mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Findings
No curated finding names mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011421), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 1 of 1 reported patient
- AminoaciduriaHPOHP:0003355
- 1 of 1 reported patient
- AnisocytosisHPOHP:0011273
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Decreased activity of mitochondrial ATP synthase complexHPOHP:0011925
- 1 of 1 reported patient
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
Show the remaining 6
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Renal hypoplasiaHPOHP:0000089
- 1 of 1 reported patient
- Rocker bottom footHPOHP:0001838
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Wide mouthHPOHP:0000154
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATPAF2HGNC:18802
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- Also called
- ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiencyMC5DN1mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2