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
Search interest in NDUFA4
Potential gene panels for NDUFA4 gene
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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 panelMitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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 panelAllNeuro panel Panel
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 panelNuclear-Mito NGS Panel Panel
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 panelNDUFA4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NDUFA4 gene.
More info about this panelMITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT PCARE SLC6A5 ARHGAP24 CEP85L ELANE GPAA1