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.

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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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: ORPHANET OMIM MESH

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

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

SOURCES: OMIM MESH

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

SOURCES: MESH OMIM ORPHANET

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

Single gene testing MT-ND4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MT-ND4 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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 Panel

Spain.

By Bioarray

This panel specifically test the MT-ND4 gene.

More info about this panel


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