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.

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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


Potential gene panels for ATP5F1A gene

Mitochondrial Complex V Deficiency via ATP5F1A (ATP5A1) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP5F1A 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 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

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

Combined oxidative phosphorylation deficiency type 22 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP5F1A gene.

More info about this panel

Mitochondrial complex V deficiency, nuclear type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP5F1A gene.

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

ATP5A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP5F1A gene.

More info about this panel


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