MT-ND2 gene related symptoms and diseases

All the information presented here about the MT-ND2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MT-ND2 gene

Symptoms // Phenotype % Cases
Myoclonus Common - Between 50% and 80% cases
Migraine Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MT-ND2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Wolff-Parkinson-White syndrome
  • Abnormality of movement
  • Optic neuropathy
  • Peripheral neuropathy
  • Visual impairment
  • Optic atrophy
  • Ataxia
  • Incoordination

And 178 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-ND2 gene

Here you will find a list of rare diseases related to the MT-ND2. 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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: OMIM ORPHANET


Potential gene panels for MT-ND2 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

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

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 MTND2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-ND2 gene.

More info about this panel

Leber optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-ND2 gene.

More info about this panel

Leber optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-ND2 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

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

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

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

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


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