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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Increased muscle lipid content
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Accession:HP:0009058 term browser browse the term
Definition:An abnormal accumulation of lipids in skeletal muscle.
Comment:Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy.
Synonyms:exact_synonym: Fat accumulation in muscle fibers;   Fat accumulation in muscle fibres;   Fat deposits in muscle fibers;   Fat deposits in muscle fibres;   Lipid accumulation in skeletal muscle;   Muscle lipidosis;   Skeletal muscle lipid accumulation
 alt_id: HP:0100949
 xref: UMLS:C1837262


show annotations for term's descendants           Sort by:
Increased muscle lipid content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 ORPHA:228302 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:254864 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:324604 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO OMIM:610717 ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:324604 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171439 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO ORPHA:254864 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
G TTN titin IAGP HPO ORPHA:324604 ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
Increased intramyocellular lipid droplets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP HPO ORPHA:98907 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:614487 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:681 ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:457050 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G COQ8A coenzyme Q8A IAGP HPO OMIM:612016 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G COX6A2 cytochrome c oxidase subunit 6A2 IAGP HPO OMIM:619062 NCBI chr16:31,427,731...31,428,360
Ensembl chr16:31,427,731...31,428,360 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G ISCU iron-sulfur cluster assembly enzyme IAGP HPO OMIM:255125 NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP HPO ORPHA:681 NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP HPO OMIM:617228 NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G NDUFA4 NDUFA4 mitochondrial complex associated IAGP HPO OMIM:619065 NCBI chr 7:10,931,943...10,940,153
Ensembl chr 7:10,931,943...10,940,153 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:681 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO OMIM:252011 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO OMIM:255995 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of metabolism/homeostasis 3663
        Abnormal tissue metabolite concentration 278
          Abnormal muscle tissue metabolite concentration 55
            Increased muscle lipid content 39
              Increased intramyocellular lipid droplets 22
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the musculature 3200
          Abnormal skeletal muscle morphology 2012
            Abnormal muscle tissue metabolite concentration 55
              Increased muscle lipid content 39
                Increased intramyocellular lipid droplets 22
paths to the root