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Details
Link-It Detail - Human Phenotype - Abnormality of muscle fibers
Debug Stats
  • ### Total Build Time: 43 ms 39.286 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 203 bytes
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  • CONCEPT_CHILDREN gt=18 ms Completed: 18 ms rowSize= 8.604 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.966 KB
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  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 24.029 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.022 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of muscle fibers HP:0004303
Definition (1)
Any abnormality of the `skeletal muscle cell` (FMA:9727). Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
Parents (2)
img Abnormality of muscle morphology HP:0011805
img Abnormality of the musculature HP:0003011
Children (26)
img Increased variability in muscle fiber diameter HP:0003557
img Type 2 muscle fiber atrophy HP:0003554
img Muscle fiber splitting HP:0003555
img Muscle fiber necrosis HP:0003713
img Abnormality of skeletal muscle fiber size HP:0012084
img Muscle fiber hypotrophy HP:0100294
img Increased muscle glycogen content HP:0009051
img Motheaten muscle fibers HP:0100298
img Abnormal muscle glycogen content HP:0012269
img Muscle fiber hypertrophy HP:0100293
img Perifascicular muscle fiber atrophy HP:0100296
img Nemaline bodies HP:0003798
img Muscle fiber inclusion bodies HP:0100299
img Increased muscle lipid content HP:0009058
img Centrally nucleated skeletal muscle fibers HP:0003687
img Ragged-red muscle fibers HP:0003200
img Abnormal muscle fibers with amorphous, granular, or hyaline deposits HP:0003790
img Deposits immunoreactive to beta-amyloid protein HP:0003791
img Increased endomysial connective tissue HP:0100297
img Autophagic vacuoles HP:0003736
img Type 1 muscle fiber predominance HP:0003803
img Rimmed vacuoles HP:0003805
img Type 1 fibers relatively smaller than type 2 fibers HP:0003755
img Type 2 muscle fiber predominance HP:0010602
img Ring fibers HP:0100305
img Muscle fiber atrophy HP:0100295
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of muscle morphology HP:0011805
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of muscle morphology HP:0011805
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the musculature HP:0003011
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the musculature HP:0003011
Genes (111)

Species:
human : 111
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SpeciesGeneGeneIdGene NameEvidence
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanCFTDX100188765Myopathy, congenital, with fiber-type disproportion, X-linked
img HP RolledUp, OMIM ID: 300580
HumanMPD3780920Myopathy, distal 3
img HP RolledUp, OMIM ID: 610099
HumanSDHAF1644096succinate dehydrogenase complex assembly factor 1
img HP RolledUp, OMIM ID: 252011
HumanMHB619511myopathy, hyaline body, autosomal recessive
img HP RolledUp, OMIM ID: 255160
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
img HP RolledUp, OMIM ID: 609456
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanLGMD1F404679limb girdle muscular dystrophy 1F (autosomal dominant)
img HP RolledUp, OMIM ID: 608423
HumanKBTBD13390594kelch repeat and BTB (POZ) domain containing 13
img HP RolledUp, OMIM ID: 609273
HumanVMA21203547VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 310440
HumanEARS2124454glutamyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 614924
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
img HP RolledUp, OMIM ID: 220110
HumanMTMR1464419myotubularin related protein 14
img HP RolledUp, OMIM ID: 160150
HumanSIL164374SIL1 nucleotide exchange factor
img HP RolledUp, OMIM ID: 248800
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 181405
HumanSEPN157190selenoprotein N, 1
img HP RolledUp, OMIM ID: 255310
img HP RolledUp, OMIM ID: 602771
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img HP RolledUp, OMIM ID: 607426
HumanPNPLA257104patatin-like phospholipase domain containing 2
img HP RolledUp, OMIM ID: 610717
HumanCOQ957017coenzyme Q9 homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 607426
HumanADCK356997aarF domain containing kinase 3
img HP RolledUp, OMIM ID: 612016
img HP RolledUp, OMIM ID: 607426
HumanC10orf256652chromosome 10 open reading frame 2
img HP RolledUp, OMIM ID: 609286
img HP RolledUp, OMIM ID: 607459
HumanSARS254938seryl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 613845
HumanTTC1954902tetratricopeptide repeat domain 19
img HP RolledUp, OMIM ID: 124000
HumanAPTX54840aprataxin
img HP RolledUp, OMIM ID: 607426
HumanDPM354344dolichyl-phosphate mannosyltransferase polypeptide 3
img HP RolledUp, OMIM ID: 612937
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004303Abnormality of muscle fibers0self