Term ID:
3713
Name:
Muscle fiber necrosis
Synonym:
Muscle fibre necrosis
Definition:
Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
Comments:
Reference:
HP:0003713
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) ..Autophagic vacuoles (HP:0003736) ..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 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 HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0003713 HP:0003713 Muscle fiber necrosis 0 ACTA1 CL E G H 58 129 ORPHA:97240 Zebra body myopathy HP:0040282 - Frequent 96 HP:0003713 HP:0003713 Muscle fiber necrosis 0 BVES CL E G H 11149 1152 OMIM:616812 Muscular dystrophy, limb-girdle, autosomal recessive 25 2 HP:0003713 HP:0003713 Muscle fiber necrosis 0 COL6A1 CL E G H 1291 2211 OMIM:254090 Ullrich congenital muscular dystrophy 1 . 442 HP:0003713 HP:0003713 Muscle fiber necrosis 0 COL6A2 CL E G H 1292 2212 OMIM:254090 Ullrich congenital muscular dystrophy 1 . 478 HP:0003713 HP:0003713 Muscle fiber necrosis 0 COL6A3 CL E G H 1293 2213 OMIM:254090 Ullrich congenital muscular dystrophy 1 . 702 HP:0003713 HP:0003713 Muscle fiber necrosis 0 DHX16 CL E G H 8449 2739 OMIM:618733 NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS HP:0003713 HP:0003713 Muscle fiber necrosis 0 MEGF10 CL E G H 84466 29634 OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 158 HP:0003713 HP:0003713 Muscle fiber necrosis 0 MLIP CL E G H 90523 21355 OMIM:620138 HP:0003713 HP:0003713 Muscle fiber necrosis 0 PHKA1 CL E G H 5255 8925 OMIM:300559 Muscle glycogenosis, X-linked 54 HP:0003713 HP:0003713 Muscle fiber necrosis 0 POLG CL E G H 5428 9179 OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 . 464 HP:0003713 HP:0003713 Muscle fiber necrosis 0 POLG CL E G H 5428 9179 OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive . 464 HP:0003713 HP:0003713 Muscle fiber necrosis 0 POLG CL E G H 5428 9179 OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis . 464 HP:0003713 HP:0003713 Muscle fiber necrosis 0 POPDC3 CL E G H 64208 17649 OMIM:618848 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 HP:0003713 HP:0003713 Muscle fiber necrosis 0 SGCA CL E G H 6442 10805 OMIM:608099 Muscular dystrophy, limb-girdle, type 2D 132 HP:0003713 HP:0003713 Muscle fiber necrosis 0 SGCG CL E G H 6445 10809 OMIM:253700 Muscular dystrophy, limb-girdle, type 2C . 83 HP:0003713 HP:0003713 Muscle fiber necrosis 0 SMN1 CL E G H 6606 11117 OMIM:271150 Spinal muscular atrophy, type IV 22 HP:0003713 HP:0003713 Muscle fiber necrosis 0 TWNK CL E G H 56652 1160 OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis . 113
Genes (15) :ACTA1 BVES COL6A1 COL6A2 COL6A3 DHX16 MEGF10 MLIP PHKA1 POLG POPDC3 SGCA SGCG SMN1 TWNK Diseases (14) :ORPHA:97240 OMIM:616812 OMIM:254090 OMIM:618733 OMIM:614399 OMIM:620138 OMIM:300559 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:618848 OMIM:608099 OMIM:253700 OMIM:271150
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.