Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the musculature (HP:0003011)help
Parent Node:
expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800)help
..Starting node
..expandSubsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)help
Term ID: 3548
Name: Subsarcolemmal accumulations of abnormally shaped mitochondria
Synonym:
Definition: An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.
Comments:
Reference: HP:0003548
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCytochrome C oxidase-negative muscle fibers (HP:0003688) help
..expandDepletion of mitochondrial DNA in muscle tissue (HP:0009141) help
..expandMitochondrial myopathy (HP:0003737) 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:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0003548HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138


Genes (6) :ISCU PNPT1 POLG SLC25A4 TWNK TYMP

Diseases (8) :OMIM:255125 ORPHA:319514 OMIM:603041 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:609283 OMIM:609286
 

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