leber Hereditary Optic Neuropathy that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel Germany.
Leber optic atrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND4 gene.
More info about this panel Germany.
Leber optic atrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND4 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.
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.
Single gene testing MT-ND4 Panel
Germany.
By CeGaT GmbH
This panel specifically test the MT-ND4 gene.
More info about this panel Germany.
Leber's hereditary optic neuropathy Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the MT-ND4 gene.
More info about this panel India.
Test for Leber Hereditary Optic Neuropathy Panel
United Kingdom.
By All Wales Genetics Laboratory Institute of Medical Genetics Test for Leber Hereditary Optic Neuropathy that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel United Kingdom.
LHON, MT-ND1, MT-MD4, MT-ND6 Sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center LHON, MT-ND1, MT-MD4, MT-ND6 Sequencing that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel United States.
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 Optic Atrophie Panel
Austria.
By Praxis fuer Humangenetik Wien Leber Optic Atrophie that also includes the following genes: MT-CYB MT-ND1 MT-ND4 MT-ND6
More info about this panel Austria.
Leber's hereditary optic neuropathy Panel
Singapore.
By Molecular Diagnosis Centre National University Hospital Leber's hereditary optic neuropathy that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
More info about this panel Singapore.
Leber Optic Atrophie Panel
Slovakia.
By MedGene Leber Optic Atrophie that also includes the following genes: MT-CYB MT-ND1 MT-ND4 MT-ND6
More info about this panel Slovakia.
Leber's hereditary optic neuropathy: Mutations analysis (G3460A, G11778A and T14484C) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber's hereditary optic neuropathy: Mutations analysis (G3460A, G11778A and T14484C) that also includes the following genes: MT-ND1 MT-ND4 MT-ND6
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.
Leber hereditary optic neuropathy Panel
Spain.
By Bioarray
This panel specifically test the MT-ND4 gene.
More info about this panel Spain.
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