Term ID: 3555
Name: Muscle fiber splitting
Synonym: Fiber splitting; Fibre splitting; Muscle fibre splitting
Definition: Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
Comments:
Reference: HP:0003555
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 necrosis (HP:0003713) ..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:0003555 HP:0003555 Muscle fiber splitting 0 ACTA1 CL E G H 58 129 ORPHA:97240 Zebra body myopathy HP:0040281 - Very frequent 96 HP:0003555 HP:0003555 Muscle fiber splitting 0 ADSS1 CL E G H 122622 20093 OMIM:617030 Myopathy, distal, 5 . HP:0003555 HP:0003555 Muscle fiber splitting 0 ALDOA CL E G H 226 414 OMIM:611881 Glycogen storage disease XII 50 HP:0003555 HP:0003555 Muscle fiber splitting 0 ANO5 CL E G H 203859 27337 ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0040282 - Frequent 304 HP:0003555 HP:0003555 Muscle fiber splitting 0 CAPN3 CL E G H 825 1480 OMIM:618129 Muscular dystrophy, limb-girdle, autosomal dominant 4 . 323 HP:0003555 HP:0003555 Muscle fiber splitting 0 CHRNB1 CL E G H 1140 1961 OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel 53 HP:0003555 HP:0003555 Muscle fiber splitting 0 CRYAB CL E G H 1410 2389 OMIM:608810 Myopathy, myofibrillar, 2, mfm2 . 46 HP:0003555 HP:0003555 Muscle fiber splitting 0 DNAJB6 CL E G H 10049 14888 OMIM:603511 Muscular dystrophy, limb-girdle, type 1E . 103 HP:0003555 HP:0003555 Muscle fiber splitting 0 DYSF CL E G H 8291 3097 OMIM:253601 Muscular dystrophy, limb-girdle, type 2B . 600 HP:0003555 HP:0003555 Muscle fiber splitting 0 FLNC CL E G H 2318 3756 OMIM:609524 Filaminopathy, autosomal dominant . 197 HP:0003555 HP:0003555 Muscle fiber splitting 0 LDB3 CL E G H 11155 15710 OMIM:609452 Myopathy, myofibrillar, 4 . 286 HP:0003555 HP:0003555 Muscle fiber splitting 0 MYH7 CL E G H 4625 7577 ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0040283 - Occasional 1269 HP:0003555 HP:0003555 Muscle fiber splitting 0 NEB CL E G H 4703 7720 OMIM:256030 Nemaline myopathy 2, autosomal recessive 745 HP:0003555 HP:0003555 Muscle fiber splitting 0 NEFH CL E G H 4744 7737 OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC 24 HP:0003555 HP:0003555 Muscle fiber splitting 0 PLEC CL E G H 5339 9069 OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy 759 HP:0003555 HP:0003555 Muscle fiber splitting 0 SGCG CL E G H 6445 10809 OMIM:253700 Muscular dystrophy, limb-girdle, type 2C 83 HP:0003555 HP:0003555 Muscle fiber splitting 0 TNXB CL E G H 7148 11976 OMIM:606408 Ehlers-Danlos syndrome, classic-like HP:0040283 - Occasional 134 HP:0003555 HP:0003555 Muscle fiber splitting 0 TRPV4 CL E G H 59341 18083 OMIM:181405 Scapuloperoneal spinal muscular atrophy . 214 HP:0003555 HP:0003555 Muscle fiber splitting 0 TTN CL E G H 7273 12403 ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0040282 - Frequent 7128 HP:0003555 HP:0003555 Muscle fiber splitting 0 TTN CL E G H 7273 12403 OMIM:603689 Myopathy, myofibrillar, 9, with early respiratory failure 7128
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
