MT-ND3 gene related symptoms and diseases
All the information presented here about the MT-ND3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-ND3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Optic atrophy | Common - Between 50% and 80% cases |
| Spasticity | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Dystonia | Common - Between 50% and 80% cases |
| Optic neuropathy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MT-ND3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperreflexia
- Peripheral neuropathy
- Ragged-red muscle fibers
Not very common - Between 30% and 50% cases
- Blindness
- Optic disc pallor
- Increased serum lactate
- Migraine
- Encephalopathy
And 194 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-ND3 gene
Here you will find a list of rare diseases related to the MT-ND3. 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
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 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
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-ND3
Potential gene panels for MT-ND3 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.
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 United States.
Leigh syndrome (sequence analysis of MTND3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MT-ND3 gene.
More info about this panel Portugal.
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.
Leigh syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-ND3 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.
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 (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.
Mitochondrial Disease: ATP6, COX3 and ND3 gene sequencing Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics Mitochondrial Disease: ATP6, COX3 and ND3 gene sequencing that also includes the following genes: MT-CO3 MT-ND3
More info about this panel India.
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