Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
expand
Abnormal muscle fiber morphology (HP:0004303)help
..Starting node
..expand
Muscle fiber necrosis (HP:0003713)help
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: 
..expandAbnormal muscle fiber protein expression (HP:0030089) help
..expandAbnormal muscle glycogen content (HP:0012269) help
..expandAbnormality of skeletal muscle fiber size (HP:0012084) help
..expandAutophagic vacuoles (HP:0003736) help
..expandCentral core regions in muscle fibers (HP:0030230) help
..expandCentrally nucleated skeletal muscle fibers (HP:0003687) help
..expandDeposits immunoreactive to beta-amyloid protein (HP:0003791) help
..expandHypertrophied muscle fibers (HP:0100293) help
..expandIncreased endomysial connective tissue (HP:0100297) help
..expandIncreased muscle lipid content (HP:0009058) help
..expandInternally nucleated skeletal muscle fibers (HP:0031237) help
..expandMotheaten muscle fibers (HP:0100298) help
..expandMuscle fiber atrophy (HP:0100295) help
..expandMuscle fiber inclusion bodies (HP:0100299) help
..expandMuscle fiber splitting (HP:0003555) help
..expandMyelin-like whorls in vacuolated fibers (HP:0031542) help
..expandNecklace skeletal muscle fibers (HP:0031238) help
..expandPerifascicular muscle fiber atrophy (HP:0100296) help
..expandRagged-red muscle fibers (HP:0003200) help
..expandReduced muscle carnitine level (HP:0030362) help
..expandRimmed vacuoles (HP:0003805) help
..expandRing fibers (HP:0100305) help
..expandType 1 muscle fiber predominance (HP:0003803) help
..expandType 2 muscle fiber predominance (HP:0010602) 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:0003713HP:0003713Muscle fiber necrosis0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040282 - Frequent96
HP:0003713HP:0003713Muscle fiber necrosis0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0003713HP:0003713Muscle fiber necrosis0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0003713HP:0003713Muscle fiber necrosis0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0003713HP:0003713Muscle fiber necrosis0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0003713HP:0003713Muscle fiber necrosis0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003713HP:0003713Muscle fiber necrosis0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0003713HP:0003713Muscle fiber necrosis0MLIP CL E G H9052321355OMIM:620138
HP:0003713HP:0003713Muscle fiber necrosis0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003713HP:0003713Muscle fiber necrosis0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003713HP:0003713Muscle fiber necrosis0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003713HP:0003713Muscle fiber necrosis0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003713HP:0003713Muscle fiber necrosis0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003713HP:0003713Muscle fiber necrosis0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003713HP:0003713Muscle fiber necrosis0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0003713HP:0003713Muscle fiber necrosis0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0003713HP:0003713Muscle fiber necrosis0TWNK CL E G H566521160OMIM:607459Sensory 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.