NDUFAF3 gene related symptoms and diseases

All the information presented here about the NDUFAF3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NDUFAF3 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Left ventricular hypertrophy Uncommon - Between 30% and 50% cases
Pigmentary retinopathy Uncommon - Between 30% and 50% cases
Optic disc pallor Uncommon - Between 30% and 50% cases
Congenital diaphragmatic hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NDUFAF3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cardiomegaly
  • Coarctation of aorta
  • Ventricular hypertrophy
  • Wide anterior fontanel
  • Febrile seizures
  • Leukodystrophy
  • Aspiration
  • Cardiac arrest

And 132 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NDUFAF3 gene

Here you will find a list of rare diseases related to the NDUFAF3. 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

LEIGH SYNDROME WITH CARDIOMYOPATHY


Alternate names

LEIGH SYNDROME WITH CARDIOMYOPATHY Is also known as leigh disease with myopathy, cardiomyopathy with myopathy due to cox deficiency, cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency


More info about LEIGH SYNDROME WITH CARDIOMYOPATHY

SOURCES: ORPHANET


Potential gene panels for NDUFAF3 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

NDUFAF3 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFAF3 gene.

More info about this panel

NDUFAF3 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFAF3 gene.

More info about this panel

NDUFAF3 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFAF3 gene.

More info about this panel

NDUFAF3 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFAF3 gene.

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

Respiratory Chain Deficiency Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

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

Leigh syndrome (sequence analysis of NDUFAF3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NDUFAF3 gene.

More info about this panel

Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: NDUFAF5 NDUFA13 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2

More info about this panel

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Complex I Defect Panel

Germany.

By MGZ Medical Genetics Center Complex I Defect that also includes the following genes: NDUFAF5 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2 NDUFAF6

More info about this panel

Mitochondrial complex I deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDUFAF3 gene.

More info about this panel

Mitochondrial complex I deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDUFAF3 gene.

More info about this panel

Leigh syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDUFAF3 gene.

More info about this panel

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

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

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

More info about this panel

Mitochondrial Diseases: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mitochondrial Diseases: Sequencing Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SURF1 UQCRB LRPPRC NDUFAF5

More info about this panel

Lactic Acidosis-Pyruvate NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM

More info about this panel

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

NDUFAF3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NDUFAF3 gene.

More info about this panel


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