Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3
Genes related to Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3
- ATP5F1E
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.Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 3; Mc5dn3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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ATP5F1E
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
ATP5F1E
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
ATP5F1E
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
ATP5F1E
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By CGC Genetics (Portugal).
ATP5F1E
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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