Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3

Clinical Features

Phenotypes and symptoms related to Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3

  • Intellectual disability
  • Peripheral neuropathy
  • Cardiomyopathy
  • Intellectual disability, mild
  • Acidosis
  • Hypertrophic cardiomyopathy
  • Lactic acidosis
  • Aciduria
  • 3-Methylglutaconic aciduria
  • Decreased activity of mitochondrial ATP synthase complex

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including neonatal onset .

Alternative names

Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5e type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ATP5E Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP5F1E
Specificity
100 %
Genes
100 %
ATP5E Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP5F1E
Specificity
100 %
Genes
100 %
ATP5E Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP5F1E
Specificity
100 %
Genes
100 %
ATP5E Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ATP5F1E
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
Respiratory Chain Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SURF1, UQCRB, LRPPRC, NDUFAF5, COX4I2, NDUFA13, ATPAF2, NDUFAF1, NUBPL, NDUFA11, NDUFAF4, PDHX, COX10 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (sequence analysis of ATP5E gene).

By CGC Genetics (Portugal).

ATP5F1E
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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