Term ID: 3736
Name: Autophagic vacuoles
Synonym:
Definition: The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.
Comments:
Reference: HP:0003736
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal muscle fiber protein expression (HP:0030089) ..Abnormal muscle glycogen content (HP:0012269) ..Abnormality of skeletal muscle fiber size (HP:0012084) ..Central core regions in muscle fibers (HP:0030230) ..Centrally nucleated skeletal muscle fibers (HP:0003687) ..Deposits immunoreactive to beta-amyloid protein (HP:0003791) ..Hypertrophied muscle fibers (HP:0100293) ..Increased endomysial connective tissue (HP:0100297) ..Increased muscle lipid content (HP:0009058) ..Internally nucleated skeletal muscle fibers (HP:0031237) ..Motheaten muscle fibers (HP:0100298) ..Muscle fiber atrophy (HP:0100295) ..Muscle fiber inclusion bodies (HP:0100299) ..Muscle fiber necrosis (HP:0003713) ..Muscle fiber splitting (HP:0003555) ..Myelin-like whorls in vacuolated fibers (HP:0031542) ..Necklace skeletal muscle fibers (HP:0031238) ..Perifascicular muscle fiber atrophy (HP:0100296) ..Ragged-red muscle fibers (HP:0003200) ..Reduced muscle carnitine level (HP:0030362) ..Rimmed vacuoles (HP:0003805) ..Ring fibers (HP:0100305) ..Type 1 muscle fiber predominance (HP:0003803) ..Type 2 muscle fiber predominance (HP:0010602) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0003736 HP:0003736 Autophagic vacuoles 0 ACTA1 CL E G H 58 129 ORPHA:97240 Zebra body myopathy HP:0040281 - Very frequent 96 HP:0003736 HP:0003736 Autophagic vacuoles 0 ACTN2 CL E G H 88 164 OMIM:618655 MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 307 HP:0003736 HP:0003736 Autophagic vacuoles 0 CRYAB CL E G H 1410 2389 ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0040282 - Frequent 46 HP:0003736 HP:0003736 Autophagic vacuoles 0 CRYAB CL E G H 1410 2389 OMIM:608810 Myopathy, myofibrillar, 2, mfm2 . 46 HP:0003736 HP:0003736 Autophagic vacuoles 0 LDB3 CL E G H 11155 15710 OMIM:609452 Myopathy, myofibrillar, 4 . 286 HP:0003736 HP:0003736 Autophagic vacuoles 0 LRP12 CL E G H 29967 31708 OMIM:164310 Oculopharyngodistal myopathy 1 . HP:0003736 HP:0003736 Autophagic vacuoles 0 MYOT CL E G H 9499 12399 ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0040282 - Frequent 75 HP:0003736 HP:0003736 Autophagic vacuoles 0 RILPL1 CL E G H 353116 26814 OMIM:619790 OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 HP:0003736 HP:0003736 Autophagic vacuoles 0 TNPO3 CL E G H 23534 17103 OMIM:608423 Muscular dystrophy, limb-girdle, autosomal dominant 2 . 71
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
