ATP5F1E gene related symptoms and diseases

All the information presented here about the ATP5F1E gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP5F1E gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ATP5F1E gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypertrophic cardiomyopathy
  • Lactic acidosis
  • Aciduria
  • 3-Methylglutaconic aciduria
  • Decreased activity of mitochondrial ATP synthase complex
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Rare diseases associated to ATP5F1E gene

Here you will find a list of rare diseases related to the ATP5F1E. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3


Alternate names

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5e type

Most common symptoms of MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

  • Intellectual disability
  • Peripheral neuropathy
  • Cardiomyopathy
  • Intellectual disability, mild
  • Acidosis


More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

SOURCES: OMIM

ISOLATED ATP SYNTHASE DEFICIENCY


Alternate names

ISOLATED ATP SYNTHASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex v deficiency

Description

Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


More info about ISOLATED ATP SYNTHASE DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for ATP5F1E gene

ATP5E Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP5F1E gene.

More info about this panel

ATP5E Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP5F1E gene.

More info about this panel

ATP5E Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP5F1E gene.

More info about this panel

ATP5E Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP5F1E gene.

More info about this panel

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

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

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (sequence analysis of ATP5E gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP5F1E gene.

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: ATPAF2 TMEM70 ATP5F1A ATP5F1E

More info about this panel

Mitochondrial Complex V Deficiency via ATP5F1E (ATP5E) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP5F1E gene.

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

Leigh Syndrome Panel

Germany.

By MGZ Medical Genetics Center Leigh Syndrome that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 LRPPRC SLC19A3

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

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

Complex V Defect Panel

Germany.

By MGZ Medical Genetics Center Complex V Defect that also includes the following genes: ATPAF2 TMEM70 ATP5F1A ATP5F1E

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

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP5F1E gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

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

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

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

ATP5E Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP5F1E gene.

More info about this panel


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