NDUFA4 gene related symptoms and diseases

All the information presented here about the NDUFA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NDUFA4 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Decreased activity of the pyruvate dehydrogenase complex Very Common - Between 80% and 100% cases
Decreased activity of mitochondrial respiratory chain Very Common - Between 80% and 100% cases
Increased CSF lactate Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NDUFA4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Progressive spastic paraplegia
  • Emotional lability
  • Leukodystrophy
  • Hypertrichosis
  • Pigmentary retinopathy
  • Increased serum lactate
  • Progressive cerebellar ataxia
  • Abnormality of movement

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NDUFA4 gene

Here you will find a list of rare diseases related to the NDUFA4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LEIGH SYNDROME WITH LEUKODYSTROPHY

Alternate names

LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy

Most common symptoms of LEIGH SYNDROME WITH LEUKODYSTROPHY

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

SOURCES: ORPHANET


Potential gene panels for NDUFA4 gene

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC

More info about this panel
United States.

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel
United States.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

NDUFA4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NDUFA4 gene.

More info about this panel
United States.

MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL that also includes the following genes: NDUFAF5 NDUFAF1 NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2 NDUFAF6 NDUFA1

More info about this panel
Spain.

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