ATP5F1A gene related symptoms and diseases
All the information presented here about the ATP5F1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP5F1A gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Common - Between 50% and 80% cases |
Encephalopathy | Common - Between 50% and 80% cases |
Generalized hypotonia | Uncommon - Between 30% and 50% cases |
Pulmonary arterial hypertension | Uncommon - Between 30% and 50% cases |
Congestive heart failure | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ATP5F1A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intrauterine growth retardation
- Hypertension
- Failure to thrive
- Growth delay
- Microcephaly
- Vertical nystagmus
- High-pitched cry
- Nystagmus
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP5F1A gene
Here you will find a list of rare diseases related to the ATP5F1A. 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 4; MC5DN4
Alternate names
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5a1 type
Most common symptoms of MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4
- Seizures
- Nystagmus
- Encephalopathy
- Cerebellar hypoplasia
- Apnea
More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4
SOURCES: OMIM
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22
- Seizures
- Generalized hypotonia
- Microcephaly
- Growth delay
- Failure to thrive
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22
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
Search interest in ATP5F1A
Potential gene panels for ATP5F1A gene
Mitochondrial Complex V Deficiency via ATP5F1A (ATP5A1) Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ATP5F1A gene.
More info about this panelMitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
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 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 panelNeurogenetic Disorders - panels Panel
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 panelMitochondrial Diseases Panel
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 panelComplex V Defect Panel
By MGZ Medical Genetics Center Complex V Defect that also includes the following genes: ATPAF2 TMEM70 ATP5F1A ATP5F1E
More info about this panelMitochondrial Encephalopathy Panel
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 panelCombined oxidative phosphorylation deficiency type 22 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP5F1A gene.
More info about this panelMitochondrial complex V deficiency, nuclear type 4 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP5F1A gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
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 panelATP5A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP5F1A gene.
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