Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
expand
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)help
..Starting node
..expand
Depletion of mitochondrial DNA in muscle tissue (HP:0009141)help
Term ID: 9141
Name: Depletion of mitochondrial DNA in muscle tissue
Synonym: Depletion of mitochondrial dna in skeletal muscle tissue
Definition:
Comments:
Reference: HP:0009141
Genes and Diseases:
 
       Child Nodes:
........expandMultiple mitochondrial DNA deletions (HP:0003689) help

 Sister Nodes: 
..expandCytochrome C oxidase-negative muscle fibers (HP:0003688) help
..expandMitochondrial myopathy (HP:0003737) help
..expandSubsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548) 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:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5125
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0009141HP:0009141Depletion of mitochondrial DNA in muscle tissue0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0009141HP:0003689Multiple mitochondrial DNA deletions1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113


Genes (11) :LIG3 MGME1 POLG POLG2 RRM2B SLC25A10 SLC25A4 SUCLG1 TK2 TOP3A TWNK

Diseases (16) :OMIM:619780 OMIM:615084 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:613077 OMIM:618972 OMIM:615418 OMIM:617184 OMIM:609283 OMIM:245400 OMIM:609560 OMIM:618097 OMIM:609286
 

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