Human Phenotype Ontology 
Grandparent Node:
expandAbnormal activity of mitochondrial respiratory chain (HP:0011922)help
Parent Node:
expandDecreased activity of mitochondrial respiratory chain (HP:0008972)help
..Starting node
..expandDecreased activity of mitochondrial ATP synthase complex (HP:0011925)help
Term ID: 11925
Name: Decreased activity of mitochondrial ATP synthase complex
Synonym: Respiratory complex deficiency, ATPase deficiency
Definition: A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.
Comments:
Reference: HP:0011925
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased activity of mitochondrial complex I (HP:0011923) help
..expandDecreased activity of mitochondrial complex II (HP:0008314) help
..expandDecreased activity of mitochondrial complex III (HP:0011924) help
..expandDecreased activity of mitochondrial complex IV (HP:0008347) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011925HP:0011925Decreased activity of mitochondrial ATP synthase complex0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263


Genes (10) :ATP5F1D ATP5F1E ATPAF2 GFM1 MRPS14 MRPS16 MTRFR TIMM50 TK2 TMEM70

Diseases (10) :OMIM:618120 OMIM:614053 OMIM:604273 OMIM:609060 OMIM:618378 OMIM:610498 OMIM:613559 ORPHA:505216 OMIM:609560 OMIM:614052
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.